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- Rare disorder potentially indicated for transplant or complication after transplantation ORPHA:565779
- Complications after hematopoietic stem cell transplantation ORPHA:90053
- Complication after organ transplantation ORPHA:306644
- Hepatitis B reinfection following liver transplantation ORPHA:90073
- Posttransplant acute limbic encephalitis ORPHA:163921
- Invasive scopulariopsis infection ORPHA:633124
- Rare disorder potentially indicated for transplant ORPHA:506207
- Rare disorder potentially indicated for heart transplant ORPHA:506225
- Triglyceride deposit cardiomyovasculopathy ORPHA:692305
- Idiopathic triglyceride deposit cardiomyovasculopathy ORPHA:692296
- Primary triglyceride deposit cardiomyovasculopathy ORPHA:565612
- Inherited arrhythmogenic cardiomyopathy ORPHA:247
- Congenital disorder of glycosylation with dilated cardiomyopathy ORPHA:371176
- DK1-CDG ORPHA:91131
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- DPM3-CDG ORPHA:263494
- PGM1-CDG ORPHA:319646
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ORPHA:300751
- Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy ORPHA:217616
- Mitochondrial disease with dilated cardiomyopathy ORPHA:217613
- Leber plus disease ORPHA:99718
- Histiocytoid cardiomyopathy ORPHA:137675
- MELAS ORPHA:550
- MERRF ORPHA:551
- Barth syndrome ORPHA:111
- Kearns-Sayre syndrome ORPHA:480
- Neuromuscular disease with dilated cardiomyopathy ORPHA:217610
- Duchenne and Becker muscular dystrophy ORPHA:262
- Becker muscular dystrophy ORPHA:98895
- Duchenne muscular dystrophy ORPHA:98896
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA:206546
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 ORPHA:62
- Emery-Dreifuss muscular dystrophy ORPHA:261
- Autosomal dominant Emery-Dreifuss muscular dystrophy ORPHA:98853
- X-linked Emery-Dreifuss muscular dystrophy ORPHA:98863
- Autosomal recessive Emery-Dreifuss muscular dystrophy ORPHA:98855
- Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 ORPHA:119
- Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 ORPHA:353
- Desminopathy ORPHA:98909
- Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 ORPHA:219
- Early-onset myopathy with fatal cardiomyopathy ORPHA:289377
- Polyglucosan body myopathy type 1 ORPHA:397937
- Fukutin-related limb-girdle muscular dystrophy R13 ORPHA:206554
- Non-familial rare disease with dilated cardiomyopathy ORPHA:324767
- Peripartum cardiomyopathy ORPHA:563
- Syndrome associated with dilated cardiomyopathy ORPHA:217619
- Vici syndrome ORPHA:1493
- Kidney tubulopathy-dilated cardiomyopathy syndrome ORPHA:73224
- Heart-hand syndrome, Slovenian type ORPHA:168796
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome ORPHA:2229
- Microcephaly-cardiomyopathy syndrome ORPHA:2515
- Sensorineural deafness with dilated cardiomyopathy ORPHA:217622
- Isobutyryl-CoA dehydrogenase deficiency ORPHA:79159
- Erythrokeratodermia-cardiomyopathy syndrome ORPHA:476096
- Cardiomyopathy-cataract-hip spine disease syndrome ORPHA:1345
- 1p36 deletion syndrome ORPHA:1606
- Carvajal syndrome ORPHA:65282
- Alström syndrome ORPHA:64
- McLeod neuroacanthocytosis syndrome ORPHA:59306
- Dilated cardiomyopathy with ataxia ORPHA:66634
- Nathalie syndrome ORPHA:2663
- Rare hypertrophic cardiomyopathy ORPHA:217569
- Rare familial disorder with hypertrophic cardiomyopathy ORPHA:99739
- Lysosomal disease with hypertrophic cardiomyopathy ORPHA:217581
- Fucosidosis ORPHA:349
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Hurler-Scheie syndrome ORPHA:93476
- Beta-mannosidosis ORPHA:118
- Fabry disease ORPHA:324
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Hurler syndrome ORPHA:93473
- Glycogen storage disease with hypertrophic cardiomyopathy ORPHA:217572
- Danon disease ORPHA:34587
