Orphanet classification: Rare disorder potentially indicated for transplant or complication after transplantation (ORPHA:565779)
Disorder type: Category
Subcategories and diseases:
Name: Complications after hematopoietic stem cell transplantation
OrphaCode: 90053
DisorderType: Particular clinical situation in a disease or syndrome
Name: Complication after organ transplantation
OrphaCode: 306644
DisorderType: Particular clinical situation in a disease or syndrome
Name: Hepatitis B reinfection following liver transplantation
OrphaCode: 90073
DisorderType: Particular clinical situation in a disease or syndrome
Name: Posttransplant acute limbic encephalitis
OrphaCode: 163921
DisorderType: Particular clinical situation in a disease or syndrome
Name: Invasive scopulariopsis infection
OrphaCode: 633124
DisorderType: Disease
Name: Rare disorder potentially indicated for transplant
OrphaCode: 506207
DisorderType: Category
Children: Name: Rare disorder potentially indicated for heart transplant
OrphaCode: 506225
DisorderType: Category
Children: Name: Primary triglyceride deposit cardiomyovasculopathy
OrphaCode: 565612
DisorderType: Disease
Name: Inherited arrhythmogenic cardiomyopathy
OrphaCode: 247
DisorderType: Clinical group
Children: Name: Naxos disease
OrphaCode: 34217
DisorderType: Disease
Name: Inherited isolated arrhythmogenic cardiomyopathy
OrphaCode: 217656
DisorderType: Disease
Children: Name: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
OrphaCode: 293910
DisorderType: Clinical subtype
Name: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
OrphaCode: 293899
DisorderType: Clinical subtype
Name: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
OrphaCode: 293888
DisorderType: Clinical subtype
Name: Congenital disorder of glycosylation with dilated cardiomyopathy
OrphaCode: 371176
DisorderType: Category
Children: Name: DK1-CDG
OrphaCode: 91131
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: PGM1-CDG
OrphaCode: 319646
DisorderType: Disease
Name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
OrphaCode: 300751
DisorderType: Disease
Name: Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
OrphaCode: 217616
DisorderType: Category
Children: Name: Acyl-CoA dehydrogenase 9 deficiency
OrphaCode: 99901
DisorderType: Disease
Name: Systemic primary carnitine deficiency
OrphaCode: 158
DisorderType: Disease
Name: Mitochondrial disease with dilated cardiomyopathy
OrphaCode: 217613
DisorderType: Category
Children: Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Histiocytoid cardiomyopathy
OrphaCode: 137675
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Neuromuscular disease with dilated cardiomyopathy
OrphaCode: 217610
DisorderType: Category
Children: Name: Duchenne and Becker muscular dystrophy
OrphaCode: 262
DisorderType: Clinical group
Children: Name: Becker muscular dystrophy
OrphaCode: 98895
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
OrphaCode: 206546
DisorderType: Disease
Name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
OrphaCode: 62
DisorderType: Disease
Name: Emery-Dreifuss muscular dystrophy
OrphaCode: 261
DisorderType: Disease
Children: Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
OrphaCode: 119
DisorderType: Disease
Name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
OrphaCode: 353
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
OrphaCode: 219
DisorderType: Disease
Name: Early-onset myopathy with fatal cardiomyopathy
OrphaCode: 289377
DisorderType: Disease
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: Non-familial rare disease with dilated cardiomyopathy
OrphaCode: 324767
DisorderType: Category
Children: Name: Eosinophilic granulomatosis with polyangiitis
OrphaCode: 183
DisorderType: Disease
Name: HEC syndrome
OrphaCode: 2119
DisorderType: Malformation syndrome
Name: Peripartum cardiomyopathy
OrphaCode: 563
DisorderType: Disease
Name: Syndrome associated with dilated cardiomyopathy
OrphaCode: 217619
DisorderType: Category
Children: Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Kidney tubulopathy-dilated cardiomyopathy syndrome
OrphaCode: 73224
DisorderType: Disease
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Sensorineural deafness with dilated cardiomyopathy
OrphaCode: 217622
DisorderType: Disease
Name: Isobutyryl-CoA dehydrogenase deficiency
OrphaCode: 79159
DisorderType: Disease
Name: Erythrokeratodermia-cardiomyopathy syndrome
OrphaCode: 476096
DisorderType: Disease
Name: Cardiomyopathy-cataract-hip spine disease syndrome
OrphaCode: 1345
DisorderType: Disease
Name: 1p36 deletion syndrome
OrphaCode: 1606
DisorderType: Malformation syndrome
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Dilated cardiomyopathy with ataxia
OrphaCode: 66634
DisorderType: Disease
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Rare hypertrophic cardiomyopathy
OrphaCode: 217569
DisorderType: Category
Children: Name: Rare familial disorder with hypertrophic cardiomyopathy
OrphaCode: 99739
DisorderType: Category
Children: Name: Lysosomal disease with hypertrophic cardiomyopathy
OrphaCode: 217581
DisorderType: Category
Children: Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Glycogen storage disease with hypertrophic cardiomyopathy
OrphaCode: 217572
DisorderType: Category
Children: Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Glycogen storage disease due to muscle and heart glycogen synthase deficiency
OrphaCode: 137625
DisorderType: Disease
Name: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
OrphaCode: 439854
DisorderType: Disease
Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Mitochondrial disease with hypertrophic cardiomyopathy
OrphaCode: 217587
DisorderType: Category
Children: Name: Combined oxidative phosphorylation defect type 17
OrphaCode: 369913
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
OrphaCode: 352563
DisorderType: Disease
Name: Mitochondrial DNA-related cardiomyopathy and hearing loss
OrphaCode: 1349
DisorderType: Malformation syndrome
Name: QRSL1-related combined oxidative phosphorylation defect
OrphaCode: 570491
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
OrphaCode: 314637
DisorderType: Disease
Name: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
OrphaCode: 324525
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
OrphaCode: 217591
DisorderType: Category
Children: Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: Very long chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26793
DisorderType: Disease
Name: Acyl-CoA dehydrogenase 9 deficiency
OrphaCode: 99901
DisorderType: Disease
Name: Carnitine-acylcarnitine translocase deficiency
OrphaCode: 159
DisorderType: Disease
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Multiple acyl-CoA dehydrogenase deficiency
OrphaCode: 26791
DisorderType: Disease
Children: Name: Multiple acyl-CoA dehydrogenase deficiency, mild type
OrphaCode: 394532
DisorderType: Clinical subtype
Name: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
OrphaCode: 394529
DisorderType: Clinical subtype
Name: Syndrome associated with hypertrophic cardiomyopathy
OrphaCode: 217595
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Cardiomyopathy-hypotonia-lactic acidosis syndrome
OrphaCode: 91130
DisorderType: Disease
Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
OrphaCode: 228012
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Non-familial hypertrophic cardiomyopathy
OrphaCode: 217598
DisorderType: Category
Children: Name: Diabetic embryopathy
OrphaCode: 1926
DisorderType: Malformation syndrome
Name: AL amyloidosis
OrphaCode: 85443
DisorderType: Disease
Name: Cirrhotic cardiomyopathy
OrphaCode: 57777
DisorderType: Disease
Name: ATTRV122I amyloidosis
OrphaCode: 85451
DisorderType: Clinical subtype
Name: Familial isolated restrictive cardiomyopathy
OrphaCode: 75249
DisorderType: Disease
Name: Lysosomal disease with restrictive cardiomyopathy
OrphaCode: 217638
DisorderType: Category
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Familial isolated dilated cardiomyopathy
OrphaCode: 154
DisorderType: Disease
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Endocardial fibroelastosis
OrphaCode: 2022
DisorderType: Disease
Name: Rare disorder potentially indicated for liver transplant
OrphaCode: 506210
DisorderType: Category
Children: Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Hereditary ATTR amyloidosis
OrphaCode: 271861
DisorderType: Disease
Children: Name: ATTRV30M amyloidosis
OrphaCode: 85447
DisorderType: Clinical subtype
Name: ATTRV122I amyloidosis
OrphaCode: 85451
DisorderType: Clinical subtype
Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
OrphaCode: 562639
DisorderType: Disease
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Alpha-1-antitrypsin deficiency
OrphaCode: 60
DisorderType: Disease
Name: Autoimmune hepatitis
OrphaCode: 2137
DisorderType: Disease
Children: Name: Autoimmune hepatitis type 1
OrphaCode: 563576
DisorderType: Clinical subtype
Name: Autoimmune hepatitis type 2
OrphaCode: 563581
DisorderType: Clinical subtype
Name: Seronegative autoimmune hepatitis
OrphaCode: 563589
DisorderType: Clinical subtype
Name: Isolated biliary atresia
OrphaCode: 30391
DisorderType: Morphological anomaly
Name: Biliary atresia with splenic malformation syndrome
OrphaCode: 244283
DisorderType: Malformation syndrome
Name: Budd-Chiari syndrome
OrphaCode: 131
DisorderType: Disease
Name: Caroli disease
OrphaCode: 53035
DisorderType: Malformation syndrome
Name: Caroli syndrome
OrphaCode: 480520
DisorderType: Malformation syndrome
Name: Choledochal cyst
OrphaCode: 480501
DisorderType: Morphological anomaly
Name: Congenital anomaly of hepatic vein
OrphaCode: 95507
DisorderType: Morphological anomaly
Name: Congenital portosystemic shunt
OrphaCode: 480531
DisorderType: Morphological anomaly
Name: Crigler-Najjar syndrome
OrphaCode: 205
DisorderType: Disease
Children: Name: Crigler-Najjar syndrome type 1
OrphaCode: 79234
DisorderType: Clinical subtype
Name: Crigler-Najjar syndrome type 2
OrphaCode: 79235
DisorderType: Clinical subtype
Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Familial intrahepatic cholestasis
OrphaCode: 284385
DisorderType: Category
Children: Name: Benign recurrent intrahepatic cholestasis
OrphaCode: 65682
DisorderType: Disease
Children: Name: Benign recurrent intrahepatic cholestasis type 2
OrphaCode: 99961
DisorderType: Clinical subtype
Name: Benign recurrent intrahepatic cholestasis type 1
OrphaCode: 99960
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis
OrphaCode: 172
DisorderType: Disease
Children: Name: Progressive familial intrahepatic cholestasis type 4
OrphaCode: 480483
DisorderType: Clinical subtype
Name: MYO5B-related progressive familial intrahepatic cholestasis
OrphaCode: 480491
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 2
OrphaCode: 79304
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 3
OrphaCode: 79305
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 1
OrphaCode: 79306
DisorderType: Clinical subtype
Name: Hereditary North American Indian childhood cirrhosis
OrphaCode: 168583
DisorderType: Clinical subtype
Name: Progressive familial intrahepatic cholestasis type 5
OrphaCode: 480476
DisorderType: Clinical subtype
Name: Bile acid synthesis defect with cholestasis and malabsorption
OrphaCode: 163631
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Bile acid CoA ligase deficiency and defective amidation
OrphaCode: 276066
DisorderType: Disease
Name: Familial hypercholanemia
OrphaCode: 238475
DisorderType: Disease
Name: Congenital bile acid synthesis defect
OrphaCode: 485631
DisorderType: Clinical group
Children: Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 1
OrphaCode: 79301
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 3
OrphaCode: 79302
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 2
OrphaCode: 79303
DisorderType: Disease
Name: Fulminant viral hepatitis
OrphaCode: 35063
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency
OrphaCode: 364
DisorderType: Disease
Children: Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
OrphaCode: 79258
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Hepatic veno-occlusive disease
OrphaCode: 890
DisorderType: Disease
Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Idiopathic ductopenia
OrphaCode: 480512
DisorderType: Disease
Name: Isolated congenital hepatic fibrosis
OrphaCode: 485426
DisorderType: Disease
Name: Isolated polycystic liver disease
OrphaCode: 2924
DisorderType: Malformation syndrome
Name: Neonatal hemochromatosis
OrphaCode: 446
DisorderType: Disease
Name: Nodular regenerative hyperplasia of the liver
OrphaCode: 48372
DisorderType: Histopathological subtype
Name: Rare hereditary hemochromatosis
OrphaCode: 220489
DisorderType: Category
Children: Name: Symptomatic form of HFE-related hemochromatosis
OrphaCode: 465508
DisorderType: Disease
Name: Non-HFE-related hemochromatosis
OrphaCode: 648569
DisorderType: Clinical group
Children: Name: HJV or HAMP-related hemochromatosis
OrphaCode: 79230
DisorderType: Disease
Name: TFR2-related hemochromatosis
OrphaCode: 225123
DisorderType: Disease
Name: SLC40A1-related hemochromatosis
OrphaCode: 647834
DisorderType: Disease
Name: Digenic hemochromatosis
OrphaCode: 648581
DisorderType: Disease
Name: Sclerosing cholangitis
OrphaCode: 447771
DisorderType: Clinical group
Children: Name: Primary sclerosing cholangitis
OrphaCode: 171
DisorderType: Disease
Name: Neonatal ichthyosis-sclerosing cholangitis syndrome
OrphaCode: 59303
DisorderType: Disease
Name: Isolated neonatal sclerosing cholangitis
OrphaCode: 480556
DisorderType: Disease
Name: Secondary sclerosing cholangitis
OrphaCode: 447774
DisorderType: Disease
Name: IgG4-related sclerosing cholangitis
OrphaCode: 447764
DisorderType: Clinical subtype
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Langerhans cell histiocytosis
OrphaCode: 389
DisorderType: Disease
Name: Macrophage activation syndrome
OrphaCode: 158061
DisorderType: Clinical syndrome
Name: Primary biliary cholangitis
OrphaCode: 186
DisorderType: Disease
Name: Autosomal systemic lupus erythematosus
OrphaCode: 300345
DisorderType: Disease
