TaoMedAI/RareMedData huggingface dataset:
ORPHA:675396: Angiolymphoid hyperplasia with eosinophilia
ORPHA:675396: EH
ORPHA:675404: May-Thurner syndrome
ORPHA:675404: Cockett syndrome
ORPHA:675404: MTS
ORPHA:675597: Acquired elastotic haemangioma
ORPHA:675628: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
ORPHA:675628: INFLTR8
ORPHA:675628: Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
ORPHA:675767: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
ORPHA:675767: SCN-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
ORPHA:675767: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to signal recognition protein 54 deficiency
ORPHA:675775: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
ORPHA:675782: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
ORPHA:675782: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5
ORPHA:675814: Adenomatoid tumour of the pleura
ORPHA:675822: Well-differentiated papillary mesothelial tumour of the pleura
ORPHA:675833: Localized pleural mesothelioma
ORPHA:675837: Diffused pleural mesothelioma
ORPHA:675841: Pleural mesothelioma in situ
ORPHA:675976: Adenomatoid tumour of the peritoneum
ORPHA:676: Hereditary chronic pancreatitis
ORPHA:676030: Primary benign peritoneal tumor
ORPHA:676033: Well-differentiated papillary mesothelial tumour of the peritoneum
ORPHA:676036: Peritoneal mesothelioma in situ
ORPHA:676039: Combined immunodeficiency due to FOXN1 haploinsufficiency
ORPHA:676125: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
ORPHA:676125: DEX
ORPHA:676125: Deficiency in ELF4, X-linked
ORPHA:676125: X-AIDE
ORPHA:676125: X-linked autoinflammatory and immunodeficiency disease associated with ELF4
ORPHA:676125: X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency
ORPHA:677: Pancreatoblastoma
ORPHA:678: Papillon-Lefèvre syndrome
ORPHA:678: Keratosis palmoplantar-periodontopathy syndrome
ORPHA:678: PLS
ORPHA:679: Malignant atrophic papulosis
ORPHA:679: Cutaneo-muco-intestinal syndrome
ORPHA:679: MAP
ORPHA:679: Papulosis atrophicans maligna
ORPHA:68: Amoebiasis due to free-living amoebae
ORPHA:681: Hypokalemic periodic paralysis
ORPHA:681: Westphall disease
ORPHA:682: Hyperkalemic periodic paralysis
ORPHA:682: Adynamia episodica hereditaria
ORPHA:682: Familial hyperPP
ORPHA:682: Familial hyperkalemic periodic paralysis
ORPHA:682: Gamstorp disease
ORPHA:682: Gamstorp episodic adynamy
ORPHA:682: HYPP
ORPHA:682: HyperKPP
ORPHA:682: HyperPP
ORPHA:682: Hyperkalemic PP
ORPHA:682: Primary hyperPP
ORPHA:682: Primary hyperkalemic periodic paralysis
ORPHA:683: Progressive supranuclear palsy
ORPHA:683: PSP syndrome
ORPHA:68329: Rare maxillo-facial surgical disease
ORPHA:68329: Rare maxillofacial anomaly
ORPHA:68334: Rare hemorrhagic disorder due to a constitutional coagulation factors defect
ORPHA:68334: Rare bleeding disorder due to a constitutional coagulation factors defect
ORPHA:68334: Rare coagulopathy due to a constitutional coagulation factors defect
ORPHA:68335: Rare chromosomal anomaly
ORPHA:68336: Rare genetic tumor
ORPHA:68341: Multiple congenital anomalies/dysmorphic syndrome
ORPHA:68346: Rare genetic skin disease
ORPHA:68346: Rare genodermatosis
ORPHA:68347: Tumor of hematopoietic and lymphoid tissues
ORPHA:68354: Rare sleep disorder
ORPHA:68356: Leukodystrophy
ORPHA:68361: Rare deafness