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency ORPHA:137625
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease ORPHA:439854
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Mitochondrial disease with hypertrophic cardiomyopathy ORPHA:217587
- Combined oxidative phosphorylation defect type 17 ORPHA:369913
- Combined oxidative phosphorylation defect type 23 ORPHA:444013
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency ORPHA:352563
- Mitochondrial DNA-related cardiomyopathy and hearing loss ORPHA:1349
- QRSL1-related combined oxidative phosphorylation defect ORPHA:570491
- MERRF ORPHA:551
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome ORPHA:1369
- Ocular anomalies-axonal neuropathy-developmental delay syndrome ORPHA:496790
- MELAS ORPHA:550
- Leber plus disease ORPHA:99718
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome ORPHA:319678
- Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ORPHA:314637
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation ORPHA:324525
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome ORPHA:457185
- Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy ORPHA:217591
- Mitochondrial trifunctional protein deficiency ORPHA:746
- Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793
- Acyl-CoA dehydrogenase 9 deficiency ORPHA:99901
- Carnitine-acylcarnitine translocase deficiency ORPHA:159
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5
- Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791
- Syndrome associated with hypertrophic cardiomyopathy ORPHA:217595
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Desminopathy ORPHA:98909
- Noonan syndrome ORPHA:648
- Noonan syndrome with multiple lentigines ORPHA:500
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia ORPHA:363972
- Cardiofaciocutaneous syndrome ORPHA:1340
- Friedreich ataxia ORPHA:95
- Noonan syndrome-like disorder with loose anagen hair ORPHA:2701
- Cardiomyopathy-hypotonia-lactic acidosis syndrome ORPHA:91130
- Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ORPHA:228012
- Costello syndrome ORPHA:3071
- Alpha-B crystallin-related late-onset myopathy ORPHA:399058
- Steinert myotonic dystrophy ORPHA:273
- Non-familial hypertrophic cardiomyopathy ORPHA:217598
- ATTRV122I amyloidosis ORPHA:85451
- Familial isolated restrictive cardiomyopathy ORPHA:75249
- Lysosomal disease with restrictive cardiomyopathy ORPHA:217638
- Hurler syndrome ORPHA:93473
- Glycogen storage disease due to acid maltase deficiency ORPHA:365
- Glycogen storage disease due to acid maltase deficiency, infantile onset ORPHA:308552
- Glycogen storage disease due to acid maltase deficiency, late-onset ORPHA:420429
- Fabry disease ORPHA:324
- Gaucher disease type 1 ORPHA:77259
- Familial isolated dilated cardiomyopathy ORPHA:154
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Endocardial fibroelastosis ORPHA:2022
- Rare disorder potentially indicated for liver transplant ORPHA:506210
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Hereditary ATTR amyloidosis ORPHA:271861
- Acute hepatic porphyria ORPHA:95157
- Hereditary coproporphyria ORPHA:79273
- Acute intermittent porphyria ORPHA:79276
- Variegate porphyria ORPHA:79473
- Porphyria due to ALA dehydratase deficiency ORPHA:100924
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome ORPHA:562639
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Alpha-1-antitrypsin deficiency ORPHA:60
- Autoimmune hepatitis ORPHA:2137
- Autoimmune hepatitis type 1 ORPHA:563576
- Autoimmune hepatitis type 2 ORPHA:563581
- Seronegative autoimmune hepatitis ORPHA:563589
- Isolated biliary atresia ORPHA:30391
- Biliary atresia with splenic malformation syndrome ORPHA:244283
- Budd-Chiari syndrome ORPHA:131
- Caroli disease ORPHA:53035
- Caroli syndrome ORPHA:480520