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Rare tumor of gallbladder and extrahepatic biliary tract
OrphaCode: 306633
DisorderType: Category
Children: Name: Carcinoma of gallbladder and extrahepatic biliary tract
OrphaCode: 56044
DisorderType: Clinical group
Children: Name: Cholangiocarcinoma
OrphaCode: 70567
DisorderType: Disease
Name: Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
OrphaCode: 424996
DisorderType: Disease
Name: Klatskin tumor
OrphaCode: 99978
DisorderType: Disease
Name: Adenocarcinoma of the gallbladder and extrahepatic biliary tract
OrphaCode: 424991
DisorderType: Disease
Name: Combined hepatocellular carcinoma and cholangiocarcinoma
OrphaCode: 529852
DisorderType: Disease
Name: Gallbladder neuroendocrine tumor
OrphaCode: 100086
DisorderType: Disease
Name: Rare tumor of liver and intrahepatic biliary tract
OrphaCode: 306636
DisorderType: Category
Children: Name: Hepatic cystic hamartoma
OrphaCode: 386
DisorderType: Disease
Name: Solitary necrotic nodule of the liver
OrphaCode: 100035
DisorderType: Disease
Name: Undifferentiated embryonal sarcoma of the liver
OrphaCode: 178315
DisorderType: Disease
Name: Hepatoblastoma
OrphaCode: 449
DisorderType: Disease
Name: Hepatocellular adenoma
OrphaCode: 54272
DisorderType: Disease
Name: Rare malignant epithelial tumor of liver and intrahepatic biliary tract
OrphaCode: 424933
DisorderType: Category
Children: Name: Carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424936
DisorderType: Category
Children: Name: Adenocarcinoma of the liver and intrahepatic biliary tract
OrphaCode: 424943
DisorderType: Disease
Name: Squamous cell carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424975
DisorderType: Disease
Name: Biliary cystadenocarcinoma
OrphaCode: 424982
DisorderType: Disease
Name: Cholangiocarcinoma
OrphaCode: 70567
DisorderType: Disease
Name: Fibrolamellar hepatocellular carcinoma
OrphaCode: 401920
DisorderType: Disease
Name: Undifferentiated carcinoma of liver and intrahepatic biliary tract
OrphaCode: 424970
DisorderType: Disease
Name: Combined hepatocellular carcinoma and cholangiocarcinoma
OrphaCode: 529852
DisorderType: Disease
Name: Hepatocellular carcinoma
OrphaCode: 88673
DisorderType: Clinical group
Children: Name: Pediatric hepatocellular carcinoma
OrphaCode: 33402
DisorderType: Disease
Name: Adult hepatocellular carcinoma
OrphaCode: 210159
DisorderType: Disease
Name: Primary hepatic neuroendocrine carcinoma
OrphaCode: 100085
DisorderType: Disease
Name: Liver adenomatosis
OrphaCode: 566841
DisorderType: Disease
Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Rare disorder potentially indicated for kidney transplant
OrphaCode: 506213
DisorderType: Category
Children: Name: Bartter syndrome type 3
OrphaCode: 93605
DisorderType: Clinical subtype
Name: Apparent mineralocorticoid excess
OrphaCode: 320
DisorderType: Disease
Name: Autosomal dominant progressive nephropathy with hypertension
OrphaCode: 88659
DisorderType: Disease
Name: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
OrphaCode: 88660
DisorderType: Disease
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
OrphaCode: 306516
DisorderType: Disease
Children: Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
OrphaCode: 31043
DisorderType: Clinical subtype
Name: Primary hyperoxaluria
OrphaCode: 416
DisorderType: Disease
Children: Name: Primary hyperoxaluria type 3
OrphaCode: 93600
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 2
OrphaCode: 93599
DisorderType: Clinical subtype
Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Renal cell carcinoma
OrphaCode: 217071
DisorderType: Clinical group
Children: Name: Chromophobe renal cell carcinoma
OrphaCode: 319303
DisorderType: Disease
Name: Acquired cystic disease-associated renal cell carcinoma
OrphaCode: 404514
DisorderType: Disease
Name: Collecting duct carcinoma
OrphaCode: 247203
DisorderType: Disease
Name: MiT family translocation renal cell carcinoma
OrphaCode: 319308
DisorderType: Disease
Name: Renal medullary carcinoma
OrphaCode: 319319
DisorderType: Disease
Name: Clear cell renal carcinoma
OrphaCode: 319276
DisorderType: Disease
Children: Name: Multilocular cystic renal neoplasm of low malignant potential
OrphaCode: 319287
DisorderType: Histopathological subtype
Name: Clear cell papillary renal cell carcinoma
OrphaCode: 404511
DisorderType: Histopathological subtype
Name: Mucinous tubular and spindle cell renal carcinoma
OrphaCode: 319322
DisorderType: Disease
Name: Papillary renal cell carcinoma
OrphaCode: 319298
DisorderType: Disease
Name: Tubulocystic renal cell carcinoma
OrphaCode: 319325
DisorderType: Disease
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: RHYNS syndrome
OrphaCode: 140976
DisorderType: Disease
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Adenine phosphoribosyltransferase deficiency
OrphaCode: 976
DisorderType: Disease
Name: Congenital mesoblastic nephroma
OrphaCode: 2665
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Liddle syndrome
OrphaCode: 526
DisorderType: Disease
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Karyomegalic interstitial nephritis
OrphaCode: 401996
DisorderType: Disease
Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Multiloculated renal cyst
OrphaCode: 97366
DisorderType: Morphological anomaly
Name: Nephroblastoma
OrphaCode: 654
DisorderType: Disease
Name: Nephronophthisis
OrphaCode: 655
DisorderType: Disease
Children: Name: Juvenile nephronophthisis
OrphaCode: 93592
DisorderType: Clinical subtype
Name: Late-onset nephronophthisis
OrphaCode: 93589
DisorderType: Clinical subtype
Name: Infantile nephronophthisis
OrphaCode: 93591
DisorderType: Clinical subtype
Name: Familial hyperaldosteronism
OrphaCode: 235936
DisorderType: Clinical group
Children: Name: Familial hyperaldosteronism type III
OrphaCode: 251274
DisorderType: Disease
Name: Familial hyperaldosteronism type IV
OrphaCode: 642671
DisorderType: Disease
Name: Familial hyperaldosteronism type I
OrphaCode: 403
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Ventriculomegaly-cystic kidney disease
OrphaCode: 443988
DisorderType: Disease
Name: Non-syndromic renal or urinary tract malformation
OrphaCode: 93546
DisorderType: Category
Children: Name: Oligomeganephronia
OrphaCode: 2260
DisorderType: Morphological anomaly
Name: Multicystic dysplastic kidney
OrphaCode: 1851
DisorderType: Morphological anomaly
Children: Name: Unilateral multicystic dysplastic kidney
OrphaCode: 97363
DisorderType: Clinical subtype
Name: Bilateral multicystic dysplastic kidney
OrphaCode: 97364
DisorderType: Clinical subtype
Name: Medullary sponge kidney
OrphaCode: 1309
DisorderType: Morphological anomaly
Name: Congenital megacalycosis
OrphaCode: 93109
DisorderType: Morphological anomaly
Children: Name: Unilateral congenital megacalycosis
OrphaCode: 93176
DisorderType: Clinical subtype
Name: Congenital bilateral megacalycosis
OrphaCode: 93177
DisorderType: Clinical subtype
Name: Megacystis-megaureter syndrome
OrphaCode: 238637
DisorderType: Disease
Name: Renal agenesis
OrphaCode: 411709
DisorderType: Morphological anomaly
Children: Name: Renal agenesis, bilateral
OrphaCode: 1848
DisorderType: Clinical subtype
Name: Renal agenesis, unilateral
OrphaCode: 93100
DisorderType: Clinical subtype
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Renal dysplasia
OrphaCode: 93108
DisorderType: Morphological anomaly
Children: Name: Renal dysplasia, unilateral
OrphaCode: 93172
DisorderType: Clinical subtype
Name: Renal dysplasia, bilateral
OrphaCode: 93173
DisorderType: Clinical subtype
Name: Familial vesicoureteral reflux
OrphaCode: 289365
DisorderType: Malformation syndrome
Name: Renal tubular dysgenesis
OrphaCode: 3033
DisorderType: Malformation syndrome
Children: Name: Drug-related renal tubular dysgenesis
OrphaCode: 97368
DisorderType: Etiological subtype
Name: Renal tubular dysgenesis of genetic origin
OrphaCode: 97369
DisorderType: Etiological subtype
Name: Renal tubular dysgenesis due to twin-twin transfusion
OrphaCode: 97367
DisorderType: Etiological subtype
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Renal hypoplasia
OrphaCode: 93101
DisorderType: Morphological anomaly
Children: Name: Renal hypoplasia, bilateral
OrphaCode: 97362
DisorderType: Clinical subtype
Name: Renal hypoplasia, unilateral
OrphaCode: 97361
DisorderType: Clinical subtype
Name: Congenital urachal anomaly
OrphaCode: 435743
DisorderType: Category
Children: Name: Patent urachus
OrphaCode: 431341
DisorderType: Morphological anomaly
Name: Urachal sinus
OrphaCode: 431344
DisorderType: Morphological anomaly
Name: Urachal diverticulum
OrphaCode: 431347
DisorderType: Morphological anomaly
Name: Urachal cyst
OrphaCode: 488
DisorderType: Morphological anomaly
Name: Non-syndromic supernumerary kidneys
OrphaCode: 652528
DisorderType: Morphological anomaly
Name: Syndromic renal or urinary tract malformation
OrphaCode: 93547
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Renal caliceal diverticuli-deafness syndrome
OrphaCode: 2838
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: Cystic hamartoma of lung and kidney
OrphaCode: 2111
DisorderType: Disease
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Double uterus-hemivagina-renal agenesis syndrome
OrphaCode: 3411
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Urofacial syndrome
OrphaCode: 2704
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Renal nutcracker syndrome
OrphaCode: 71273
DisorderType: Disease
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Thyrocerebrorenal syndrome
OrphaCode: 3327
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Distal renal tubular acidosis
OrphaCode: 18
DisorderType: Disease
Children: Name: Autosomal dominant distal renal tubular acidosis
OrphaCode: 93608
DisorderType: Clinical subtype
Name: Distal renal tubular acidosis with anemia
OrphaCode: 93610
DisorderType: Clinical subtype
Name: Autosomal recessive distal renal tubular acidosis
OrphaCode: 402041
DisorderType: Clinical subtype
Name: Senior-Boichis syndrome
OrphaCode: 84081
DisorderType: Disease
Name: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
OrphaCode: 528105
DisorderType: Disease
Name: Hereditary renal hypouricemia
OrphaCode: 94088
DisorderType: Malformation syndrome
Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Autosomal dominant polycystic kidney disease
OrphaCode: 730
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Primary Fanconi renotubular syndrome
OrphaCode: 3337
DisorderType: Disease
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to impaired androgen production
OrphaCode: 325357
DisorderType: Category
Children: Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a testosterone synthesis defect
OrphaCode: 90783
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to a cholesterol synthesis defect
OrphaCode: 325511
DisorderType: Category
Children: Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
OrphaCode: 443090
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
OrphaCode: 443087
DisorderType: Disease
Name: 46,XY difference of sex development induced by maternal exposure to endocrine disruptors
OrphaCode: 325537
DisorderType: Category
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Non-syndromic urogenital tract malformation
OrphaCode: 165704
DisorderType: Category
Children: Name: Non-syndromic urogenital tract malformation of female
OrphaCode: 182117
DisorderType: Category
Children: Name: Non-syndromic uterovaginal malformation
OrphaCode: 180065
DisorderType: Category
Children: Name: Müllerian aplasia
OrphaCode: 73217
DisorderType: Clinical group
Children: Name: Partial bilateral aplasia of the Müllerian ducts
OrphaCode: 180068
DisorderType: Clinical group
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Unilateral aplasia of the Müllerian ducts
OrphaCode: 180071
DisorderType: Clinical group
Children: Name: True unicornuate uterus
OrphaCode: 180074
DisorderType: Morphological anomaly
Name: Pseudounicornuate uterus
OrphaCode: 180079
DisorderType: Morphological anomaly
Name: Septate uterus
OrphaCode: 180122
DisorderType: Clinical group
Children: Name: Complete septate uterus
OrphaCode: 180126
DisorderType: Morphological anomaly
Name: Partial septate uterus
OrphaCode: 180129
DisorderType: Morphological anomaly
Name: Bicornuate uterus
OrphaCode: 180134
DisorderType: Clinical group
Children: Name: Didelphys uterus
OrphaCode: 180086
DisorderType: Morphological anomaly
Children: Name: Bicervical bicornuate uterus and blind hemivagina
OrphaCode: 180106
DisorderType: Clinical subtype
Name: Bicervical bicornuate uterus with patent cervix and vagina
OrphaCode: 180111
DisorderType: Clinical subtype
Name: Unicervical bicornuate uterus
OrphaCode: 180114
DisorderType: Morphological anomaly
Name: Uterine hypoplasia
OrphaCode: 180139
DisorderType: Morphological anomaly
Name: Absence of uterine body
OrphaCode: 180142
DisorderType: Morphological anomaly
Name: Uterine cervical aplasia and agenesis
OrphaCode: 180145
DisorderType: Morphological anomaly
Name: Diethylstilbestrol syndrome
OrphaCode: 1916
DisorderType: Malformation syndrome
Name: Rare vaginal malformation
OrphaCode: 180151
DisorderType: Category
Children: Name: Vaginal atresia
OrphaCode: 65681
DisorderType: Morphological anomaly
Name: Isolated partial vaginal agenesis
OrphaCode: 96269
DisorderType: Morphological anomaly
Name: Septate vagina
OrphaCode: 180154
DisorderType: Morphological anomaly
Children: Name: Transverse vaginal septum
OrphaCode: 180160
DisorderType: Clinical subtype
Name: Longitudinal vaginal septum
OrphaCode: 180157
DisorderType: Clinical subtype
Name: Isolated female hypospadias
OrphaCode: 603515
DisorderType: Morphological anomaly
Name: Non-syndromic urogenital tract malformation of male
OrphaCode: 182121
DisorderType: Category
Children: Name: Penile agenesis
OrphaCode: 49
DisorderType: Morphological anomaly
Name: Idiopathic isolated micropenis
OrphaCode: 95707
DisorderType: Morphological anomaly
Name: Congenital agenesis of the scrotum
OrphaCode: 495879
DisorderType: Morphological anomaly
Name: Non-syndromic posterior hypospadias
OrphaCode: 95706
DisorderType: Morphological anomaly
Name: Diphallia
OrphaCode: 227
DisorderType: Morphological anomaly