ORPHA:68361: Rare hearing loss
ORPHA:68362: Rare vascular disease
ORPHA:68363: Rare dystonia
ORPHA:68363: Rare dystonic disorder
ORPHA:68364: Hemoglobinopathy
ORPHA:68366: Lysosomal disease
ORPHA:68367: Rare inborn errors of metabolism
ORPHA:68367: Rare metabolic disease
ORPHA:68373: Peroxisomal disease
ORPHA:68378: Congenital limb malformation
ORPHA:68380: Mitochondrial disease
ORPHA:68381: Neuromuscular disease
ORPHA:68383: Rare constitutional aplastic anemia
ORPHA:68385: Neurometabolic disease
ORPHA:684: Paramyotonia congenita of Von Eulenburg
ORPHA:684: Paramyotonia congenita
ORPHA:68402: Rare parkinsonian disorder
ORPHA:68402: Rare hypokinetic movement disorder
ORPHA:68411: Rare bone tumor
ORPHA:68415: Rare parathyroid disease and phosphocalcic metabolism anomaly
ORPHA:68416: Rare infectious disease
ORPHA:68419: Rare vascular anomaly
ORPHA:684216: Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
ORPHA:684216: BEFAHRS
ORPHA:684216: Beck-Fahrner syndrome
ORPHA:684216: Intellectual disability-facial dysmorphism-joint hypermobility-deafness syndrome
ORPHA:684216: TET3 deficiency
ORPHA:684216: TET3-related Beck-Fahrner syndrome
ORPHA:684226: Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
ORPHA:684226: KMT5B haploinsufficiency neurodevelopmental disorder
ORPHA:684232: Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
ORPHA:684232: Den Hoed-De Boer-Voisin syndrome
ORPHA:684240: Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
ORPHA:684240: KABAMAS
ORPHA:684240: Kaya-Barakat-Masson syndrome
ORPHA:684247: Isolated growth hormone deficiency type IV
ORPHA:684290: Hypertrophic olivary degeneration
ORPHA:684290: HOD
ORPHA:684305: NOCGUS syndrome
ORPHA:684305: Neuro-oculo-cardio-genito-urinary syndrome
ORPHA:684305: Neurooculocardiogenitourinary syndrome
ORPHA:684742: 2q13 microdeletion syndrome
ORPHA:684742: del2q13 syndrome
ORPHA:684752: Isolated anal canal duplication
ORPHA:684752: ACD
ORPHA:684757: Malformation of the anal canal and the rectum
ORPHA:685: Hereditary spastic paraplegia
ORPHA:685: Familial spastic paraplegia
ORPHA:685: HSP
ORPHA:685: Hereditary spastic paraparesis
ORPHA:685: SPG
ORPHA:685: Strümpell-Lorrain disease
ORPHA:685004: Primary pericardial mesothelioma
ORPHA:685004: PPM
ORPHA:685004: Primary malignant pericardial mesothelioma
ORPHA:685010: Mesothelioma of the tunica vaginalis
ORPHA:685010: Malignant mesothelioma of the tunica vaginalis
ORPHA:685017: Combined immunodeficiency due to TBX1 deficiency
ORPHA:685067: Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
ORPHA:685067: ARED14
ORPHA:685067: Autosomal recesive ectodermal dysplasia 14
ORPHA:685082: Pediatric acute respiratory distress syndrome
ORPHA:685082: PARDS
ORPHA:685082: Pediatric ARDS
ORPHA:686447: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases
ORPHA:686447: IFNG-responsive severe MSMD
ORPHA:686447: Interferon gamma-responsive severe mendelian susceptibility to mycobacterial diseases
ORPHA:686462: Non-fibrotic hypersensitivity pneumonitis
ORPHA:686465: Fibrotic hypersensitivity pneumonitis
ORPHA:686468: Post 5-alpha-reductase inhibitors treatment syndrome
ORPHA:686475: Post-selective serotonin reuptake inhibitor sexual dysfunction
ORPHA:686475: PSSD
ORPHA:686475: Post-SSRI sexual dysfunction
ORPHA:686482: BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