- Choledochal cyst ORPHA:480501
- Congenital anomaly of hepatic vein ORPHA:95507
- Congenital portosystemic shunt ORPHA:480531
- Crigler-Najjar syndrome ORPHA:205
- Cystic fibrosis ORPHA:586
- Familial intrahepatic cholestasis ORPHA:284385
- Benign recurrent intrahepatic cholestasis ORPHA:65682
- Benign recurrent intrahepatic cholestasis type 2 ORPHA:99961
- Benign recurrent intrahepatic cholestasis type 1 ORPHA:99960
- Progressive familial intrahepatic cholestasis ORPHA:172
- Progressive familial intrahepatic cholestasis type 4 ORPHA:480483
- MYO5B-related progressive familial intrahepatic cholestasis ORPHA:480491
- Progressive familial intrahepatic cholestasis type 2 ORPHA:79304
- Progressive familial intrahepatic cholestasis type 3 ORPHA:79305
- Progressive familial intrahepatic cholestasis type 1 ORPHA:79306
- Hereditary North American Indian childhood cirrhosis ORPHA:168583
- Progressive familial intrahepatic cholestasis type 5 ORPHA:480476
- Bile acid synthesis defect with cholestasis and malabsorption ORPHA:163631
- Fulminant viral hepatitis ORPHA:35063
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Hepatic veno-occlusive disease ORPHA:890
- Hereditary fructose intolerance ORPHA:469
- Idiopathic ductopenia ORPHA:480512
- Isolated congenital hepatic fibrosis ORPHA:485426
- Isolated polycystic liver disease ORPHA:2924
- Neonatal hemochromatosis ORPHA:446
- Nodular regenerative hyperplasia of the liver ORPHA:48372
- Rare hereditary hemochromatosis ORPHA:220489
- Symptomatic form of HFE-related hemochromatosis ORPHA:465508
- Non-HFE-related hemochromatosis ORPHA:648569
- HJV or HAMP-related hemochromatosis ORPHA:79230
- TFR2-related hemochromatosis ORPHA:225123
- SLC40A1-related hemochromatosis ORPHA:647834
- Digenic hemochromatosis ORPHA:648581
- Sclerosing cholangitis ORPHA:447771
- Primary sclerosing cholangitis ORPHA:171
- Neonatal ichthyosis-sclerosing cholangitis syndrome ORPHA:59303
- Isolated neonatal sclerosing cholangitis ORPHA:480556
- Secondary sclerosing cholangitis ORPHA:447774
- IgG4-related sclerosing cholangitis ORPHA:447764
- Tyrosinemia type 1 ORPHA:882
- Wilson disease ORPHA:905
- Classic galactosemia ORPHA:79239
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Langerhans cell histiocytosis ORPHA:389
- Pulmonary Langerhans cell histiocytosis ORPHA:687733
- Multisystem Langerhans cell histiocytosis ORPHA:687741
- Single-system multifocal Langerhans cell histiocytosis ORPHA:687738
- Unifocal Langerhans cell histiocytosis ORPHA:687730
- Macrophage activation syndrome ORPHA:158061
- Primary biliary cholangitis ORPHA:186
- Autosomal systemic lupus erythematosus ORPHA:300345
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633
- Carcinoma of gallbladder and extrahepatic biliary tract ORPHA:56044
- Cholangiocarcinoma ORPHA:70567
- Squamous cell carcinoma of gallbladder and extrahepatic biliary tract ORPHA:424996
- Perihilar cholangiocarcinoma ORPHA:99978
- Adenocarcinoma of the gallbladder and extrahepatic biliary tract ORPHA:424991
- Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852
- Gallbladder neuroendocrine tumor ORPHA:100086
- Rare tumor of liver and intrahepatic biliary tract ORPHA:306636
- Hepatic cystic hamartoma ORPHA:386
- Solitary necrotic nodule of the liver ORPHA:100035
- Undifferentiated embryonal sarcoma of the liver ORPHA:178315
- Hepatoblastoma ORPHA:449
- Hepatocellular adenoma ORPHA:54272
- Rare malignant epithelial tumor of liver and intrahepatic biliary tract ORPHA:424933
- Carcinoma of liver and intrahepatic biliary tract ORPHA:424936
- Adenocarcinoma of the liver and intrahepatic biliary tract ORPHA:424943
- Squamous cell carcinoma of liver and intrahepatic biliary tract ORPHA:424975
- Biliary cystadenocarcinoma ORPHA:424982
- Cholangiocarcinoma ORPHA:70567