Name: Congenital bilateral absence of vas deferens
OrphaCode: 48
DisorderType: Morphological anomaly
Name: Penoscrotal transposition
OrphaCode: 2842
DisorderType: Morphological anomaly
Name: Non-syndromic urogenital tract malformation of male and female
OrphaCode: 182124
DisorderType: Category
Children: Name: Congenital urachal anomaly
OrphaCode: 435743
DisorderType: Category
Children: Name: Patent urachus
OrphaCode: 431341
DisorderType: Morphological anomaly
Name: Urachal sinus
OrphaCode: 431344
DisorderType: Morphological anomaly
Name: Urachal diverticulum
OrphaCode: 431347
DisorderType: Morphological anomaly
Name: Urachal cyst
OrphaCode: 488
DisorderType: Morphological anomaly
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Familial vesicoureteral reflux
OrphaCode: 289365
DisorderType: Malformation syndrome
Name: Acquired monoclonal Ig light chain-associated Fanconi syndrome
OrphaCode: 91136
DisorderType: Disease
Name: Adult familial nephronophthisis-spastic quadriparesia syndrome
OrphaCode: 2666
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Enamel-renal syndrome
OrphaCode: 1031
DisorderType: Malformation syndrome
Name: Autosomal dominant tubulointerstitial kidney disease
OrphaCode: 34149
DisorderType: Disease
Children: Name: MUC1-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88949
DisorderType: Clinical subtype
Name: UMOD-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 88950
DisorderType: Clinical subtype
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: REN-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 217330
DisorderType: Clinical subtype
Name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OrphaCode: 88924
DisorderType: Disease
Name: Autosomal recessive infantile hypercalcemia
OrphaCode: 300547
DisorderType: Disease
Name: Autosomal recessive polycystic kidney disease
OrphaCode: 731
DisorderType: Disease
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Bartter syndrome type 4
OrphaCode: 89938
DisorderType: Clinical subtype
Name: Cataract-nephropathy-encephalopathy syndrome
OrphaCode: 1380
DisorderType: Malformation syndrome
Name: Clear cell sarcoma of kidney
OrphaCode: 457246
DisorderType: Disease
Name: Congenital renal artery stenosis
OrphaCode: 97598
DisorderType: Disease
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Cystinuria
OrphaCode: 214
DisorderType: Disease
Children: Name: Cystinuria type A
OrphaCode: 93612
DisorderType: Etiological subtype
Name: Cystinuria type B
OrphaCode: 93613
DisorderType: Etiological subtype
Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Pseudohypoaldosteronism type 2
OrphaCode: 757
DisorderType: Disease
Children: Name: Pseudohypoaldosteronism type 2D
OrphaCode: 300525
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2E
OrphaCode: 300530
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2A
OrphaCode: 88938
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2B
OrphaCode: 88939
DisorderType: Etiological subtype
Name: Pseudohypoaldosteronism type 2C
OrphaCode: 88940
DisorderType: Etiological subtype
Name: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
OrphaCode: 404476
DisorderType: Malformation syndrome
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
OrphaCode: 363694
DisorderType: Disease
Name: Hypotonia-cystinuria type 1 syndrome
OrphaCode: 238517
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria syndrome
OrphaCode: 163690
DisorderType: Disease
Name: 2p21 microdeletion syndrome
OrphaCode: 163693
DisorderType: Disease
Name: Atypical hypotonia-cystinuria syndrome
OrphaCode: 238523
DisorderType: Disease
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Idiopathic hypercalciuria
OrphaCode: 2197
DisorderType: Disease
Name: Thrombotic thrombocytopenic purpura
OrphaCode: 54057
DisorderType: Disease
Children: Name: Immune-mediated thrombotic thrombocytopenic purpura
OrphaCode: 93585
DisorderType: Clinical subtype
Name: Congenital thrombotic thrombocytopenic purpura
OrphaCode: 93583
DisorderType: Clinical subtype
Name: Familial hyperthyroidism due to mutations in TSH receptor
OrphaCode: 424
DisorderType: Disease
Name: Hemolytic uremic syndrome
OrphaCode: 544458
DisorderType: Clinical group
Children: Name: Infection-related hemolytic uremic syndrome
OrphaCode: 544482
DisorderType: Disease
Children: Name: Shiga toxin-associated hemolytic uremic syndrome
OrphaCode: 90038
DisorderType: Clinical subtype
Name: Streptococcus pneumoniae-associated hemolytic uremic syndrome
OrphaCode: 544493
DisorderType: Clinical subtype
Name: Atypical hemolytic uremic syndrome
OrphaCode: 2134
DisorderType: Disease
Children: Name: Atypical hemolytic uremic syndrome with anti-factor H antibodies
OrphaCode: 93581
DisorderType: Etiological subtype
Name: Atypical hemolytic uremic syndrome with complement gene abnormality
OrphaCode: 544472
DisorderType: Etiological subtype
Name: Hemolytic uremic syndrome with DGKE deficiency
OrphaCode: 357008
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Vitamin B12-responsive methylmalonic acidemia
OrphaCode: 28
DisorderType: Disease
Children: Name: Vitamin B12-responsive methylmalonic acidemia, type cblDv2
OrphaCode: 308442
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia type cblA
OrphaCode: 79310
DisorderType: Clinical subtype
Name: Vitamin B12-responsive methylmalonic acidemia type cblB
OrphaCode: 79311
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia
OrphaCode: 27
DisorderType: Disease
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
OrphaCode: 289916
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
OrphaCode: 79312
DisorderType: Clinical subtype
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Glomerular disease
OrphaCode: 93548
DisorderType: Category
Children: Name: Immunoglobulin A nephropathy
OrphaCode: 34145
DisorderType: Disease
Name: Lipoprotein glomerulopathy
OrphaCode: 329481
DisorderType: Disease
Name: Collagen-related glomerular basement membrane disease
OrphaCode: 544590
DisorderType: Category
Children: Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: HANAC syndrome
OrphaCode: 73229
DisorderType: Disease
Name: Systemic disease with glomerulopathy as a major feature
OrphaCode: 567554
DisorderType: Category
Children: Name: Genetic systemic disease with glomerulopathy as a major feature
OrphaCode: 567556
DisorderType: Category
Children: Name: Hereditary amyloidosis with primary renal involvement
OrphaCode: 85450
DisorderType: Disease
Name: Autoimmune interstitial lung disease-arthritis syndrome
OrphaCode: 444092
DisorderType: Disease
Name: Familial Mediterranean fever
OrphaCode: 342
DisorderType: Disease
Name: Muckle-Wells syndrome
OrphaCode: 575
DisorderType: Disease
Name: Hypocomplementemic urticarial vasculitis
OrphaCode: 36412
DisorderType: Disease
Name: Non-genetic systemic disease with glomerulopathy as a major feature
OrphaCode: 567558
DisorderType: Category
Children: Name: Polymyositis
OrphaCode: 732
DisorderType: Disease
Name: Juvenile polymyositis
OrphaCode: 93568
DisorderType: Disease
Name: Dermatomyositis
OrphaCode: 221
DisorderType: Disease
Children: Name: Amyopathic dermatomyositis
OrphaCode: 645617
DisorderType: Clinical subtype
Name: Adermatopathic dermatomyositis
OrphaCode: 645626
DisorderType: Clinical subtype
Name: Classical dermatomyositis
OrphaCode: 645613
DisorderType: Clinical subtype
Name: Juvenile dermatomyositis
OrphaCode: 93672
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Systemic sclerosis
OrphaCode: 90291
DisorderType: Disease
Children: Name: Limited cutaneous systemic sclerosis
OrphaCode: 220402
DisorderType: Clinical subtype
Name: Limited systemic sclerosis
OrphaCode: 220407
DisorderType: Clinical subtype
Name: Diffuse cutaneous systemic sclerosis
OrphaCode: 220393
DisorderType: Clinical subtype
Name: AA amyloidosis
OrphaCode: 85445
DisorderType: Disease
Name: IgG4-related kidney disease
OrphaCode: 449395
DisorderType: Clinical subtype
Name: Mixed connective tissue disease
OrphaCode: 809
DisorderType: Disease
Name: Adult-onset Still disease
OrphaCode: 829
DisorderType: Disease
Name: Reynolds syndrome
OrphaCode: 779
DisorderType: Disease
Name: AApoAIV amyloidosis
OrphaCode: 439232
DisorderType: Disease
Name: AL amyloidosis
OrphaCode: 85443
DisorderType: Disease
Name: AH amyloidosis
OrphaCode: 442582
DisorderType: Disease
Name: Non-amyloid monoclonal immunoglobulin deposition disease
OrphaCode: 86861
DisorderType: Disease
Children: Name: Heavy chain deposition disease
OrphaCode: 93556
DisorderType: Clinical subtype
Name: Light and heavy chain deposition disease
OrphaCode: 93557
DisorderType: Clinical subtype
Name: Light chain deposition disease
OrphaCode: 93558
DisorderType: Clinical subtype
Name: Systemic vasculitis associated with glomerulopathy
OrphaCode: 567560
DisorderType: Category
Children: Name: Systemic lupus erythematosus
OrphaCode: 536
DisorderType: Disease
Name: Eosinophilic granulomatosis with polyangiitis
OrphaCode: 183
DisorderType: Disease
Name: Relapsing polychondritis
OrphaCode: 728
DisorderType: Disease
Name: Giant cell arteritis
OrphaCode: 397
DisorderType: Disease
Name: Microscopic polyangiitis
OrphaCode: 727
DisorderType: Disease
Name: Immunoglobulin A vasculitis
OrphaCode: 761
DisorderType: Disease
Name: Polyarteritis nodosa
OrphaCode: 767
DisorderType: Disease
Children: Name: Secondary polyarteritis nodosa
OrphaCode: 439746
DisorderType: Clinical subtype
Name: Primary polyarteritis nodosa
OrphaCode: 439737
DisorderType: Clinical subtype
Children: Name: Cutaneous polyarteritis nodosa
OrphaCode: 439729
DisorderType: Clinical subtype
Name: Systemic polyarteritis nodosa
OrphaCode: 439762
DisorderType: Clinical subtype
Name: Single-organ polyarteritis nodosa
OrphaCode: 439755
DisorderType: Clinical subtype
Name: Granulomatosis with polyangiitis
OrphaCode: 900
DisorderType: Disease
Name: Takayasu arteritis
OrphaCode: 3287
DisorderType: Disease
Name: Pauci-immune glomerulonephritis
OrphaCode: 93126
DisorderType: Disease
Children: Name: Pauci-immune glomerulonephritis without ANCA
OrphaCode: 97564
DisorderType: Clinical subtype
Name: Pauci-immune glomerulonephritis with ANCA
OrphaCode: 97563
DisorderType: Clinical subtype
Name: Anti-glomerular basement membrane disease
OrphaCode: 375
DisorderType: Disease
Name: Cryoglobulinemic vasculitis
OrphaCode: 91138
DisorderType: Disease
Children: Name: Mixed cryoglobulinemia type III
OrphaCode: 93555
DisorderType: Etiological subtype
Name: Mixed cryoglobulinemia type II
OrphaCode: 93554
DisorderType: Etiological subtype
Name: Buerger disease
OrphaCode: 36258
DisorderType: Disease
Name: Pediatric systemic lupus erythematosus
OrphaCode: 93552
DisorderType: Disease
Name: Nephrotic syndrome without extrarenal manifestations
OrphaCode: 567564
DisorderType: Category
Children: Name: Genetic nephrotic syndrome
OrphaCode: 564127
DisorderType: Clinical group
Children: Name: Genetic steroid-resistant nephrotic syndrome
OrphaCode: 656
DisorderType: Disease
Name: Congenital nephrotic syndrome, Finnish type
OrphaCode: 839
DisorderType: Disease
Name: Idiopathic nephrotic syndrome
OrphaCode: 357502
DisorderType: Clinical group
Children: Name: Idiopathic steroid-resistant nephrotic syndrome
OrphaCode: 567548
DisorderType: Clinical syndrome
Children: Name: Idiopathic multidrug-resistant nephrotic syndrome
OrphaCode: 567550
DisorderType: Clinical subtype
Name: Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
OrphaCode: 567552
DisorderType: Clinical subtype
Name: Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
OrphaCode: 567546
DisorderType: Clinical syndrome
Name: Idiopathic steroid-sensitive nephrotic syndrome
OrphaCode: 69061
DisorderType: Clinical syndrome
Name: Idiopathic non-lupus full-house nephropathy
OrphaCode: 567544
DisorderType: Clinical syndrome
Name: Disorder with multisystemic involvement and glomerulopathy
OrphaCode: 567562
DisorderType: Category
Children: Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: Nail-patella-like renal disease
OrphaCode: 2613
DisorderType: Disease
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
OrphaCode: 69063
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
OrphaCode: 93114
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
OrphaCode: 506334
DisorderType: Disease
Name: Action myoclonus-renal failure syndrome
OrphaCode: 163696
DisorderType: Disease
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: Primary membranous glomerulonephritis
OrphaCode: 97560
DisorderType: Disease
Name: Primary membranoproliferative glomerulonephritis
OrphaCode: 54370
DisorderType: Disease
Children: Name: Immunoglobulin-mediated membranoproliferative glomerulonephritis
OrphaCode: 329903
DisorderType: Clinical subtype
Name: C3 glomerulopathy
OrphaCode: 329918
DisorderType: Clinical subtype
Children: Name: Dense deposit disease
OrphaCode: 93571
DisorderType: Histopathological subtype
Name: C3 glomerulonephritis
OrphaCode: 329931
DisorderType: Histopathological subtype
Name: Fibronectin glomerulopathy
OrphaCode: 84090
DisorderType: Disease
Name: Collagen type III glomerulopathy
OrphaCode: 84087
DisorderType: Disease
Name: Immunotactoid or fibrillary glomerulopathy
OrphaCode: 91137
DisorderType: Clinical group
Children: Name: Non-amyloid fibrillary glomerulopathy
OrphaCode: 97566
DisorderType: Disease
Name: Immunotactoid glomerulopathy
OrphaCode: 97567
DisorderType: Disease
Name: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
OrphaCode: 620371
DisorderType: Disease
Name: Bartter syndrome type 1
OrphaCode: 620217
DisorderType: Clinical subtype
Name: Bartter syndrome type 2
OrphaCode: 620220
DisorderType: Clinical subtype
Name: Rare disorder potentially indicated for bowel transplant
OrphaCode: 506216
DisorderType: Category
Children: Name: Chronic intestinal failure
OrphaCode: 294422
DisorderType: Clinical syndrome
Name: Congenital enteropathy involving intestinal mucosa development
OrphaCode: 104007
DisorderType: Category
Children: Name: Microvillus inclusion disease
OrphaCode: 2290
DisorderType: Disease
Name: Enteric anendocrinosis
OrphaCode: 83620
DisorderType: Disease
Name: Congenital tufting enteropathy
OrphaCode: 92050
DisorderType: Disease
Name: Congenital enterocyte heparan sulfate deficiency