ORPHA:686482: BPTF-related NEDDFL
ORPHA:686482: BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
ORPHA:686488: RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome
ORPHA:686488: RNU4-2-related neurodevelopmental syndrome
ORPHA:686495: MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
ORPHA:686556: Isolated congenital cholesteatoma of the middle ear
ORPHA:686556: CCME
ORPHA:686556: CMEC
ORPHA:686556: Congenital middle ear cholesteatoma
ORPHA:686999: Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
ORPHA:686999: PLAAT3-related lipodystrophy syndrome
ORPHA:687424: 10p15 microdeletion syndrome
ORPHA:687424: Del(10)(p15)
ORPHA:687424: Deletion 10p15
ORPHA:687695: 10p13-p14 deletion syndrome
ORPHA:687695: Del(10)(p13p14)
ORPHA:687695: Deletion 10p13-p14
ORPHA:687730: Unifocal Langerhans cell histiocytosis
ORPHA:687730: Unifocal Langerhans cell granulomatosis
ORPHA:687730: Unifocal histiocytosis X
ORPHA:687733: Pulmonary Langerhans cell histiocytosis
ORPHA:687733: PLCH
ORPHA:687733: Single-system Langerhans cell granulomatosis
ORPHA:687733: Single-system pulmonary Langerhans cell histiocytosis
ORPHA:687733: Single-system pulmonary histiocytosis X
ORPHA:687738: Single-system multifocal Langerhans cell histiocytosis
ORPHA:687738: Single-system multifocal Langerhans cell granulomatosis
ORPHA:687738: Single-system multifocal histiocytosis X
ORPHA:687741: Multisystem Langerhans cell histiocytosis
ORPHA:687741: Multisystem Langerhans cell granulomatosis
ORPHA:687741: Multisystem histiocytosis X
ORPHA:688523: Splenic venous malformation
ORPHA:688523: Splenic cavernous malformation
ORPHA:688523: Splenic slow flow venous malformation
ORPHA:688523: Venous malformation of the spleen
ORPHA:688543: Reticular dysgenesis-like severe combined immunodeficiency
ORPHA:688543: Activated RAC2-associated severe combined immunodeficiency
ORPHA:688543: Activated Rac2 defect
ORPHA:688543: Non-syndromic reticular dysgenesis
ORPHA:688543: Reticular dysgenesis-like SCID
ORPHA:688563: Combined immunodeficiency with normal Ig and poor specific antibody response
ORPHA:688563: CID with normal Ig and poor specific antibody response
ORPHA:688563: Combined immunodeficiency with normal immunoglobulins and poor specific antibody response
ORPHA:688571: Combined immunodeficiency with low immunoglobulins
ORPHA:688571: CID with low Ig
ORPHA:688571: Combined immunodeficiency low Ig
ORPHA:688581: Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
ORPHA:688581: MFHIEN
ORPHA:688581: Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome
ORPHA:688594: Combined immunodeficiency due to RELB deficiency
ORPHA:688594: CID due to RELB deficiency
ORPHA:688594: Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency
ORPHA:688642: Turnpenny-Fry syndrome
ORPHA:688642: PCGF2-related disorder
ORPHA:688642: TPFS
ORPHA:688649: Isolated adrenal medullary hyperplasia
ORPHA:688649: Isolated AMH
ORPHA:688995: Scarlet fever
ORPHA:688995: Scarlatina
ORPHA:689001: Isolated spontaneous vertebral artery dissection
ORPHA:689001: CeAD
ORPHA:689001: SCAD
ORPHA:689021: Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
ORPHA:689021: Anoctamin-5-related myopathy pseudometabolic phenotype
ORPHA:689231: IFH1-related hereditary spastic paraplegia