- Fibrolamellar hepatocellular carcinoma ORPHA:401920
- Undifferentiated carcinoma of liver and intrahepatic biliary tract ORPHA:424970
- Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852
- Hepatocellular carcinoma ORPHA:88673
- Primary hepatic neuroendocrine carcinoma ORPHA:100085
- Liver adenomatosis ORPHA:566841
- Acid sphingomyelinase deficiency ORPHA:618899
- Rare disorder potentially indicated for kidney transplant ORPHA:506213
- Bartter syndrome type 3 ORPHA:93605
- Apparent mineralocorticoid excess ORPHA:320
- Autosomal dominant progressive nephropathy with hypertension ORPHA:88659
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor ORPHA:88660
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis ORPHA:306516
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement ORPHA:2196
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement ORPHA:31043
- Primary hyperoxaluria ORPHA:416
- Primary hyperoxaluria type 3 ORPHA:93600
- Primary hyperoxaluria type 2 ORPHA:93599
- Primary hyperoxaluria type 1 ORPHA:93598
- Renal cell carcinoma ORPHA:217071
- Chromophobe renal cell carcinoma ORPHA:319303
- Acquired cystic disease-associated renal cell carcinoma ORPHA:404514
- Collecting duct carcinoma ORPHA:247203
- MiT family translocation renal cell carcinoma ORPHA:319308
- Renal medullary carcinoma ORPHA:319319
- Clear cell renal carcinoma ORPHA:319276
- Multilocular cystic renal neoplasm of low malignant potential ORPHA:319287
- Clear cell papillary renal cell carcinoma ORPHA:404511
- Mucinous tubular and spindle cell renal carcinoma ORPHA:319322
- Papillary renal cell carcinoma ORPHA:319298
- Tubulocystic renal cell carcinoma ORPHA:319325
- Fabry disease ORPHA:324
- Williams syndrome ORPHA:904
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Oculocerebrorenal syndrome of Lowe ORPHA:534
- Saldino-Mainzer syndrome ORPHA:140969
- Full NF2-related schwannomatosis ORPHA:637
- Neurofibromatosis type 1 ORPHA:636
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ORPHA:363700
- 17q11 microdeletion syndrome ORPHA:97685
- RHYNS syndrome ORPHA:140976
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Adenine phosphoribosyltransferase deficiency ORPHA:976
- Congenital mesoblastic nephroma ORPHA:2665
- Fanconi anemia ORPHA:84
- Liddle syndrome ORPHA:526
- Joubert syndrome with oculorenal defect ORPHA:2318
- Joubert syndrome with renal defect ORPHA:220497
- Karyomegalic interstitial nephritis ORPHA:401996
- LCAT deficiency ORPHA:650
- Multiloculated renal cyst ORPHA:97366
- Nephroblastoma ORPHA:654
- Nephronophthisis ORPHA:655
- Juvenile nephronophthisis ORPHA:93592
- Late-onset nephronophthisis ORPHA:93589
- Infantile nephronophthisis ORPHA:93591
- Familial hyperaldosteronism ORPHA:235936
- Familial hyperaldosteronism type III ORPHA:251274
- Familial hyperaldosteronism type IV ORPHA:642671
- Familial hyperaldosteronism type I ORPHA:403
- Familial hyperaldosteronism type II ORPHA:404
- Juvenile nephropathic cystinosis ORPHA:411634
- Infantile nephropathic cystinosis ORPHA:411629
- Tuberous sclerosis complex ORPHA:805
- Ventriculomegaly-cystic kidney disease ORPHA:443988
- Non-syndromic renal or urinary tract malformation ORPHA:93546
- Oligomeganephronia ORPHA:2260
- Multicystic dysplastic kidney ORPHA:1851
- Unilateral multicystic dysplastic kidney ORPHA:97363
- Bilateral multicystic dysplastic kidney ORPHA:97364
- Medullary sponge kidney ORPHA:1309
- Congenital megacalycosis ORPHA:93109
- Megacystis-megaureter syndrome ORPHA:238637
- Renal agenesis ORPHA:411709
- Exstrophy-epispadias complex ORPHA:322
- Renal dysplasia ORPHA:93108
- Familial vesicoureteral reflux ORPHA:289365
- Renal tubular dysgenesis ORPHA:3033
- Drug-related renal tubular dysgenesis ORPHA:97368
- Renal tubular dysgenesis of genetic origin ORPHA:97369