OrphaCode: 103910
DisorderType: Disease
Name: Congenital pancreatic cyst
OrphaCode: 313906
DisorderType: Morphological anomaly
Name: Cryptogenic multifocal ulcerous stenosing enteritis
OrphaCode: 468635
DisorderType: Disease
Name: Intestinal polyposis syndrome
OrphaCode: 104010
DisorderType: Clinical group
Children: Name: Familial adenomatous polyposis
OrphaCode: 733
DisorderType: Disease
Children: Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Turcot syndrome with polyposis
OrphaCode: 99818
DisorderType: Clinical subtype
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Juvenile polyposis syndrome
OrphaCode: 2929
DisorderType: Disease
Children: Name: Generalized juvenile polyposis/juvenile polyposis coli
OrphaCode: 329971
DisorderType: Clinical subtype
Name: Juvenile polyposis of infancy
OrphaCode: 79076
DisorderType: Clinical subtype
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Cronkhite-Canada syndrome
OrphaCode: 2930
DisorderType: Disease
Name: Hereditary mixed polyposis syndrome
OrphaCode: 157794
DisorderType: Disease
Name: Serrated polyposis syndrome
OrphaCode: 157798
DisorderType: Disease
Name: Attenuated familial adenomatous polyposis
OrphaCode: 220460
DisorderType: Disease
Children: Name: MUTYH-related attenuated familial adenomatous polyposis
OrphaCode: 247798
DisorderType: Clinical subtype
Name: APC-related attenuated familial adenomatous polyposis
OrphaCode: 247806
DisorderType: Clinical subtype
Name: AXIN2-related attenuated familial adenomatous polyposis
OrphaCode: 401911
DisorderType: Clinical subtype
Name: Polymerase proofreading-related adenomatous polyposis
OrphaCode: 447877
DisorderType: Clinical subtype
Name: NTHL1-related attenuated familial adenomatous polyposis
OrphaCode: 454840
DisorderType: Clinical subtype
Name: MSH3-related attenuated familial adenomatous polyposis
OrphaCode: 480536
DisorderType: Clinical subtype
Name: Rare disease involving intestinal motility
OrphaCode: 104009
DisorderType: Category
Children: Name: Hirschsprung disease
OrphaCode: 388
DisorderType: Disease
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Chronic intestinal pseudoobstruction
OrphaCode: 2978
DisorderType: Clinical syndrome
Children: Name: Neuronal intestinal pseudoobstruction
OrphaCode: 99811
DisorderType: Etiological subtype
Name: Myopathic intestinal pseudoobstruction
OrphaCode: 104077
DisorderType: Etiological subtype
Name: Unclassified intestinal pseudoobstruction
OrphaCode: 104078
DisorderType: Etiological subtype
Name: Hirschsprung disease-ganglioneuroblastoma syndrome
OrphaCode: 2151
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
OrphaCode: 314373
DisorderType: Disease
Name: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
OrphaCode: 314376
DisorderType: Disease
Name: Familial visceral myopathy
OrphaCode: 2604
DisorderType: Disease
Name: Rare inflammatory bowel disease
OrphaCode: 104012
DisorderType: Category
Children: Name: Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
OrphaCode: 566175
DisorderType: Disease
Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Cutaneous photosensitivity-lethal colitis syndrome
OrphaCode: 2881
DisorderType: Disease
Name: Undetermined colitis
OrphaCode: 103920
DisorderType: Disease
Name: Cap polyposis
OrphaCode: 160148
DisorderType: Disease
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: IL21-related infantile inflammatory bowel disease
OrphaCode: 477661
DisorderType: Disease
Name: Immune dysregulation with inflammatory bowel disease
OrphaCode: 529974
DisorderType: Clinical group
Children: Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
OrphaCode: 529977
DisorderType: Disease
Name: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
OrphaCode: 238569
DisorderType: Disease
Name: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
OrphaCode: 529980
DisorderType: Disease
Name: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
OrphaCode: 676125
DisorderType: Disease
Name: Infantile inflammatory bowel disease with neurological involvement
OrphaCode: 565788
DisorderType: Disease
Name: Necrotizing enterocolitis
OrphaCode: 391673
DisorderType: Disease
Name: X-linked lymphoproliferative disease due to XIAP deficiency
OrphaCode: 538934
DisorderType: Disease
Name: TRIM22-related inflammatory bowel disease
OrphaCode: 597201
DisorderType: Disease
Name: ALPI-related inflammatory bowel disease
OrphaCode: 597887
DisorderType: Disease
Name: Rare tumor of intestine
OrphaCode: 104011
DisorderType: Category
Children: Name: Rare tumor of small intestine
OrphaCode: 423793
DisorderType: Category
Children: Name: Mesenchymal tumor of small intestine
OrphaCode: 423798
DisorderType: Category
Children: Name: Gastrointestinal stromal tumor
OrphaCode: 44890
DisorderType: Disease
Name: Leiomyosarcoma of small intestine
OrphaCode: 104076
DisorderType: Disease
Name: Monomorphic epitheliotropic intestinal T-cell lymphoma
OrphaCode: 652658
DisorderType: Disease
Name: Rare epithelial tumor of small intestine
OrphaCode: 425368
DisorderType: Category
Children: Name: Neuroendocrine tumor of the small intestine
OrphaCode: 423975
DisorderType: Category
Children: Name: Jejunal neuroendocrine tumor
OrphaCode: 100077
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Ileal neuroendocrine tumor
OrphaCode: 100078
DisorderType: Disease
Name: Duodenal neuroendocrine tumor
OrphaCode: 100076
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: Rare carcinoma of small intestine
OrphaCode: 423957
DisorderType: Category
Children: Name: Adenocarcinoma of the small intestine
OrphaCode: 104075
DisorderType: Disease
Name: Squamous cell carcinoma of the small intestine
OrphaCode: 423968
DisorderType: Disease
Name: Enteropathy-associated T-cell lymphoma
OrphaCode: 86880
DisorderType: Disease
Name: Epithelial tumor of the appendix
OrphaCode: 423982
DisorderType: Category
Children: Name: Neuroendocrine neoplasm of appendix
OrphaCode: 100079
DisorderType: Disease
Children: Name: Classic neuroendocrine tumor of appendix
OrphaCode: 329977
DisorderType: Clinical subtype
Name: Goblet cell carcinoma
OrphaCode: 329984
DisorderType: Clinical subtype
Name: Mucinous adenocarcinoma of the appendix
OrphaCode: 391723
DisorderType: Disease
Name: Rare epithelial tumor of colon
OrphaCode: 423991
DisorderType: Category
Children: Name: Squamous cell carcinoma of the colon
OrphaCode: 423994
DisorderType: Disease
Name: Neuroendocrine tumor of the colon
OrphaCode: 100080
DisorderType: Disease
Name: Rare epithelial tumor of rectum
OrphaCode: 423998
DisorderType: Category
Children: Name: Neuroendocrine tumor of the rectum
OrphaCode: 100081
DisorderType: Disease
Name: Squamous cell carcinoma of the rectum
OrphaCode: 424002
DisorderType: Disease
Name: Epithelial tumor of anal canal
OrphaCode: 424010
DisorderType: Category
Children: Name: Neuroendocrine tumor of anal canal
OrphaCode: 100082
DisorderType: Disease
Name: Carcinoma of the anal canal
OrphaCode: 424013
DisorderType: Clinical group
Children: Name: Adenocarcinoma of the anal canal
OrphaCode: 424016
DisorderType: Disease
Name: Squamous cell carcinoma of the anal canal
OrphaCode: 424019
DisorderType: Disease
Name: Short bowel syndrome
OrphaCode: 104008
DisorderType: Clinical group
Children: Name: Secondary short bowel syndrome
OrphaCode: 95427
DisorderType: Disease
Name: Primary short bowel syndrome
OrphaCode: 365563
DisorderType: Clinical group
Children: Name: Small bowel atresia
OrphaCode: 1201
DisorderType: Morphological anomaly
Name: Congenital short bowel syndrome
OrphaCode: 2301
DisorderType: Morphological anomaly
Name: Gastroschisis
OrphaCode: 2368
DisorderType: Morphological anomaly
Name: Non-syndromic visceral malformation
OrphaCode: 108971
DisorderType: Category
Children: Name: Familial isolated congenital asplenia
OrphaCode: 101351
DisorderType: Morphological anomaly
Name: Congenital respiratory-biliary fistula
OrphaCode: 2040
DisorderType: Morphological anomaly
Name: Situs inversus totalis
OrphaCode: 101063
DisorderType: Morphological anomaly
Name: Situs ambiguus
OrphaCode: 157769
DisorderType: Morphological anomaly
Name: Isolated splenogonadal fusion
OrphaCode: 457083
DisorderType: Morphological anomaly
Name: Caroli disease
OrphaCode: 53035
DisorderType: Malformation syndrome
Name: Partial pancreatic agenesis
OrphaCode: 2805
DisorderType: Morphological anomaly
Name: Annular pancreas
OrphaCode: 675
DisorderType: Morphological anomaly
Name: Accessory pancreas
OrphaCode: 674
DisorderType: Morphological anomaly
Name: Isolated biliary atresia
OrphaCode: 30391
DisorderType: Morphological anomaly
Name: Gallbladder duplication
OrphaCode: 662388
DisorderType: Morphological anomaly
Name: Primary malignant peritoneal tumor
OrphaCode: 168807
DisorderType: Category
Children: Name: Primary peritoneal carcinoma
OrphaCode: 168829
DisorderType: Disease
Name: Desmoplastic small round cell tumor
OrphaCode: 83469
DisorderType: Disease
Name: Malignant peritoneal mesothelioma
OrphaCode: 168811
DisorderType: Disease
Name: Peritoneal mesothelioma in situ
OrphaCode: 676036
DisorderType: Disease
Name: Congenital intestinal transport defect
OrphaCode: 104003
DisorderType: Category
Children: Name: Hereditary fructose intolerance
OrphaCode: 469
DisorderType: Disease
Name: Glucose-galactose malabsorption
OrphaCode: 35710
DisorderType: Disease
Name: Congenital chloride diarrhea
OrphaCode: 53689
DisorderType: Disease
Name: Congenital sodium diarrhea
OrphaCode: 103908
DisorderType: Disease
Name: Syndromic congenital sodium diarrhea
OrphaCode: 563708
DisorderType: Disease
Name: Intractable diarrhea of infancy
OrphaCode: 73014
DisorderType: Category
Children: Name: Microvillus inclusion disease
OrphaCode: 2290
DisorderType: Disease
Name: Congenital sodium diarrhea
OrphaCode: 103908
DisorderType: Disease
Name: Syndromic congenital sodium diarrhea
OrphaCode: 563708
DisorderType: Disease
Name: Congenital chronic diarrhea with protein-losing enteropathy
OrphaCode: 329242
DisorderType: Disease
Name: Chronic diarrhea with villous atrophy
OrphaCode: 1670
DisorderType: Disease
Name: Congenital tufting enteropathy
OrphaCode: 92050
DisorderType: Disease
Name: Intractable diarrhea-choanal atresia-eye anomalies syndrome
OrphaCode: 137622
DisorderType: Malformation syndrome
Name: Primary autoimmune enteropathy
OrphaCode: 522037
DisorderType: Disease
Name: Syndromic autoimmune enteropathy
OrphaCode: 522043
DisorderType: Clinical group
Children: Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Immunodeficiency due to CD25 deficiency
OrphaCode: 169100
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Syndromic diarrhea
OrphaCode: 84064
DisorderType: Disease
Name: Anorectal malformation
OrphaCode: 96346
DisorderType: Category
Children: Name: Syndromic anorectal malformation
OrphaCode: 117573
DisorderType: Category
Children: Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Ring chromosome 13 syndrome
OrphaCode: 96176
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Maternal uniparental disomy of chromosome 16
OrphaCode: 96185
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Lowe-Kohn-Cohen syndrome
OrphaCode: 2408
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: 6q terminal deletion syndrome
OrphaCode: 75857
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Caudal duplication
OrphaCode: 1756
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Non-syndromic anorectal malformation
OrphaCode: 557
DisorderType: Clinical group
Children: Name: Non-syndromic anorectal malformation with perineal fistula
OrphaCode: 600952
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectourethral fistula
OrphaCode: 600961
DisorderType: Morphological anomaly
Children: Name: Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
OrphaCode: 600966
DisorderType: Clinical subtype
Name: Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
OrphaCode: 600975
DisorderType: Clinical subtype
Name: Non-syndromic anorectal malformation with rectovesical fistula
OrphaCode: 600984
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with vestibular fistula
OrphaCode: 600993
DisorderType: Morphological anomaly
Name: Non-syndromic cloacal malformation
OrphaCode: 600998
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation without fistula
OrphaCode: 601002
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with anal stenosis
OrphaCode: 601008
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with pouch colon
OrphaCode: 601013
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectal atresia
OrphaCode: 601018
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectal stenosis
OrphaCode: 601023
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectovaginal fistula
OrphaCode: 601028
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with H-type fistula
OrphaCode: 601033
DisorderType: Morphological anomaly
Name: Disseminated peritoneal leiomyomatosis
OrphaCode: 71274
DisorderType: Disease
Name: Intestinal malformation
OrphaCode: 97945
DisorderType: Category
Children: Name: Non-syndromic intestinal malformation
OrphaCode: 108967
DisorderType: Category
Children: Name: Rectal duplication
OrphaCode: 171220
DisorderType: Morphological anomaly
Name: Multiple intestinal atresia
OrphaCode: 2300
DisorderType: Morphological anomaly
Name: Congenital short bowel syndrome
OrphaCode: 2301
DisorderType: Morphological anomaly
Name: Small bowel atresia
OrphaCode: 1201
DisorderType: Morphological anomaly
Name: Colonic atresia
OrphaCode: 1198
DisorderType: Morphological anomaly
Name: Familial intestinal malrotation
OrphaCode: 508410
DisorderType: Morphological anomaly
Name: Small intestine duplication
OrphaCode: 662456
DisorderType: Morphological anomaly
Children: Name: Duodenal duplication
OrphaCode: 662473
DisorderType: Clinical subtype
Name: Jujeno-ileal duplication
OrphaCode: 662480
DisorderType: Clinical subtype
Name: Colonic duplication
OrphaCode: 662392
DisorderType: Morphological anomaly
Name: Duodenal atresia
OrphaCode: 1203
DisorderType: Morphological anomaly
Name: Syndromic intestinal malformation
OrphaCode: 108969
DisorderType: Category
Children: Name: Rare disorder with Hirschsprung disease as a major feature
OrphaCode: 557866
DisorderType: Category