ORPHA:689234: RNASEH2B-related hereditary spastic paraplegia
ORPHA:689397: Poirier-Bienvenue neurodevelopmental syndrome
ORPHA:689401: Acquired hypothalamic obesity
ORPHA:689408: Shashi-Pena syndrome
ORPHA:689422: Okur-Chung neurodevelopmental syndrome
ORPHA:689430: Adenoid ameloblastoma
ORPHA:689430: AA
ORPHA:689822: Structural heart defects-renal anomalies syndrome
ORPHA:689822: SHDRA syndrome
ORPHA:689822: Severe congenital heart defects-renal anomalies syndome
ORPHA:689829: Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
ORPHA:69: Amyloidosis
ORPHA:69028: Dysostosis with brachydactyly
ORPHA:69061: Idiopathic steroid-sensitive nephrotic syndrome
ORPHA:69063: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
ORPHA:69063: Alloimmune neonatal renal disease
ORPHA:69063: FMAIG
ORPHA:69063: Fetomaternal alloimmunization with antenatal glomerulopathies
ORPHA:69063: Neonatal glomerulopathy due to neprilysin alloimmunization
ORPHA:69063: Neonatal membranous glomerulopathy with maternal NEP deficiency
ORPHA:69063: Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency
ORPHA:69076: Familial renal glucosuria
ORPHA:69076: Familial renal glycosuria
ORPHA:69076: SGLT2 deficiency
ORPHA:69077: Rhabdoid tumor
ORPHA:69077: Malignant rhabdoid tumor
ORPHA:69078: Liposarcoma
ORPHA:69082: Odonto-tricho-ungual-digito-palmar syndrome
ORPHA:69082: OTUDP syndrome
ORPHA:69082: Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
ORPHA:69083: Ectodermal dysplasia with natal teeth, Turnpenny type
ORPHA:69084: Pure hair and nail ectodermal dysplasia
ORPHA:69084: HNED
ORPHA:69084: Hair-nail ectodermal dysplasia
ORPHA:69084: PHNED
ORPHA:69085: Limb-mammary syndrome
ORPHA:69085: LMS
ORPHA:69087: Naegeli-Franceschetti-Jadassohn syndrome
ORPHA:69087: NFJ syndrome
ORPHA:69087: Naegeli syndrome
ORPHA:69088: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
ORPHA:69088: OL-EDA-ID
ORPHA:69125: Anonychia with flexural pigmentation
ORPHA:69126: PAPA syndrome
ORPHA:69126: FRA
ORPHA:69126: Familial recurrent arthritis
ORPHA:69126: Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
ORPHA:69663: Low phospholipid-associated cholelithiasis
ORPHA:69663: ABCB4-related cholelithiasis
ORPHA:69663: LPAC
ORPHA:69665: Intrahepatic cholestasis of pregnancy
ORPHA:69665: Gravidic intrahepatic cholestasis
ORPHA:69665: Pregnancy-related cholestasis
ORPHA:69665: Recurrent intrahepatic cholestasis of pregnancy
ORPHA:69723: Tyrosinemia type 3
ORPHA:69723: Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
ORPHA:69723: Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
ORPHA:69723: Tyrosinemia due to HPD deficiency
ORPHA:69723: Tyrosinemia type III
ORPHA:69735: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ORPHA:69735: Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
ORPHA:69736: Bilateral acute depigmentation of the iris
ORPHA:69736: BADI
ORPHA:69737: Bosley-Salih-Alorainy syndrome
ORPHA:69739: Athabaskan brainstem dysgenesis syndrome
ORPHA:69739: ABSD
ORPHA:69739: Athabascan brainstem dysgenesis syndrome
ORPHA:69739: Navajo brainstem syndrome
ORPHA:69744: Circumscribed palmoplantar hypokeratosis
ORPHA:69744: Circumscribed acral hypokeratosis
ORPHA:69745: Warty dyskeratoma
ORPHA:69745: Follicular dyskeratoma
ORPHA:699: Pearson syndrome
ORPHA:699: PMPS
ORPHA:699: Pearson marrow-pancreas syndrome