- Renal tubular dysgenesis due to twin-twin transfusion ORPHA:97367
- Duplication of urethra ORPHA:237
- Fetal lower urinary tract obstruction ORPHA:435365
- Prune belly syndrome ORPHA:2970
- Posterior urethral valve ORPHA:93110
- Anterior urethral valve ORPHA:435372
- Atresia of urethra ORPHA:105
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Renal hypoplasia ORPHA:93101
- Congenital urachal anomaly ORPHA:435743
- Patent urachus ORPHA:431341
- Urachal sinus ORPHA:431344
- Urachal diverticulum ORPHA:431347
- Urachal cyst ORPHA:488
- Non-syndromic supernumerary kidneys ORPHA:652528
- Syndromic renal or urinary tract malformation ORPHA:93547
- Radio-renal syndrome ORPHA:3015
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- Ellis Van Creveld syndrome ORPHA:289
- VACTERL/VATER association ORPHA:887
- Fraser syndrome ORPHA:2052
- Axial mesodermal dysplasia spectrum ORPHA:1834
- Hydrocephalus-blue sclerae-nephropathy syndrome ORPHA:2186
- Pallister-Hall syndrome ORPHA:672
- Orofaciodigital syndrome type 1 ORPHA:2750
- Renal caliceal diverticuli-deafness syndrome ORPHA:2838
- Schinzel-Giedion syndrome ORPHA:798
- BNAR syndrome ORPHA:217266
- CHARGE syndrome ORPHA:138
- Rubinstein-Taybi syndrome ORPHA:783
- Rubinstein-Taybi syndrome due to CREBBP mutations ORPHA:353277
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion ORPHA:353281
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ORPHA:353284
- BOR syndrome ORPHA:107
- Meckel syndrome ORPHA:564
- Faciocardiorenal syndrome ORPHA:1973
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ORPHA:1192
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Hajdu-Cheney syndrome ORPHA:955
- Acrorenal syndrome ORPHA:971
- Cystic hamartoma of lung and kidney ORPHA:2111
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Renal coloboma syndrome ORPHA:1475
- Multicentric carpo-tarsal osteolysis with or without nephropathy ORPHA:2774
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- Smith-Lemli-Opitz syndrome ORPHA:818
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome ORPHA:444069
- WAGR syndrome ORPHA:893
- Cat-eye syndrome ORPHA:195
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Caudal regression syndrome ORPHA:3027
- AREDYLD syndrome ORPHA:1133
- EEC syndrome ORPHA:1896
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome ORPHA:2237
- Neurofaciodigitorenal syndrome ORPHA:2673
- Urofacial syndrome ORPHA:2704
- Spastic paraplegia-nephritis-deafness syndrome ORPHA:2820
- Thomas syndrome ORPHA:3316
- Caudal duplication ORPHA:1756
- Trisomy 18 syndrome ORPHA:3380
- Aniridia-renal agenesis-psychomotor retardation syndrome ORPHA:1064
- Fibulo-ulnar hypoplasia-renal anomalies syndrome ORPHA:2256
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ORPHA:2278
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Ulbright-Hodes syndrome ORPHA:3404
- Tall stature-intellectual disability-renal anomalies syndrome ORPHA:500095
- Noonan syndrome ORPHA:648
- Thymic-renal-anal-lung dysplasia ORPHA:3326
- Renal nutcracker syndrome ORPHA:71273
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- 22q11.2 deletion syndrome ORPHA:567
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Thyrocerebrorenal syndrome ORPHA:3327
- 8q24.3 microdeletion syndrome ORPHA:508488
- Trisomy 13 syndrome ORPHA:3378
- Holoprosencephaly-radial heart renal anomalies syndrome ORPHA:3186
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Congenital vertebral-cardiac-renal anomalies syndrome ORPHA:521438
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- Menke-Hennekam syndrome ORPHA:592574
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- PBX1-related congenital anomalies of kidney-urinary tract syndrome ORPHA:656130
- Structural heart defects-renal anomalies syndrome ORPHA:689822