Children: Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Marfanoid syndrome, De Silva type
OrphaCode: 2464
DisorderType: Malformation syndrome
Name: Thoraco-abdominal enteric duplication
OrphaCode: 1759
DisorderType: Malformation syndrome
Name: Umbilical cord ulceration-intestinal atresia syndrome
OrphaCode: 3405
DisorderType: Malformation syndrome
Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
OrphaCode: 293864
DisorderType: Malformation syndrome
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Combined immunodeficiency-enteropathy spectrum
OrphaCode: 436252
DisorderType: Disease
Name: Rare disorder potentially indicated for hematopoietic stem cell transplant
OrphaCode: 506219
DisorderType: Category
Children: Name: Myeloid hemopathy
OrphaCode: 171895
DisorderType: Category
Children: Name: Acute myeloid leukemia
OrphaCode: 519
DisorderType: Clinical group
Children: Name: Acute myeloid leukemia with recurrent genetic anomaly
OrphaCode: 98277
DisorderType: Category
Children: Name: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
OrphaCode: 98829
DisorderType: Disease
Name: Acute myeloid leukemia with 11q23 abnormalities
OrphaCode: 98831
DisorderType: Disease
Name: Acute myeloid leukemia with t(8;21)(q22;q22) translocation
OrphaCode: 102724
DisorderType: Disease
Name: Acute myeloid leukemia with CEBPA somatic mutations
OrphaCode: 319480
DisorderType: Disease
Name: Acute myeloid leukemia with t(9;11)(p22;q23)
OrphaCode: 402017
DisorderType: Disease
Name: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
OrphaCode: 402020
DisorderType: Disease
Name: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
OrphaCode: 370026
DisorderType: Disease
Name: Acute myeloid leukemia with NPM1 somatic mutations
OrphaCode: 402026
DisorderType: Disease
Name: Acute myeloid leukemia with t(6;9)(p23;q34)
OrphaCode: 402014
DisorderType: Disease
Name: Acute promyelocytic leukemia
OrphaCode: 520
DisorderType: Disease
Name: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
OrphaCode: 402023
DisorderType: Disease
Name: Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
OrphaCode: 585867
DisorderType: Disease
Name: Acute myeloid leukaemia with myelodysplasia-related features
OrphaCode: 86845
DisorderType: Disease
Name: Therapy related acute myeloid leukemia and myelodysplastic syndrome
OrphaCode: 86846
DisorderType: Category
Children: Name: Acute myeloid leukemia and myelodysplastic syndromes related to radiation
OrphaCode: 164726
DisorderType: Disease
Name: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
OrphaCode: 102379
DisorderType: Disease
Name: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
OrphaCode: 102381
DisorderType: Disease
Name: Unclassified acute myeloid leukemia
OrphaCode: 167714
DisorderType: Category
Children: Name: Acute megakaryoblastic leukemia
OrphaCode: 518
DisorderType: Disease
Children: Name: Acute megakaryoblastic leukemia in children without Down syndrome
OrphaCode: 329469
DisorderType: Clinical subtype
Name: Acute megakaryoblastic leukemia in adult
OrphaCode: 662934
DisorderType: Clinical subtype
Name: Acute megakaryoblastic leukemia in children with Down syndrome
OrphaCode: 99887
DisorderType: Clinical subtype
Name: Acute myelomonocytic leukemia
OrphaCode: 517
DisorderType: Disease
Name: Acute erythroid leukemia
OrphaCode: 318
DisorderType: Disease
Name: Acute monoblastic/monocytic leukemia
OrphaCode: 514
DisorderType: Disease
Name: Acute myeloid leukemia with minimal differentiation
OrphaCode: 98832
DisorderType: Disease
Name: Acute panmyelosis with myelofibrosis
OrphaCode: 86843
DisorderType: Disease
Name: Myeloid sarcoma
OrphaCode: 86850
DisorderType: Disease
Name: Acute myeloblastic leukemia without maturation
OrphaCode: 98833
DisorderType: Disease
Name: Acute myeloblastic leukemia with maturation
OrphaCode: 98834
DisorderType: Disease
Name: Acute basophilic leukemia
OrphaCode: 86849
DisorderType: Disease
Name: Inherited acute myeloid leukemia
OrphaCode: 319465
DisorderType: Disease
Name: Acute leukemia of ambiguous lineage
OrphaCode: 86851
DisorderType: Category
Children: Name: Acute undifferentiated leukemia
OrphaCode: 98835
DisorderType: Disease
Name: Mixed phenotype acute leukemia
OrphaCode: 530995
DisorderType: Disease
Children: Name: Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
OrphaCode: 589534
DisorderType: Etiological subtype
Name: Mixed phenotype acute leukemia with t(v;11q23.3)
OrphaCode: 589595
DisorderType: Etiological subtype
Name: Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
OrphaCode: 168943
DisorderType: Category
Children: Name: Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
OrphaCode: 168950
DisorderType: Disease
Name: Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
OrphaCode: 589542
DisorderType: Disease
Name: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
OrphaCode: 168947
DisorderType: Disease
Name: Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
OrphaCode: 168953
DisorderType: Disease
Name: Myelodysplastic syndrome
OrphaCode: 52688
DisorderType: Clinical group
Children: Name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
OrphaCode: 86841
DisorderType: Disease
Name: Familial monosomy 7 syndrome
OrphaCode: 495930
DisorderType: Disease
Name: Myelodysplastic neoplasm with increased blasts
OrphaCode: 86839
DisorderType: Disease
Children: Name: Myelodysplastic neoplasm with increased blasts type 2
OrphaCode: 100020
DisorderType: Clinical subtype
Name: Myelodysplastic neoplasm with increased blasts type 1
OrphaCode: 100019
DisorderType: Clinical subtype
Name: Refractory anemia with excess blasts in transformation
OrphaCode: 168960
DisorderType: Disease
Name: Refractory cytopenia with multilineage dysplasia
OrphaCode: 86836
DisorderType: Clinical group
Children: Name: Unclassified myelodysplastic syndrome
OrphaCode: 98827
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Myelodysplastic neoplasm with low blasts
OrphaCode: 98826
DisorderType: Disease
Name: Acquired idiopathic sideroblastic anemia
OrphaCode: 75564
DisorderType: Disease
Name: Myeloproliferative neoplasm
OrphaCode: 98274
DisorderType: Clinical group
Children: Name: Hypereosinophilic syndrome
OrphaCode: 168956
DisorderType: Clinical group
Children: Name: Secondary hypereosinophilic syndrome
OrphaCode: 314962
DisorderType: Disease
Children: Name: Lymphocytic hypereosinophilic syndrome
OrphaCode: 314970
DisorderType: Clinical subtype
Name: Idiopathic hypereosinophilic syndrome
OrphaCode: 3260
DisorderType: Disease
Name: Primary hypereosinophilic syndrome
OrphaCode: 314950
DisorderType: Disease
Name: Chronic myeloid leukemia
OrphaCode: 521
DisorderType: Disease
Name: Primary myelofibrosis
OrphaCode: 824
DisorderType: Disease
Name: Essential thrombocythemia
OrphaCode: 3318
DisorderType: Disease
Name: Chronic myeloproliferative disease, unclassifiable
OrphaCode: 86830
DisorderType: Disease
Name: Hereditary thrombocytopenia with early-onset myelofibrosis
OrphaCode: 480851
DisorderType: Disease
Name: Chronic eosinophilic leukemia
OrphaCode: 168940
DisorderType: Disease
Name: Transient myeloproliferative syndrome
OrphaCode: 420611
DisorderType: Disease
Name: Polycythemia vera
OrphaCode: 729
DisorderType: Disease
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Chronic neutrophilic leukemia
OrphaCode: 86829
DisorderType: Disease
Name: 14q32 duplication syndrome
OrphaCode: 488280
DisorderType: Disease
Name: Myelodysplastic/myeloproliferative disease
OrphaCode: 98275
DisorderType: Clinical group
Children: Name: Atypical chronic myeloid leukemia
OrphaCode: 98824
DisorderType: Disease
Name: Unclassified myelodysplastic/myeloproliferative disease
OrphaCode: 98825
DisorderType: Disease
Name: Chronic myelomonocytic leukemia
OrphaCode: 98823
DisorderType: Disease
Name: Juvenile myelomonocytic leukemia
OrphaCode: 86834
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Primary hemophagocytic lymphohistiocytosis
OrphaCode: 158038
DisorderType: Clinical group
Children: Name: Primary hemophagocytic lymphohistiocytosis without hypopigmentation
OrphaCode: 664482
DisorderType: Category
Children: Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Lysinuric protein intolerance
OrphaCode: 470
DisorderType: Disease
Name: NOCARH syndrome
OrphaCode: 619363
DisorderType: Disease
Name: Primary hemophagocytic lymphohistiocytosis with hypopigmentation
OrphaCode: 331249
DisorderType: Category
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Congenital neutropenia
OrphaCode: 101987
DisorderType: Category
Children: Name: Syndrome with congenital neutropenia as a major feature
OrphaCode: 331184
DisorderType: Category
Children: Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Severe congenital neutropenia due to JAGN1 deficiency
OrphaCode: 423384
DisorderType: Disease
Name: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
OrphaCode: 675767
DisorderType: Disease
Name: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
OrphaCode: 675628
DisorderType: Disease
Name: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
OrphaCode: 369852
DisorderType: Disease
Name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
OrphaCode: 79259
DisorderType: Clinical subtype
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Poikiloderma with neutropenia
OrphaCode: 221046
DisorderType: Disease
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Lichtenstein syndrome
OrphaCode: 2390
DisorderType: Disease
Name: Severe congenital neutropenia due to G6PC3 deficiency
OrphaCode: 331176
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Recurrent infections due to specific granule deficiency
OrphaCode: 169142
DisorderType: Disease
Name: Neutropenia-monocytopenia-deafness syndrome
OrphaCode: 2690
DisorderType: Disease
Name: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
OrphaCode: 90023
DisorderType: Disease
Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Severe congenital neutropenia
OrphaCode: 42738
DisorderType: Clinical group
Children: Name: X-linked severe congenital neutropenia
OrphaCode: 86788
DisorderType: Disease
Name: Autosomal dominant severe congenital neutropenia
OrphaCode: 486
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia
OrphaCode: 439849
DisorderType: Category
Children: Name: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
OrphaCode: 420702
DisorderType: Disease
Name: Kostmann syndrome
OrphaCode: 99749
DisorderType: Disease
Name: Severe congenital neutropenia due to G6PC3 deficiency
OrphaCode: 331176
DisorderType: Disease
Name: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
OrphaCode: 420699
DisorderType: Disease
Name: Severe congenital neutropenia due to JAGN1 deficiency
OrphaCode: 423384
DisorderType: Disease
Name: Cyclic neutropenia
OrphaCode: 2686
DisorderType: Disease
Name: Combined immunodeficiency due to CRAC channel dysfunction
OrphaCode: 169090
DisorderType: Disease
Children: Name: Combined immunodeficiency due to STIM1 deficiency
OrphaCode: 317430
DisorderType: Clinical subtype
Name: Combined immunodeficiency due to ORAI1 deficiency
OrphaCode: 317428
DisorderType: Clinical subtype
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Combined immunodeficiency-enteropathy spectrum
OrphaCode: 436252
DisorderType: Disease
Name: DNA repair defect other than combined T-cell and B-cell immunodeficiencies
OrphaCode: 169346
DisorderType: Category
Children: Name: Combined immunodeficiency due to GINS1 deficiency
OrphaCode: 505227
DisorderType: Disease
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: ICF syndrome
OrphaCode: 2268
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
OrphaCode: 75391
DisorderType: Disease
Name: Immunodeficiency syndrome with autoimmunity
OrphaCode: 169355
DisorderType: Category
Children: Name: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
OrphaCode: 619948
DisorderType: Disease
Name: Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
OrphaCode: 658946
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
OrphaCode: 444463
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: Immunodeficiency due to CD25 deficiency
OrphaCode: 169100
DisorderType: Disease
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
OrphaCode: 275517
DisorderType: Disease
Name: Dianzani autoimmune lymphoproliferative disease
OrphaCode: 275523
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
OrphaCode: 436159
DisorderType: Disease
Name: STAT3-related early-onset multisystem autoimmune disease
OrphaCode: 438159
DisorderType: Disease
Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: FADD-related immunodeficiency
OrphaCode: 306550
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OrphaCode: 331240
DisorderType: Category
Children: Name: Hyper-IgM syndrome without susceptibility to opportunistic infections
OrphaCode: 183666
DisorderType: Disease
Children: Name: Hyper-IgM syndrome type 5
OrphaCode: 101092
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 4
OrphaCode: 101091
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 2
OrphaCode: 101089
DisorderType: Clinical subtype
Name: Constitutional mismatch repair deficiency syndrome
OrphaCode: 252202
DisorderType: Disease
Name: Non-severe combined immunodeficiency
OrphaCode: 480549
DisorderType: Category
Children: Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Combined immunodeficiency due to OX40 deficiency
OrphaCode: 431149
DisorderType: Disease
Name: T-cell immunodeficiency with epidermodysplasia verruciformis
OrphaCode: 324294
DisorderType: Disease
Name: Omenn syndrome
OrphaCode: 39041
DisorderType: Disease
Name: Combined immunodeficiency with granulomatosis
OrphaCode: 157949
DisorderType: Disease
Name: Susceptibility to respiratory infections associated with CD8alpha chain mutation
OrphaCode: 169085
DisorderType: Disease
Name: XMEN
OrphaCode: 317476
DisorderType: Disease
Name: Combined immunodeficiency due to DOCK2 deficiency
OrphaCode: 447737
DisorderType: Disease
Name: BENTA disease
OrphaCode: 464336
DisorderType: Disease
Name: NIK deficiency
OrphaCode: 447731
DisorderType: Disease
Name: Idiopathic CD4 lymphocytopenia
OrphaCode: 228000
DisorderType: Biological anomaly
Name: Combined immunodeficiency due to MALT1 deficiency