ORPHA:7: 3C syndrome
ORPHA:7: Craniocerebellocardiac dysplasia
ORPHA:7: Ritscher-Schinzel syndrome
ORPHA:70: Proximal spinal muscular atrophy
ORPHA:70: SMA
ORPHA:700: Alopecia totalis
ORPHA:701: Alopecia universalis
ORPHA:702: Pelizaeus-Merzbacher disease
ORPHA:702: Diffuse familial brain sclerosis
ORPHA:702: PMD
ORPHA:702: Pelizaeus-Merzbacher brain sclerosis
ORPHA:702: Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
ORPHA:703: Bullous pemphigoid
ORPHA:704: Pemphigus vulgaris
ORPHA:70472: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
ORPHA:70472: COX deficiency, French-Canadian type
ORPHA:70472: Cytochrome C oxidase deficiency, French-Canadian type
ORPHA:70472: Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
ORPHA:70472: Leigh syndrome, French-Canadian type
ORPHA:70472: Leigh syndrome, Saguenay-Lac-Saint-Jean type
ORPHA:70472: SLSJ-COX deficiency
ORPHA:70475: Radiation proctitis
ORPHA:70476: Vernal keratoconjunctivitis
ORPHA:70476: Spring catarrh
ORPHA:70482: Carcinoma of esophagus
ORPHA:70482: Esophageal carcinoma
ORPHA:705: Pendred syndrome
ORPHA:705: Goiter-deafness syndrome
ORPHA:705: Goiter-hearing loss syndrome
ORPHA:70567: Cholangiocarcinoma
ORPHA:70567: Bile duct cancer
ORPHA:70567: CCA
ORPHA:70568: Post-transplant lymphoproliferative disease
ORPHA:70568: PTLD
ORPHA:70573: Small cell lung cancer
ORPHA:70573: SCLC
ORPHA:70578: Adult acute respiratory distress syndrome
ORPHA:70578: Adult ARDS
ORPHA:70588: Meconium aspiration syndrome
ORPHA:70589: Bronchopulmonary dysplasia
ORPHA:70589: BPD
ORPHA:70590: Infantile apnea
ORPHA:70590: Apnea in full-term infants
ORPHA:70590: Apnea of infancy
ORPHA:70591: Chronic thromboembolic pulmonary hypertension
ORPHA:70591: CTEPH
ORPHA:70592: Transient predisposition to invasive pyogenic bacterial infection
ORPHA:70593: Immunodeficiency due to selective anti-polysaccharide antibody deficiency
ORPHA:70593: SPAD
ORPHA:70593: Selective anti-polysaccharide antibody deficiency
ORPHA:70593: Specific anti-polysaccharide antibody deficiency
ORPHA:70593: Specific polysaccharide antibody deficiency
ORPHA:70594: Dopa-responsive dystonia due to sepiapterin reductase deficiency
ORPHA:70594: Autosomal recessive sepiapterin reductase-deficient DRD
ORPHA:70594: DRD due to SRD
ORPHA:70594: SPR deficiency
ORPHA:70594: Sepiapterin reductase deficiency
ORPHA:70595: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
ORPHA:70595: SANDO
ORPHA:70596: Congenital Epstein-Barr virus infection
ORPHA:70596: Antenatal EBV infection
ORPHA:70596: Antenatal Epstein-Barr virus infection
ORPHA:70596: Congenital EBV infection
ORPHA:70596: Mother-to-child transmission of Epstein-Barr virus infection
ORPHA:707: Plague
ORPHA:707: Y. pestis infection
ORPHA:707: Yersinia pestis infection
ORPHA:708: Peters anomaly
ORPHA:708: Peters congenital glaucoma
ORPHA:709: Peters plus syndrome
ORPHA:709: Krause-Kivlin syndrome
ORPHA:709: Krause-van Schooneveld-Kivlin syndrome
ORPHA:709: Peters anomaly with short limb dwarfism
ORPHA:71: Chylomicron retention disease
ORPHA:71: Anderson disease
ORPHA:71: CMRD
ORPHA:71: CRD
ORPHA:710: Pfeiffer syndrome
ORPHA:710: ACS5
ORPHA:710: Acrocephalosyndactyly type 5
ORPHA:71198: Rare pulmonary hypertension
ORPHA:712: Hemolytic anemia due to glucophosphate isomerase deficiency