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Senior-Loken syndrome ORPHA:3156
- Distal renal tubular acidosis ORPHA:18
- Autosomal dominant distal renal tubular acidosis ORPHA:93608
- Distal renal tubular acidosis with anemia ORPHA:93610
- Autosomal recessive distal renal tubular acidosis ORPHA:402041
- Senior-Boichis syndrome ORPHA:84081
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome ORPHA:528105
- Hereditary renal hypouricemia ORPHA:94088
- Full schwannomatosis ORPHA:93921
- Autosomal dominant polycystic kidney disease ORPHA:730
- Pseudoxanthoma elasticum ORPHA:758
- Jeune syndrome ORPHA:474
- Primary Fanconi renotubular syndrome ORPHA:3337
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XX testicular difference of sex development ORPHA:393
- 46,XY complete gonadal dysgenesis ORPHA:242
- 46,XY difference of sex development due to impaired androgen production ORPHA:325357
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- 46,XY difference of sex development due to a testosterone synthesis defect ORPHA:90783
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to a cholesterol synthesis defect ORPHA:325511
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect ORPHA:443090
- 46,XY difference of sex development induced by maternal exposure to endocrine disruptors ORPHA:325537
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- 46,XY ovotesticular difference of sex development ORPHA:325345
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Non-syndromic urogenital tract malformation ORPHA:165704
- Non-syndromic urogenital tract malformation of female ORPHA:182117
- Non-syndromic uterovaginal malformation ORPHA:180065
- Müllerian aplasia ORPHA:73217
- Partial bilateral aplasia of the Müllerian ducts ORPHA:180068
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Unilateral aplasia of the Müllerian ducts ORPHA:180071
- Septate uterus ORPHA:180122
- Bicornuate uterus ORPHA:180134
- Didelphys uterus ORPHA:180086
- Bicervical bicornuate uterus and blind hemivagina ORPHA:180106
- Bicervical bicornuate uterus with patent cervix and vagina ORPHA:180111
- Unicervical bicornuate uterus ORPHA:180114
- Uterine hypoplasia ORPHA:180139
- Absence of uterine body ORPHA:180142
- Uterine cervical aplasia and agenesis ORPHA:180145
- Diethylstilbestrol syndrome ORPHA:1916
- Rare vaginal malformation ORPHA:180151
- Vaginal atresia ORPHA:65681
- Isolated partial vaginal agenesis ORPHA:96269
- Septate vagina ORPHA:180154
- Isolated female hypospadias ORPHA:603515
- Non-syndromic urogenital tract malformation of male ORPHA:182121
- Penile agenesis ORPHA:49
- Idiopathic isolated micropenis ORPHA:95707
- Congenital agenesis of the scrotum ORPHA:495879
- Non-syndromic posterior hypospadias ORPHA:95706
- Diphallia ORPHA:227
- Congenital bilateral absence of vas deferens ORPHA:48
- Penoscrotal transposition ORPHA:2842
- Non-syndromic urogenital tract malformation of male and female ORPHA:182124
- Congenital urachal anomaly ORPHA:435743
- Patent urachus ORPHA:431341
- Urachal sinus ORPHA:431344
- Urachal diverticulum ORPHA:431347
- Urachal cyst ORPHA:488
- Exstrophy-epispadias complex ORPHA:322
- Fetal lower urinary tract obstruction ORPHA:435365
- Prune belly syndrome ORPHA:2970
- Posterior urethral valve ORPHA:93110
- Anterior urethral valve ORPHA:435372
- Atresia of urethra ORPHA:105
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Familial vesicoureteral reflux ORPHA:289365
- Acquired monoclonal Ig light chain-associated Fanconi syndrome ORPHA:91136
- Adult familial nephronophthisis-spastic quadriparesia syndrome ORPHA:2666
- Alström syndrome ORPHA:64
- Enamel-renal syndrome ORPHA:1031
- Autosomal dominant tubulointerstitial kidney disease ORPHA:34149
- MUC1-related autosomal dominant tubulointerstitial kidney disease ORPHA:88949