OrphaCode: 397964
DisorderType: Disease
Name: Purine nucleoside phosphorylase deficiency
OrphaCode: 760
DisorderType: Disease
Name: Immunodeficiency by defective expression of MHC class II
OrphaCode: 572
DisorderType: Disease
Name: X-linked combined immunodeficiency due to SASH3 deficiency
OrphaCode: 653751
DisorderType: Disease
Name: Combined immunodeficiency due to FOXN1 haploinsufficiency
OrphaCode: 676039
DisorderType: Disease
Name: Combined immunodeficiency due to FCHO1 deficiency
OrphaCode: 647804
DisorderType: Disease
Name: Combined immunodeficiency due to CD27 deficiency
OrphaCode: 238505
DisorderType: Disease
Name: Combined immunodeficiency due to CD3gamma deficiency
OrphaCode: 169082
DisorderType: Disease
Name: Combined immunodeficiency due to TFRC deficiency
OrphaCode: 476113
DisorderType: Disease
Name: Combined immunodeficiency due to DOCK8 deficiency
OrphaCode: 217390
DisorderType: Disease
Name: Combined immunodeficiency due to IL21R deficiency
OrphaCode: 357329
DisorderType: Disease
Name: Immunodeficiency by defective expression of MHC class I
OrphaCode: 34592
DisorderType: Disease
Name: Cernunnos-XLF deficiency
OrphaCode: 169079
DisorderType: Disease
Name: Hyper-IgM syndrome with susceptibility to opportunistic infections
OrphaCode: 183663
DisorderType: Disease
Children: Name: X-linked hyper-IgM syndrome
OrphaCode: 101088
DisorderType: Clinical subtype
Name: Hyper-IgM syndrome type 3
OrphaCode: 101090
DisorderType: Clinical subtype
Name: Combined immunodeficiency due to Moesin deficiency
OrphaCode: 504530
DisorderType: Disease
Name: Combined immunodeficiency due to CD70 deficiency
OrphaCode: 538958
DisorderType: Disease
Name: Combined immunodeficiency due to ZAP70 deficiency
OrphaCode: 911
DisorderType: Disease
Name: Combined immunodeficiency due to partial RAG1 deficiency
OrphaCode: 231154
DisorderType: Disease
Name: TCR-alpha-beta-positive T-cell deficiency
OrphaCode: 397959
DisorderType: Disease
Name: IL21-related infantile inflammatory bowel disease
OrphaCode: 477661
DisorderType: Disease
Name: Combined immunodeficiency due to CARMIL2 deficiency
OrphaCode: 542301
DisorderType: Disease
Name: Combined immunodeficiency due to ITK deficiency
OrphaCode: 538963
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Combined immunodeficiency due to STK4 deficiency
OrphaCode: 314689
DisorderType: Disease
Name: Combined immunodeficiency due to RELA haploinsufficiency
OrphaCode: 596759
DisorderType: Disease
Name: Severe combined immunodeficiency
OrphaCode: 183660
DisorderType: Clinical group
Children: Name: T-B- severe combined immunodeficiency
OrphaCode: 317419
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to LCK deficiency
OrphaCode: 280142
DisorderType: Disease
Name: Severe combined immunodeficiency due to DCLRE1C deficiency
OrphaCode: 275
DisorderType: Disease
Name: Reticular dysgenesis
OrphaCode: 33355
DisorderType: Disease
Name: Short-limb skeletal dysplasia with severe combined immunodeficiency
OrphaCode: 935
DisorderType: Disease
Name: Severe combined immunodeficiency due to DNA-PKcs deficiency
OrphaCode: 317425
DisorderType: Disease
Name: Severe combined immunodeficiency due to adenosine deaminase deficiency
OrphaCode: 277
DisorderType: Disease
Name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
OrphaCode: 331206
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency
OrphaCode: 317416
DisorderType: Clinical group
Children: Name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
OrphaCode: 276
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
OrphaCode: 169160
DisorderType: Disease
Name: Severe combined immunodeficiency due to CORO1A deficiency
OrphaCode: 228003
DisorderType: Disease
Name: Severe combined immunodeficiency due to LAT deficiency
OrphaCode: 504523
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
OrphaCode: 35078
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
OrphaCode: 169154
DisorderType: Disease
Name: Severe combined immunodeficiency due to FOXN1 deficiency
OrphaCode: 169095
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: T-B+ severe combined immunodeficiency due to CD45 deficiency
OrphaCode: 169157
DisorderType: Disease
Name: T+ B+ severe combined immunodeficiency
OrphaCode: 397802
DisorderType: Clinical group
Children: Name: Severe combined immunodeficiency due to IKK2 deficiency
OrphaCode: 397787
DisorderType: Disease
Name: Severe combined immunodeficiency due to CTPS1 deficiency
OrphaCode: 420573
DisorderType: Disease
Name: Combined immunodeficiency due to CARD11 deficiency
OrphaCode: 357237
DisorderType: Disease
Name: Wiskott-Aldrich syndrome
OrphaCode: 906
DisorderType: Disease
Name: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
OrphaCode: 437552
DisorderType: Disease
Name: Disorder of peroxisomal alpha-, beta- and omega-oxidation
OrphaCode: 309810
DisorderType: Category
Children: Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Glutaric acidemia type 3
OrphaCode: 35706
DisorderType: Disease
Name: Acatalasemia
OrphaCode: 926
DisorderType: Disease
Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Peroxisomal beta-oxidation disorder
OrphaCode: 79188
DisorderType: Category
Children: Name: Peroxisomal acyl-CoA oxidase deficiency
OrphaCode: 2971
DisorderType: Disease
Name: Bifunctional enzyme deficiency
OrphaCode: 300
DisorderType: Disease
Name: Leukoencephalopathy-dystonia-motor neuropathy syndrome
OrphaCode: 163684
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Rare aplastic anemia
OrphaCode: 182040
DisorderType: Category
Children: Name: Rare acquired aplastic anemia
OrphaCode: 164823
DisorderType: Category
Children: Name: Primary myelofibrosis
OrphaCode: 824
DisorderType: Disease
Name: Idiopathic aplastic anemia
OrphaCode: 88
DisorderType: Disease
Name: Primary acquired red cell aplasia
OrphaCode: 98421
DisorderType: Clinical group
Children: Name: Primary acquired pure red cell aplasia
OrphaCode: 98872
DisorderType: Disease
Name: Transient erythroblastopenia of childhood
OrphaCode: 98871
DisorderType: Disease
Name: Paroxysmal nocturnal hemoglobinuria
OrphaCode: 447
DisorderType: Disease
Name: Rare constitutional aplastic anemia
OrphaCode: 68383
DisorderType: Category
Children: Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Revesz syndrome
OrphaCode: 3088
DisorderType: Malformation syndrome
Name: Hereditary isolated aplastic anemia
OrphaCode: 397692
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Congenital amegakaryocytic thrombocytopenia
OrphaCode: 3319
DisorderType: Disease
Name: Autosomal dominant aplasia and myelodysplasia
OrphaCode: 314399
DisorderType: Disease
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Pancytopenia-developmental delay syndrome
OrphaCode: 401764
DisorderType: Disease
Name: Aplastic anemia-intellectual disability-dwarfism syndrome
OrphaCode: 611216
DisorderType: Disease
Name: Lymphoid hemopathy
OrphaCode: 171898
DisorderType: Category
Children: Name: Persistent polyclonal B-cell lymphocytosis
OrphaCode: 300324
DisorderType: Disease
Name: Plasma cell tumor
OrphaCode: 98282
DisorderType: Category
Children: Name: POEMS syndrome
OrphaCode: 2905
DisorderType: Disease
Name: Multiple myeloma
OrphaCode: 29073
DisorderType: Disease
Name: Non-amyloid monoclonal immunoglobulin deposition disease
OrphaCode: 86861
DisorderType: Disease
Children: Name: Heavy chain deposition disease
OrphaCode: 93556
DisorderType: Clinical subtype
Name: Light and heavy chain deposition disease
OrphaCode: 93557
DisorderType: Clinical subtype
Name: Light chain deposition disease
OrphaCode: 93558
DisorderType: Clinical subtype
Name: AL amyloidosis
OrphaCode: 85443
DisorderType: Disease
Name: Plasmacytoma
OrphaCode: 86855
DisorderType: Disease
Children: Name: Primary plasmacytoma of the bone
OrphaCode: 100021
DisorderType: Clinical subtype
Name: Extramedullary soft tissue plasmacytoma
OrphaCode: 100022
DisorderType: Clinical subtype
Name: Heavy chain disease
OrphaCode: 86864
DisorderType: Disease
Children: Name: Alpha-heavy chain disease
OrphaCode: 100025
DisorderType: Clinical subtype
Name: Mu-heavy chain disease
OrphaCode: 100024
DisorderType: Clinical subtype
Name: Gamma-heavy chain disease
OrphaCode: 100026
DisorderType: Clinical subtype
Name: Plasma cell leukemia
OrphaCode: 454714
DisorderType: Disease
Name: Castleman disease
OrphaCode: 160
DisorderType: Disease
Children: Name: Unicentric Castleman disease
OrphaCode: 93685
DisorderType: Clinical subtype
Name: HHV-8-associated multicentric Castleman disease
OrphaCode: 570438
DisorderType: Clinical subtype
Name: Idiopathic multicentric Castleman disease
OrphaCode: 570431
DisorderType: Clinical subtype
Name: Lymphoma
OrphaCode: 223735
DisorderType: Category
Children: Name: Composite lymphoma
OrphaCode: 168966
DisorderType: Disease
Name: Non-Hodgkin lymphoma
OrphaCode: 547
DisorderType: Category
Children: Name: Acute lymphoblastic leukemia
OrphaCode: 513
DisorderType: Clinical group
Children: Name: Precursor B-cell acute lymphoblastic leukemia
OrphaCode: 99860
DisorderType: Disease
Children: Name: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
OrphaCode: 585877
DisorderType: Etiological subtype
Children: Name: B-lymphoblastic leukemia/lymphoma with t(17;19)
OrphaCode: 641375
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
OrphaCode: 585909
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
OrphaCode: 585918
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
OrphaCode: 585929
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
OrphaCode: 585936
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with hypodiploidy
OrphaCode: 585942
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
OrphaCode: 585948
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
OrphaCode: 585956
DisorderType: Etiological subtype
Name: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
OrphaCode: 641372
DisorderType: Etiological subtype
Name: Precursor T-cell acute lymphoblastic leukemia
OrphaCode: 99861
DisorderType: Disease
Name: B-cell non-Hodgkin lymphoma
OrphaCode: 171915
DisorderType: Category
Children: Name: Indolent B-cell non-Hodgkin lymphoma
OrphaCode: 300842
DisorderType: Category
Children: Name: Waldenström macroglobulinemia
OrphaCode: 33226
DisorderType: Disease
Name: Classic hairy cell leukemia
OrphaCode: 58017
DisorderType: Disease
Name: B-cell chronic lymphocytic leukemia
OrphaCode: 67038
DisorderType: Disease
Name: Indolent primary cutaneous B-cell lymphoma
OrphaCode: 178557
DisorderType: Clinical group
Children: Name: Primary cutaneous marginal zone B-cell lymphoma
OrphaCode: 178536
DisorderType: Disease
Name: Primary cutaneous follicle center lymphoma
OrphaCode: 178540
DisorderType: Disease
Name: Hairy cell leukemia variant
OrphaCode: 300878
DisorderType: Disease
Name: Marginal zone lymphoma
OrphaCode: 300912
DisorderType: Clinical group
Children: Name: MALT lymphoma
OrphaCode: 52417
DisorderType: Disease
Name: Splenic marginal zone lymphoma
OrphaCode: 86854
DisorderType: Disease
Name: Nodal marginal zone B-cell lymphoma
OrphaCode: 86867
DisorderType: Disease
Name: Splenic diffuse red pulp small B-cell lymphoma
OrphaCode: 300869
DisorderType: Disease
Name: Lymphoplasmacytic lymphoma without IgM production
OrphaCode: 443159
DisorderType: Disease
Name: Follicular lymphoma
OrphaCode: 545
DisorderType: Disease
Name: Aggressive B-cell non-Hodgkin lymphoma
OrphaCode: 300846
DisorderType: Category
Children: Name: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
OrphaCode: 480541
DisorderType: Disease
Name: Burkitt lymphoma
OrphaCode: 543
DisorderType: Disease
Name: Diffuse large B-cell lymphoma
OrphaCode: 544
DisorderType: Clinical group
Children: Name: Primary mediastinal large B-cell lymphoma
OrphaCode: 98838
DisorderType: Disease
Name: Intravascular large B-cell lymphoma
OrphaCode: 98839
DisorderType: Disease
Name: Lymphomatoid granulomatosis
OrphaCode: 86869
DisorderType: Disease
Name: Diffuse large B-cell lymphoma of the central nervous system
OrphaCode: 300849
DisorderType: Disease
Name: T-cell/histiocyte rich large B cell lymphoma
OrphaCode: 300857
DisorderType: Disease
Name: Diffuse large B-cell lymphoma with chronic inflammation
OrphaCode: 300888
DisorderType: Disease
Name: ALK-positive large B-cell lymphoma
OrphaCode: 364043
DisorderType: Disease
Name: Epstein-Barr virus-positive diffuse large B-cell lymphoma
OrphaCode: 289661
DisorderType: Disease
Name: Primary effusion lymphoma
OrphaCode: 48686
DisorderType: Disease
Name: Mantle cell lymphoma
OrphaCode: 52416
DisorderType: Disease
Name: B-cell prolymphocytic leukemia
OrphaCode: 86852
DisorderType: Disease
Name: Aggressive primary cutaneous B-cell lymphoma
OrphaCode: 178554
DisorderType: Clinical group
Children: Name: Primary cutaneous diffuse large B-cell lymphoma, leg type
OrphaCode: 178544
DisorderType: Disease
Name: Plasmablastic lymphoma
OrphaCode: 289666
DisorderType: Disease
Name: T-cell non-Hodgkin lymphoma
OrphaCode: 171918
DisorderType: Category
Children: Name: Enteropathy-associated T-cell lymphoma
OrphaCode: 86880
DisorderType: Disease
Name: Angioimmunoblastic T-cell lymphoma
OrphaCode: 86886
DisorderType: Disease
Name: Hepatosplenic T-cell lymphoma
OrphaCode: 86882
DisorderType: Disease
Name: Anaplastic large cell lymphoma
OrphaCode: 98841
DisorderType: Disease
Children: Name: ALK-negative anaplastic large cell lymphoma
OrphaCode: 300903
DisorderType: Histopathological subtype
Name: ALK-positive anaplastic large cell lymphoma
OrphaCode: 300895
DisorderType: Histopathological subtype
Name: Breast implant-associated anaplastic large cell lymphoma
OrphaCode: 667662
DisorderType: Disease
Name: Monomorphic epitheliotropic intestinal T-cell lymphoma
OrphaCode: 652658
DisorderType: Disease
Name: Blastic plasmacytoid dendritic cell neoplasm
OrphaCode: 86870
DisorderType: Disease
Name: T-cell prolymphocytic leukemia
OrphaCode: 86871
DisorderType: Disease
Name: Primary cutaneous T-cell lymphoma
OrphaCode: 171901
DisorderType: Category
Children: Name: Indolent primary cutaneous T-cell lymphoma
OrphaCode: 178548
DisorderType: Clinical group
Children: Name: Primary cutaneous CD30+ T-cell lymphoproliferative disease
OrphaCode: 541
DisorderType: Clinical group