ORPHA:71202: Rare hemorrhagic disorder due to a constitutional platelet anomaly
ORPHA:71202: Rare bleeding disorder due to a constitutional platelet anomaly
ORPHA:71202: Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia
ORPHA:71202: Rare coagulopathy due to a constitutional platelet anomaly
ORPHA:71202: Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia
ORPHA:71202: Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia
ORPHA:71203: Autoimmune thrombocytopenia
ORPHA:71209: Rare soft tissue tumor
ORPHA:71209: Rare mesenchymal tumor
ORPHA:71211: Neuromyelitis optica spectrum disorder
ORPHA:71211: Devic disease
ORPHA:71211: NMOSD
ORPHA:71212: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
ORPHA:71212: Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
ORPHA:71212: Hyperinsulinism due to SCHAD deficiency
ORPHA:71212: Hyperinsulinism due to glutamodehydrogenase deficiency
ORPHA:71212: SCHAD deficiency
ORPHA:71213: Retinal capillary malformation
ORPHA:71213: Retinal cavernous hemangioma
ORPHA:71267: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
ORPHA:71267: Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome
ORPHA:71271: Split hand-split foot-deafness syndrome
ORPHA:71271: Split hand-split foot-hearing loss syndrome
ORPHA:71272: Sandifer syndrome
ORPHA:71273: Renal nutcracker syndrome
ORPHA:71273: Left renal vein entrapment syndrome
ORPHA:71273: RNS
ORPHA:71274: Disseminated peritoneal leiomyomatosis
ORPHA:71274: DPL
ORPHA:71274: Diffuse peritoneal leiomyomatosis
ORPHA:71274: LPD
ORPHA:71274: Leiomyomatosis peritonealis disseminate
ORPHA:71275: Rh deficiency syndrome
ORPHA:71275: Rh-null syndrome
ORPHA:71276: Silent sinus syndrome
ORPHA:71276: CMA grade 3
ORPHA:71276: Chronic maxillary atelectasis grade III
ORPHA:71276: Imploding antrum syndrome
ORPHA:71277: Classic glucose transporter type 1 deficiency syndrome
ORPHA:71277: Classic GLUT1 deficiency syndrome
ORPHA:71277: Classic GLUT1-DS
ORPHA:71277: De Vivo disease
ORPHA:71277: Encephalopathy due to GLUT1 deficiency
ORPHA:71278: Congenital brain dysgenesis due to glutamine synthetase deficiency
ORPHA:71278: Inherited GS deficiency
ORPHA:71278: Inherited glutamine synthetase deficiency
ORPHA:71279: CANOMAD syndrome
ORPHA:71279: CANDA syndrome
ORPHA:71279: Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome
ORPHA:71279: Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies
ORPHA:71281: Rare central nervous system and retinal vascular disease
ORPHA:71289: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ORPHA:71289: ATRUS syndrome
ORPHA:71290: Familial platelet disorder with associated myeloid malignancy
ORPHA:71290: FPD/AML
ORPHA:71290: FPDMM
ORPHA:71290: FPS/AML
ORPHA:71290: Familial platelet disorder with predisposition to acute myelogenous leukemia
ORPHA:71290: Familial platelet disorder with predisposition to myeloid malignancy
ORPHA:71290: Familial platelet disorder with propensity to acute myeloid leukemia
ORPHA:71290: Familial thrombocytopenia with propensity to acute myelogenous leukemia
ORPHA:71290: RUNX1 familial platelet disorder
ORPHA:71290: RUNX1 familial platelet disorder with associated myeloid malignancies
ORPHA:71290: RUNX1-FPD
ORPHA:71290: RUNX1-FPDMM
ORPHA:713: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
ORPHA:713: GSD due to phosphoglycerate kinase 1 deficiency