Children: Name: Primary cutaneous anaplastic large cell lymphoma
OrphaCode: 300865
DisorderType: Disease
Name: Lymphomatoid papulosis
OrphaCode: 98842
DisorderType: Disease
Name: Subcutaneous panniculitis-like T-cell lymphoma
OrphaCode: 86884
DisorderType: Disease
Name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
OrphaCode: 178522
DisorderType: Disease
Name: Mycosis fungoides and variants
OrphaCode: 178566
DisorderType: Clinical group
Children: Name: Classic mycosis fungoides
OrphaCode: 2584
DisorderType: Disease
Name: Granulomatous slack skin
OrphaCode: 33111
DisorderType: Disease
Name: Folliculotropic mycosis fungoides
OrphaCode: 178512
DisorderType: Disease
Name: Localized pagetoid reticulosis
OrphaCode: 178517
DisorderType: Disease
Name: Aggressive primary cutaneous T-cell lymphoma
OrphaCode: 178551
DisorderType: Clinical group
Children: Name: Sézary syndrome
OrphaCode: 3162
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
OrphaCode: 86885
DisorderType: Disease
Name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
OrphaCode: 178528
DisorderType: Disease
Name: Primary cutaneous gamma/delta-positive T-cell lymphoma
OrphaCode: 178533
DisorderType: Disease
Name: Hydroa vacciniforme-like lymphoma
OrphaCode: 364039
DisorderType: Disease
Name: Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
OrphaCode: 364033
DisorderType: Disease
Name: Post-transplant lymphoproliferative disease
OrphaCode: 70568
DisorderType: Disease
Name: Large granular lymphocyte leukemia
OrphaCode: 512034
DisorderType: Clinical group
Children: Name: T-cell large granular lymphocyte leukemia
OrphaCode: 86872
DisorderType: Disease
Name: Aggressive NK-cell leukemia
OrphaCode: 86873
DisorderType: Disease
Name: Chronic lymphoproliferative disorder of natural killer cells
OrphaCode: 512017
DisorderType: Disease
Name: Nodal T-follicular helper cell lymphoma, follicular type
OrphaCode: 652650
DisorderType: Disease
Name: Hodgkin lymphoma
OrphaCode: 98293
DisorderType: Clinical group
Children: Name: Classic Hodgkin lymphoma
OrphaCode: 391
DisorderType: Disease
Children: Name: Classic Hodgkin lymphoma, lymphocyte-depleted type
OrphaCode: 98846
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, mixed cellularity type
OrphaCode: 98844
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, nodular sclerosis type
OrphaCode: 98843
DisorderType: Histopathological subtype
Name: Classic Hodgkin lymphoma, lymphocyte-rich type
OrphaCode: 98845
DisorderType: Histopathological subtype
Name: Nodular lymphocyte predominant Hodgkin lymphoma
OrphaCode: 86893
DisorderType: Disease
Name: Primary organ-specific lymphoma
OrphaCode: 279911
DisorderType: Category
Children: Name: Primary pulmonary lymphoma
OrphaCode: 2420
DisorderType: Disease
Name: Primary cutaneous lymphoma
OrphaCode: 542
DisorderType: Category
Children: Name: Primary cutaneous B-cell lymphoma
OrphaCode: 178563
DisorderType: Category
Children: Name: Aggressive primary cutaneous B-cell lymphoma
OrphaCode: 178554
DisorderType: Clinical group
Children: Name: Primary cutaneous diffuse large B-cell lymphoma, leg type
OrphaCode: 178544
DisorderType: Disease
Name: Indolent primary cutaneous B-cell lymphoma
OrphaCode: 178557
DisorderType: Clinical group
Children: Name: Primary cutaneous marginal zone B-cell lymphoma
OrphaCode: 178536
DisorderType: Disease
Name: Primary cutaneous follicle center lymphoma
OrphaCode: 178540
DisorderType: Disease
Name: Primary cutaneous T-cell lymphoma
OrphaCode: 171901
DisorderType: Category
Children: Name: Indolent primary cutaneous T-cell lymphoma
OrphaCode: 178548
DisorderType: Clinical group
Children: Name: Primary cutaneous CD30+ T-cell lymphoproliferative disease
OrphaCode: 541
DisorderType: Clinical group
Children: Name: Primary cutaneous anaplastic large cell lymphoma
OrphaCode: 300865
DisorderType: Disease
Name: Lymphomatoid papulosis
OrphaCode: 98842
DisorderType: Disease
Name: Subcutaneous panniculitis-like T-cell lymphoma
OrphaCode: 86884
DisorderType: Disease
Name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
OrphaCode: 178522
DisorderType: Disease
Name: Mycosis fungoides and variants
OrphaCode: 178566
DisorderType: Clinical group
Children: Name: Classic mycosis fungoides
OrphaCode: 2584
DisorderType: Disease
Name: Granulomatous slack skin
OrphaCode: 33111
DisorderType: Disease
Name: Folliculotropic mycosis fungoides
OrphaCode: 178512
DisorderType: Disease
Name: Localized pagetoid reticulosis
OrphaCode: 178517
DisorderType: Disease
Name: Aggressive primary cutaneous T-cell lymphoma
OrphaCode: 178551
DisorderType: Clinical group
Children: Name: Sézary syndrome
OrphaCode: 3162
DisorderType: Disease
Name: Adult T-cell leukemia/lymphoma
OrphaCode: 86875
DisorderType: Disease
Name: Extranodal nasal NK/T cell lymphoma
OrphaCode: 86879
DisorderType: Disease
Name: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
OrphaCode: 86885
DisorderType: Disease
Name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
OrphaCode: 178528
DisorderType: Disease
Name: Primary cutaneous gamma/delta-positive T-cell lymphoma
OrphaCode: 178533
DisorderType: Disease
Name: Primary oculocerebral lymphoma
OrphaCode: 279897
DisorderType: Disease
Name: Primary bone lymphoma
OrphaCode: 314684
DisorderType: Disease
Name: Primary lymphoma of the conjunctiva
OrphaCode: 319667
DisorderType: Disease
Name: Thyroid lymphoma
OrphaCode: 97285
DisorderType: Disease
Name: Primary intraocular lymphoma
OrphaCode: 279904
DisorderType: Disease
Name: Primary central nervous system lymphoma
OrphaCode: 46135
DisorderType: Disease
Name: RAS-associated autoimmune leukoproliferative disease
OrphaCode: 268114
DisorderType: Disease
Name: Immunodeficiency-associated lymphoproliferative disease
OrphaCode: 98290
DisorderType: Category
Children: Name: Post-transplant lymphoproliferative disease
OrphaCode: 70568
DisorderType: Disease
Name: Lymphoproliferative disease associated with primary immune disease
OrphaCode: 98291
DisorderType: Category
Name: Methotrexate-associated lymphoproliferative disorders
OrphaCode: 86904
DisorderType: Disease
Name: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
OrphaCode: 675628
DisorderType: Disease
Name: Autoimmune lymphoproliferative syndrome
OrphaCode: 3261
DisorderType: Disease
Name: Histiocytic and dendritic cell tumor
OrphaCode: 98287
DisorderType: Category
Children: Name: Macrophage or histiocytic tumor
OrphaCode: 98288
DisorderType: Category
Children: Name: Histiocytic sarcoma
OrphaCode: 86896
DisorderType: Disease
Name: Dendritic cell tumor
OrphaCode: 98289
DisorderType: Category
Children: Name: Dendritic cell sarcoma not otherwise specified
OrphaCode: 86903
DisorderType: Disease
Name: Interdigitating dendritic cell sarcoma
OrphaCode: 86900
DisorderType: Disease
Name: Indeterminate cell histiocytosis
OrphaCode: 158019
DisorderType: Disease
Name: Langerhans cell histiocytosis
OrphaCode: 389
DisorderType: Disease
Name: Langerhans cell sarcoma
OrphaCode: 86897
DisorderType: Disease
Name: Periodic fever-immunodeficiency-thrombocytopenia syndrome
OrphaCode: 652522
DisorderType: Disease
Name: Early-onset immune dysregulation due to DOCK11 complete deficiency
OrphaCode: 658951
DisorderType: Disease
Name: Multiple intestinal atresia
OrphaCode: 2300
DisorderType: Morphological anomaly
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Sphingolipidosis
OrphaCode: 79225
DisorderType: Category
Children: Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Gaucher disease
OrphaCode: 355
DisorderType: Disease
Children: Name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OrphaCode: 2072
DisorderType: Clinical subtype
Name: Fetal Gaucher disease
OrphaCode: 85212
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Atypical Gaucher disease due to saposin C deficiency
OrphaCode: 309252
DisorderType: Clinical subtype
Name: Lipid storage disease
OrphaCode: 79204
DisorderType: Category
Children: Name: Lysosomal acid lipase deficiency
OrphaCode: 275761
DisorderType: Disease
Children: Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Encephalopathy due to prosaposin deficiency
OrphaCode: 139406
DisorderType: Disease
Name: Gangliosidosis
OrphaCode: 309144
DisorderType: Category
Children: Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Hemoglobinopathy
OrphaCode: 68364
DisorderType: Category
Children: Name: Unstable hemoglobin disease
OrphaCode: 99139
DisorderType: Disease
Name: Hereditary methemoglobinemia
OrphaCode: 621
DisorderType: Disease
Name: Hemoglobin C disease
OrphaCode: 2132
DisorderType: Disease
Name: Hemoglobin D disease
OrphaCode: 90039
DisorderType: Disease
Name: Hemoglobinopathy Toms River
OrphaCode: 280615
DisorderType: Disease
Name: Beta-thalassemia and related diseases
OrphaCode: 275749
DisorderType: Category
Children: Name: Beta-thalassemia with other manifestations
OrphaCode: 231386
DisorderType: Category
Children: Name: Beta-thalassemia-X-linked thrombocytopenia syndrome
OrphaCode: 231393
DisorderType: Disease
Name: Beta-thalassemia associated with another hemoglobin anomaly
OrphaCode: 231230
DisorderType: Category
Children: Name: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
OrphaCode: 46532
DisorderType: Disease
Name: Delta-beta-thalassemia
OrphaCode: 231237
DisorderType: Disease
Name: Hemoglobin E-beta-thalassemia syndrome
OrphaCode: 231249
DisorderType: Disease
Name: Hemoglobin C-beta-thalassemia syndrome
OrphaCode: 231242
DisorderType: Disease
Name: Hemoglobin Lepore-beta-thalassemia syndrome
OrphaCode: 330032
DisorderType: Disease
Name: Beta-thalassemia
OrphaCode: 848
DisorderType: Disease
Children: Name: Dominant beta-thalassemia
OrphaCode: 231226
DisorderType: Clinical subtype
Name: Beta-thalassemia intermedia
OrphaCode: 231222
DisorderType: Clinical subtype
Name: Beta-thalassemia major
OrphaCode: 231214
DisorderType: Clinical subtype
Name: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
OrphaCode: 619233
DisorderType: Disease
Name: Acquired methemoglobinemia
OrphaCode: 464453
DisorderType: Disease
Name: Sickle cell disease and related diseases
OrphaCode: 275752
DisorderType: Category
Children: Name: Sickle cell disease associated with another hemoglobin anomaly
OrphaCode: 251355
DisorderType: Category
Children: Name: Sickle cell-hemoglobin E disease syndrome
OrphaCode: 251375
DisorderType: Disease
Name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
OrphaCode: 251380
DisorderType: Disease
Name: Sickle cell-hemoglobin C disease syndrome
OrphaCode: 251365
DisorderType: Disease
Name: Sickle cell-hemoglobin D disease syndrome
OrphaCode: 251370
DisorderType: Disease
Name: Sickle cell-beta-thalassemia disease syndrome
OrphaCode: 251359
DisorderType: Disease
Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Hemoglobin M disease
OrphaCode: 330041
DisorderType: Disease
Name: Alpha-thalassemia and related disorders
OrphaCode: 275745
DisorderType: Category
Children: Name: Alpha-thalassemia
OrphaCode: 846
DisorderType: Disease
Children: Name: Hemoglobin H disease
OrphaCode: 93616
DisorderType: Clinical subtype
Name: Hb Bart's hydrops fetalis
OrphaCode: 163596
DisorderType: Clinical subtype
Name: Syndrome with alpha-thalassemia as a major feature
OrphaCode: 232288
DisorderType: Category
Children: Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
OrphaCode: 98791
DisorderType: Malformation syndrome
Name: Alpha-thalassemia-myelodysplastic syndrome
OrphaCode: 231401
DisorderType: Disease
Name: Hemoglobin E disease
OrphaCode: 2133
DisorderType: Disease
Name: Osteopetrosis and related disorders
OrphaCode: 2781
DisorderType: Clinical group
Children: Name: Intermediate osteopetrosis
OrphaCode: 210110
DisorderType: Malformation syndrome
Name: Melorheostosis
OrphaCode: 2485
DisorderType: Malformation syndrome
Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Infantile osteopetrosis with neuroaxonal dysplasia
OrphaCode: 85179
DisorderType: Malformation syndrome
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Melorheostosis with osteopoikilosis
OrphaCode: 1879
DisorderType: Malformation syndrome
Name: Autosomal dominant osteopetrosis type 1
OrphaCode: 2783
DisorderType: Malformation syndrome
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Osteosclerotic metaphyseal dysplasia
OrphaCode: 500548
DisorderType: Malformation syndrome
Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Dysosteosclerosis
OrphaCode: 1782
DisorderType: Malformation syndrome
Name: Osteomesopyknosis
OrphaCode: 2777
DisorderType: Malformation syndrome
Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Isolated osteopoikilosis
OrphaCode: 166119
DisorderType: Disease
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Germ cell tumor
OrphaCode: 3399
DisorderType: Category
Children: Name: Extragonadal germ cell tumor
OrphaCode: 363579
DisorderType: Category
Children: Name: Extragonadal non-dysgerminomatous germ cell tumor
OrphaCode: 99913
DisorderType: Category
Children: Name: Mixed germ cell tumor
OrphaCode: 180234
DisorderType: Disease
Children: Name: Mixed germ cell tumor of central nervous system
OrphaCode: 252021
DisorderType: Clinical subtype
Name: Growing teratoma syndrome
OrphaCode: 314613
DisorderType: Particular clinical situation in a disease or syndrome
Name: Polyembryoma
OrphaCode: 180229
DisorderType: Disease
Name: Extragonadal teratoma
OrphaCode: 883
DisorderType: Disease
Children: Name: Nasopharyngeal teratoma
OrphaCode: 141107
DisorderType: Clinical subtype
Name: Sacrococcygeal teratoma
OrphaCode: 494421
DisorderType: Clinical subtype
Name: Epignathus
OrphaCode: 141077
DisorderType: Clinical subtype
Name: Teratoma of the central nervous system
OrphaCode: 252018
DisorderType: Clinical subtype
Name: Yolk sac tumor
OrphaCode: 876
DisorderType: Disease
Children: Name: Yolk sac tumor of central nervous system
OrphaCode: 252006
DisorderType: Clinical subtype
Name: Gestational choriocarcinoma
OrphaCode: 99926
DisorderType: Disease
Name: Embryonal carcinoma
OrphaCode: 180226
DisorderType: Disease
Children: Name: Embryonal carcinoma of the central nervous system
OrphaCode: 48736
DisorderType: Clinical subtype
Name: Non-central nervous system-localized embryonal carcinoma
OrphaCode: 289362
DisorderType: Clinical subtype