ORPHA:713: Glycogenosis due to phosphoglycerate kinase 1 deficiency
ORPHA:714: Hemolytic anemia due to diphosphoglycerate mutase deficiency
ORPHA:71493: Familial thrombocytosis
ORPHA:71493: Familial thrombocythemia
ORPHA:71493: Hereditary thrombocythemia
ORPHA:715: Glycogen storage disease due to muscle phosphorylase kinase deficiency
ORPHA:715: GSD due to muscle phosphorylase kinase deficiency
ORPHA:715: GSD type 9D
ORPHA:715: GSD type 9E
ORPHA:715: GSD type IXd
ORPHA:715: GSD type IXe
ORPHA:715: Glycogen storage disease type 9D
ORPHA:715: Glycogen storage disease type 9E
ORPHA:715: Glycogen storage disease type IXd
ORPHA:715: Glycogen storage disease type IXe
ORPHA:715: Glycogenosis due to muscle phosphorylase kinase deficiency
ORPHA:715: Glycogenosis type 9D
ORPHA:715: Glycogenosis type 9E
ORPHA:715: Glycogenosis type IXd
ORPHA:715: Glycogenosis type IXe
ORPHA:71505: Cancer-associated retinopathy
ORPHA:71505: CAR syndrome
ORPHA:71505: Paraneoplastic retinopathy
ORPHA:71517: Rapid-onset dystonia-parkinsonism
ORPHA:71517: DYT12
ORPHA:71517: Dystonia 12
ORPHA:71518: Benign paroxysmal torticollis of infancy
ORPHA:71519: Psychogenic movement disorders
ORPHA:71519: Psychogenic dystonia
ORPHA:71526: Obesity due to pro-opiomelanocortin deficiency
ORPHA:71526: POMC deficiency
ORPHA:71528: Obesity due to prohormone convertase I deficiency
ORPHA:71528: PCI deficiency
ORPHA:71529: Obesity due to melanocortin 4 receptor deficiency
ORPHA:71529: MC4R deficiency
ORPHA:716: Phenylketonuria
ORPHA:716: PAH deficiency
ORPHA:716: PKU
ORPHA:716: Phenylalanine hydroxylase deficiency
ORPHA:718: Isolated Pierre Robin sequence
ORPHA:718: PRS
ORPHA:71859: Rare genetic neurological disorder
ORPHA:71862: Inherited retinal disorder
ORPHA:71862: Retinal dystrophy
ORPHA:71864: Muscular channelopathy
ORPHA:72: Angelman syndrome
ORPHA:720: Pili bifurcati
ORPHA:721: Gray platelet syndrome
ORPHA:721: Alpha storage pool deficiency
ORPHA:721: GPS
ORPHA:721: Platelet alpha-granule deficiency
ORPHA:722: Hypoplasminogenemia
ORPHA:722: Plasminogen deficiency type 1
ORPHA:723: Pneumocystosis
ORPHA:724: Idiopathic acute eosinophilic pneumonia
ORPHA:724: IAEP
ORPHA:725: Developmental and epileptic encephalopathy with spike-wave activation in sleep
ORPHA:725: CSWS
ORPHA:725: CSWSS syndrome
ORPHA:725: Continuous spikes and waves during sleep
ORPHA:725: Continuous spikes and waves during slow-wave sleep
ORPHA:725: DEE-SWAS
ORPHA:725: Epileptic encephalopathy with continuous spike-and-wave during slow sleep
ORPHA:725: Epileptic encephalopathy with spike-and wave activation in sleep
ORPHA:726: Alpers-Huttenlocher syndrome
ORPHA:726: Alpers progressive sclerosing poliodystrophy
ORPHA:726: Alpers syndrome
ORPHA:726: Progressive neuronal degeneration of childhood with liver disease
ORPHA:727: Microscopic polyangiitis
ORPHA:727: MPA
ORPHA:727: Micropolyangiitis
ORPHA:727: Microscopic polyarteritis
ORPHA:728: Relapsing polychondritis
ORPHA:728: Polychondropathia
ORPHA:729: Polycythemia vera
ORPHA:729: Acquired primary erythrocytosis
ORPHA:729: Osler-Vaquez disease
ORPHA:729: PV
ORPHA:729: Polycythemia rubra vera
ORPHA:729: Vaquez disease
ORPHA:73: Gorham-Stout disease
ORPHA:73: Gorham disease
ORPHA:73: Gorham syndrome
ORPHA:73: Idiopathic massive osteolysis
ORPHA:73: Progressive massive osteolysis