Name: Extragonadal germinoma
OrphaCode: 182127
DisorderType: Disease
Children: Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Primary germ cell tumor of central nervous system
OrphaCode: 251995
DisorderType: Category
Children: Name: Embryonal carcinoma of the central nervous system
OrphaCode: 48736
DisorderType: Clinical subtype
Name: Teratoma of the central nervous system
OrphaCode: 252018
DisorderType: Clinical subtype
Name: Mixed germ cell tumor of central nervous system
OrphaCode: 252021
DisorderType: Clinical subtype
Name: Choriocarcinoma of the central nervous system
OrphaCode: 252015
DisorderType: Disease
Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Yolk sac tumor of central nervous system
OrphaCode: 252006
DisorderType: Clinical subtype
Name: Gonadal germ cell tumor
OrphaCode: 363582
DisorderType: Category
Children: Name: Malignant germ cell tumor of ovary
OrphaCode: 35807
DisorderType: Category
Children: Name: Ovarian dysgerminoma
OrphaCode: 99912
DisorderType: Disease
Name: Malignant non-dysgerminomatous germ cell tumor of ovary
OrphaCode: 206538
DisorderType: Disease
Name: Primary non-gestational choriocarcinoma of ovary
OrphaCode: 289356
DisorderType: Disease
Name: Germ cell tumor of testis
OrphaCode: 363504
DisorderType: Category
Children: Name: Non-seminomatous germ cell tumor of testis
OrphaCode: 363494
DisorderType: Disease
Name: Testicular seminomatous germ cell tumor
OrphaCode: 842
DisorderType: Disease
Name: Spermatocytic seminoma
OrphaCode: 99865
DisorderType: Disease
Name: Osteosarcoma
OrphaCode: 668
DisorderType: Disease
Name: Extraskeletal Ewing sarcoma
OrphaCode: 370334
DisorderType: Disease
Name: Rare disorder potentially indicated for lung transplant
OrphaCode: 506222
DisorderType: Category
Children: Name: Cystic fibrosis
OrphaCode: 586
DisorderType: Disease
Name: Congenital pulmonary veins atresia or stenosis
OrphaCode: 3188
DisorderType: Clinical group
Children: Name: Congenital pulmonary vein atresia
OrphaCode: 99126
DisorderType: Morphological anomaly
Name: Primary pulmonary vein stenosis
OrphaCode: 642071
DisorderType: Disease
Name: Bronchiolitis obliterans
OrphaCode: 1303
DisorderType: Clinical group
Children: Name: Transplant-related bronchiolitis obliterans
OrphaCode: 658602
DisorderType: Disease
Name: Non-transplant-related bronchiolitis obliterans
OrphaCode: 658612
DisorderType: Disease
Name: Interstitial lung disease
OrphaCode: 182095
DisorderType: Category
Children: Name: Interstitial lung disease in childhood and adulthood
OrphaCode: 264757
DisorderType: Category
Children: Name: Secondary interstitial lung disease in childhood and adulthood
OrphaCode: 264944
DisorderType: Category
Children: Name: Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
OrphaCode: 264949
DisorderType: Category
Children: Name: Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
OrphaCode: 264968
DisorderType: Category
Children: Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
OrphaCode: 182104
DisorderType: Category
Children: Name: Mixed connective tissue disease
OrphaCode: 809
DisorderType: Disease
Name: Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
OrphaCode: 264973
DisorderType: Category
Children: Name: Cryoglobulinemic vasculitis
OrphaCode: 91138
DisorderType: Disease
Children: Name: Mixed cryoglobulinemia type III
OrphaCode: 93555
DisorderType: Etiological subtype
Name: Mixed cryoglobulinemia type II
OrphaCode: 93554
DisorderType: Etiological subtype
Name: Anti-neutrophil cytoplasmic antibody-associated vasculitis
OrphaCode: 156152
DisorderType: Clinical group
Children: Name: Eosinophilic granulomatosis with polyangiitis
OrphaCode: 183
DisorderType: Disease
Name: Microscopic polyangiitis
OrphaCode: 727
DisorderType: Disease
Name: Granulomatosis with polyangiitis
OrphaCode: 900
DisorderType: Disease
Name: Anti-glomerular basement membrane disease
OrphaCode: 375
DisorderType: Disease
Name: Exposure-related interstitial lung disease
OrphaCode: 264984
DisorderType: Category
Children: Name: Hypersensitivity pneumonitis
OrphaCode: 31740
DisorderType: Clinical group
Children: Name: Occupational allergic alveolitis
OrphaCode: 99909
DisorderType: Clinical group
Children: Name: Pigeon-breeder lung disease
OrphaCode: 99908
DisorderType: Disease
Name: Farmer's lung disease
OrphaCode: 99906
DisorderType: Disease
Name: House allergic alveolitis
OrphaCode: 99907
DisorderType: Disease
Name: Drug or radiation exposure-related interstitial lung disease
OrphaCode: 264978
DisorderType: Particular clinical situation in a disease or syndrome
Name: Secondary pulmonary alveolar proteinosis
OrphaCode: 420259
DisorderType: Disease
Name: Secondary pulmonary hemosiderosis
OrphaCode: 99930
DisorderType: Disease
Name: Heiner syndrome
OrphaCode: 99932
DisorderType: Disease
Name: Primary interstitial lung disease in childhood and adulthood
OrphaCode: 264762
DisorderType: Category
Children: Name: Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
OrphaCode: 264935
DisorderType: Category
Children: Name: Idiopathic eosinophilic pneumonia
OrphaCode: 182101
DisorderType: Clinical group
Children: Name: Idiopathic chronic eosinophilic pneumonia
OrphaCode: 2902
DisorderType: Disease
Name: Idiopathic acute eosinophilic pneumonia
OrphaCode: 724
DisorderType: Disease
Name: Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
OrphaCode: 264930
DisorderType: Category
Children: Name: Interstitial lung disease due to SP-C deficiency
OrphaCode: 440392
DisorderType: Disease
Name: Chronic respiratory distress with surfactant metabolism deficiency
OrphaCode: 217566
DisorderType: Disease
Name: Idiopathic pulmonary hemosiderosis
OrphaCode: 99931
DisorderType: Disease
Name: Interstitial lung disease specific to adulthood
OrphaCode: 264735
DisorderType: Category
Children: Name: Primary interstitial lung disease specific to adulthood
OrphaCode: 264740
DisorderType: Category
Children: Name: Birt-Hogg-Dubé syndrome
OrphaCode: 122
DisorderType: Malformation syndrome
Name: Lymphangioleiomyomatosis
OrphaCode: 538
DisorderType: Disease
Name: Autoimmune pulmonary alveolar proteinosis
OrphaCode: 747
DisorderType: Disease
Name: Pneumoconiosis
OrphaCode: 182098
DisorderType: Clinical group
Children: Name: Asbestos intoxication
OrphaCode: 2302
DisorderType: Disease
Name: Chronic beryllium disease
OrphaCode: 133
DisorderType: Disease
Name: Adult acute respiratory distress syndrome
OrphaCode: 70578
DisorderType: Disease
Name: Idiopathic interstitial pneumonia
OrphaCode: 98300
DisorderType: Clinical group
Children: Name: Idiopathic pulmonary fibrosis
OrphaCode: 2032
DisorderType: Disease
Name: Respiratory bronchiolitis-interstitial lung disease syndrome
OrphaCode: 79127
DisorderType: Disease
Name: Lymphoid interstitial pneumonia
OrphaCode: 79128
DisorderType: Disease
Name: Cryptogenic organizing pneumonia
OrphaCode: 1302
DisorderType: Disease
Name: Non-specific interstitial pneumonia
OrphaCode: 91364
DisorderType: Disease
Name: Desquamative interstitial pneumonia
OrphaCode: 98852
DisorderType: Disease
Name: Combined pulmonary fibrosis-emphysema syndrome
OrphaCode: 300564
DisorderType: Disease
Name: Acute interstitial pneumonia
OrphaCode: 79126
DisorderType: Disease
Name: Idiopathic pleuroparenchymal fibroelastosis
OrphaCode: 494428
DisorderType: Disease
Name: Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
OrphaCode: 210136
DisorderType: Disease
Name: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
OrphaCode: 221043
DisorderType: Disease
Name: Secondary interstitial lung disease specific to adulthood associated with a systemic disease
OrphaCode: 264745
DisorderType: Category
Children: Name: Antisynthetase syndrome
OrphaCode: 81
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Interstitial lung disease specific to childhood
OrphaCode: 264656
DisorderType: Category
Children: Name: Primary interstitial lung disease specific to childhood
OrphaCode: 264665
DisorderType: Category
Children: Name: Primary interstitial lung disease specific to childhood due to alveolar structure disorder
OrphaCode: 264670
DisorderType: Category
Children: Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Infant acute respiratory distress syndrome
OrphaCode: 70587
DisorderType: Disease
Name: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
OrphaCode: 100049
DisorderType: Category
Children: Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Interstitial lung disease due to ABCA3 deficiency
OrphaCode: 440402
DisorderType: Disease
Name: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
OrphaCode: 572428
DisorderType: Disease
Name: Neonatal acute respiratory distress due to SP-B deficiency
OrphaCode: 217563
DisorderType: Disease
Name: Hereditary pulmonary alveolar proteinosis
OrphaCode: 264675
DisorderType: Disease
Name: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
OrphaCode: 440427
DisorderType: Disease
Name: Interstitial lung disease specific to infancy
OrphaCode: 264694
DisorderType: Category
Children: Name: Pulmonary interstitial glycogenosis
OrphaCode: 217557
DisorderType: Disease
Name: Neuroendocrine cell hyperplasia of infancy
OrphaCode: 217560
DisorderType: Disease
Name: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
OrphaCode: 621758
DisorderType: Disease
Name: Chronic pneumonitis of infancy
OrphaCode: 91359
DisorderType: Disease
Name: Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
OrphaCode: 264683
DisorderType: Category
Children: Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: 16q24.1 microdeletion syndrome
OrphaCode: 352629
DisorderType: Disease
Name: Congenital alveolar capillary dysplasia
OrphaCode: 210122
DisorderType: Disease
Name: Congenital chylothorax
OrphaCode: 264688
DisorderType: Disease
Name: Congenital pulmonary lymphangiectasia
OrphaCode: 2414
DisorderType: Disease
Name: Isolated pulmonary capillaritis
OrphaCode: 264691
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: Secondary interstitial lung disease specific to childhood associated with a systemic disease
OrphaCode: 264699
DisorderType: Category
Children: Name: Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
OrphaCode: 264714
DisorderType: Category
Children: Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Secondary interstitial lung disease specific to childhood associated with a metabolic disease
OrphaCode: 264719
DisorderType: Category
Children: Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Acid sphingomyelinase deficiency
OrphaCode: 618899
DisorderType: Clinical group
Children: Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
OrphaCode: 264704
DisorderType: Category
Children: Name: Juvenile idiopathic arthritis
OrphaCode: 92
DisorderType: Clinical group
Children: Name: Unspecified juvenile idiopathic arthritis
OrphaCode: 91140
DisorderType: Disease
Name: Polyarticular juvenile idiopathic arthritis
OrphaCode: 404580
DisorderType: Clinical group
Children: Name: Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
OrphaCode: 85435
DisorderType: Disease
Name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
OrphaCode: 85408
DisorderType: Disease
Name: Enthesitis-related juvenile idiopathic arthritis
OrphaCode: 85438
DisorderType: Disease
Name: Systemic-onset juvenile idiopathic arthritis
OrphaCode: 85414
DisorderType: Disease
Name: Oligoarticular juvenile idiopathic arthritis
OrphaCode: 85410
DisorderType: Disease
Name: Psoriasis-related juvenile idiopathic arthritis
OrphaCode: 85436
DisorderType: Disease
Name: Juvenile polymyositis
OrphaCode: 93568
DisorderType: Disease
Name: Pediatric systemic lupus erythematosus
OrphaCode: 93552
DisorderType: Disease
Name: Juvenile dermatomyositis
OrphaCode: 93672
DisorderType: Disease
Name: SAMD9L-associated autoinflammatory syndrome
OrphaCode: 619367
DisorderType: Disease
Name: Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
OrphaCode: 264709
DisorderType: Category
Children: Name: Immunoglobulin A vasculitis
OrphaCode: 761
DisorderType: Disease
Name: Autoimmune interstitial lung disease-arthritis syndrome
OrphaCode: 444092
DisorderType: Disease
Name: Pulmonary arterial hypertension
OrphaCode: 182090
DisorderType: Category
Children: Name: Pulmonary arterial hypertension associated with another disease
OrphaCode: 275791
DisorderType: Category
Children: Name: Pulmonary arterial hypertension associated with connective tissue disease
OrphaCode: 275798
DisorderType: Clinical group
Name: Pulmonary arterial hypertension associated with congenital heart disease
OrphaCode: 275803
DisorderType: Clinical group
Children: Name: Eisenmenger syndrome
OrphaCode: 97214
DisorderType: Malformation syndrome
Name: Pulmonary arterial hypertension associated with portal hypertension
OrphaCode: 275813
DisorderType: Clinical group
Name: Pulmonary arterial hypertension associated with chronic hemolytic anemia
OrphaCode: 275828
DisorderType: Clinical group
Name: Pulmonary arterial hypertension associated with schistosomiasis
OrphaCode: 275823
DisorderType: Clinical group
Name: Pulmonary arterial hypertension associated with HIV infection
OrphaCode: 275808
DisorderType: Clinical group
Name: Drug- or toxin-induced pulmonary arterial hypertension
OrphaCode: 275786
DisorderType: Clinical group
Name: Idiopathic/heritable pulmonary arterial hypertension
OrphaCode: 422
DisorderType: Disease
Children: Name: Idiopathic pulmonary arterial hypertension
OrphaCode: 275766
DisorderType: Etiological subtype
Name: Heritable pulmonary arterial hypertension
OrphaCode: 275777
DisorderType: Etiological subtype
Name: Capillary malformation-arteriovenous malformation
OrphaCode: 137667
DisorderType: Malformation syndrome
Name: Recurrent hepatitis C virus induced liver disease in liver transplant recipients
OrphaCode: 90052
DisorderType: Particular clinical situation in a disease or syndrome
Name: Graft versus host disease
OrphaCode: 39812
DisorderType: Disease
Children: Name: Acute graft versus host disease
OrphaCode: 99920
DisorderType: Clinical subtype
Name: Chronic graft versus host disease
OrphaCode: 99921
DisorderType: Clinical subtype
Name: De novo thrombotic microangiopathy after kidney transplantation
OrphaCode: 244275
DisorderType: Particular clinical situation in a disease or syndrome