- UMOD-related autosomal dominant tubulointerstitial kidney disease ORPHA:88950
- HNF1B-related autosomal dominant tubulointerstitial kidney disease ORPHA:93111
- REN-related autosomal dominant tubulointerstitial kidney disease ORPHA:217330
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis ORPHA:88924
- Autosomal recessive infantile hypercalcemia ORPHA:300547
- Autosomal recessive polycystic kidney disease ORPHA:731
- Bardet-Biedl syndrome ORPHA:110
- Bartter syndrome type 4 ORPHA:89938
- Cataract-nephropathy-encephalopathy syndrome ORPHA:1380
- Clear cell sarcoma of kidney ORPHA:457246
- Congenital renal artery stenosis ORPHA:97598
- Cranioectodermal dysplasia ORPHA:1515
- Cystinuria ORPHA:214
- Dent disease ORPHA:1652
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis ORPHA:244305
- Brachydactyly-arterial hypertension syndrome ORPHA:1276
- Pseudohypoaldosteronism type 2 ORPHA:757
- Pseudohypoaldosteronism type 2D ORPHA:300525
- Pseudohypoaldosteronism type 2E ORPHA:300530
- Pseudohypoaldosteronism type 2A ORPHA:88938
- Pseudohypoaldosteronism type 2B ORPHA:88939
- Pseudohypoaldosteronism type 2C ORPHA:88940
- Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome ORPHA:404476
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ORPHA:363694
- Hypotonia-cystinuria type 1 syndrome ORPHA:238517
- Hypotonia-cystinuria syndrome ORPHA:163690
- 2p21 microdeletion syndrome ORPHA:163693
- Atypical hypotonia-cystinuria syndrome ORPHA:238523
- Hypoxanthine-guanine phosphoribosyltransferase deficiency ORPHA:206428
- Lesch-Nyhan syndrome ORPHA:510
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency ORPHA:79233
- Idiopathic hypercalciuria ORPHA:2197
- Thrombotic thrombocytopenic purpura ORPHA:54057
- Immune-mediated thrombotic thrombocytopenic purpura ORPHA:93585
- Congenital thrombotic thrombocytopenic purpura ORPHA:93583
- Familial hyperthyroidism due to mutations in TSH receptor ORPHA:424
- Hemolytic uremic syndrome ORPHA:544458
- Infection-related hemolytic uremic syndrome ORPHA:544482
- Shiga toxin-associated hemolytic uremic syndrome ORPHA:90038
- Streptococcus pneumoniae-associated hemolytic uremic syndrome ORPHA:544493
- Atypical hemolytic uremic syndrome ORPHA:2134
- Atypical hemolytic uremic syndrome with anti-factor H antibodies ORPHA:93581
- Atypical hemolytic uremic syndrome with complement gene abnormality ORPHA:544472
- Hemolytic uremic syndrome with DGKE deficiency ORPHA:357008
- Methylmalonic acidemia with homocystinuria, type cblC ORPHA:79282
- Tyrosinemia type 1 ORPHA:882
- Vitamin B12-responsive methylmalonic acidemia ORPHA:28
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 ORPHA:308442
- Vitamin B12-responsive methylmalonic acidemia type cblA ORPHA:79310
- Vitamin B12-responsive methylmalonic acidemia type cblB ORPHA:79311
- Vitamin B12-unresponsive methylmalonic acidemia ORPHA:27
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 ORPHA:289916
- Vitamin B12-unresponsive methylmalonic acidemia type mut- ORPHA:79312
- Zellweger syndrome ORPHA:912
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome ORPHA:544628
- Glomerular disease ORPHA:93548
- Immunoglobulin A nephropathy ORPHA:34145
- Lipoprotein glomerulopathy ORPHA:329481
- Collagen-related glomerular basement membrane disease ORPHA:544590
- Alport syndrome ORPHA:63
- X-linked Alport syndrome-diffuse leiomyomatosis ORPHA:1018
- X-linked Alport syndrome ORPHA:88917
- Autosomal recessive Alport syndrome ORPHA:88919
- Digenic Alport syndrome ORPHA:653722
- Autosomal dominant Alport syndrome ORPHA:88918
- HANAC syndrome ORPHA:73229
- Systemic disease with glomerulopathy as a major feature ORPHA:567554
- Genetic systemic disease with glomerulopathy as a major feature ORPHA:567556
- Hereditary amyloidosis with primary renal involvement ORPHA:85450
- Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092
- Familial Mediterranean fever ORPHA:342
- Muckle-Wells syndrome ORPHA:575
- Hypocomplementemic urticarial vasculitis ORPHA:36412
- Non-genetic systemic disease with glomerulopathy as a major feature ORPHA:567558
- Polymyositis ORPHA:732
- Juvenile polymyositis ORPHA:93568
- Dermatomyositis ORPHA:221
- Amyopathic dermatomyositis ORPHA:645617
- Adermatopathic dermatomyositis ORPHA:645626
- Classical dermatomyositis ORPHA:645613
- Juvenile dermatomyositis ORPHA:93672
- Behçet disease ORPHA:117
- Sarcoidosis ORPHA:797
- Systemic sclerosis ORPHA:90291
- Limited cutaneous systemic sclerosis ORPHA:220402
- Limited systemic sclerosis ORPHA:220407
- Diffuse cutaneous systemic sclerosis ORPHA:220393
- AA amyloidosis ORPHA:85445
- IgG4-related kidney disease ORPHA:449395
- Mixed connective tissue disease ORPHA:809
- Adult-onset Still disease ORPHA:829
- Reynolds syndrome ORPHA:779
- AApoAIV amyloidosis ORPHA:439232
- AL amyloidosis ORPHA:85443
- AH amyloidosis ORPHA:442582
- Non-amyloid monoclonal immunoglobulin deposition disease ORPHA:86861
- Heavy chain deposition disease ORPHA:93556
- Light and heavy chain deposition disease ORPHA:93557
- Light chain deposition disease ORPHA:93558
- Systemic vasculitis associated with glomerulopathy ORPHA:567560
- Systemic lupus erythematosus ORPHA:536
- Eosinophilic granulomatosis with polyangiitis ORPHA:183
- Relapsing polychondritis ORPHA:728
- Giant cell arteritis ORPHA:397
- Microscopic polyangiitis ORPHA:727
- Immunoglobulin A vasculitis ORPHA:761
- Polyarteritis nodosa ORPHA:767
- Granulomatosis with polyangiitis ORPHA:900
- Takayasu arteritis ORPHA:3287
- Pauci-immune glomerulonephritis ORPHA:93126
- Pauci-immune glomerulonephritis without ANCA ORPHA:97564
- Pauci-immune glomerulonephritis with ANCA ORPHA:97563
- Anti-glomerular basement membrane disease ORPHA:375
- Cryoglobulinemic vasculitis ORPHA:91138
- Buerger disease ORPHA:36258
- Pediatric systemic lupus erythematosus ORPHA:93552
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome ORPHA:86818
- Nephrotic syndrome without extrarenal manifestations ORPHA:567564
- Genetic nephrotic syndrome ORPHA:564127
- Hereditary steroid-resistant nephrotic syndrome ORPHA:656
- Congenital nephrotic syndrome, Finnish type ORPHA:839
- Idiopathic nephrotic syndrome ORPHA:357502
- Idiopathic steroid-resistant nephrotic syndrome ORPHA:567548
- Idiopathic multidrug-resistant nephrotic syndrome ORPHA:567550
- Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy ORPHA:567552
- Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance ORPHA:567546
- Idiopathic steroid-sensitive nephrotic syndrome ORPHA:69061
- Idiopathic non-lupus full-house nephropathy ORPHA:567544
- Disorder with multisystemic involvement and glomerulopathy ORPHA:567562
- Nail-patella syndrome ORPHA:2614
- Schimke immuno-osseous dysplasia ORPHA:1830
- Galloway-Mowat syndrome ORPHA:2065
- Nail-patella-like renal disease ORPHA:2613
- Pierson syndrome ORPHA:2670
- Severe oculo-renal-cerebellar syndrome ORPHA:2715
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome ORPHA:300333
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization ORPHA:69063
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome ORPHA:69735
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ORPHA:93114
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness ORPHA:280406
- Familial steroid-resistant nephrotic syndrome with adrenal insufficiency ORPHA:506334
- Action myoclonus-renal failure syndrome ORPHA:163696
- MYH9-related syndromic thrombocytopenia ORPHA:182050
- Primary membranous glomerulonephritis ORPHA:97560
- Primary membranoproliferative glomerulonephritis ORPHA:54370
- Immunoglobulin-mediated membranoproliferative glomerulonephritis ORPHA:329903
- C3 glomerulopathy ORPHA:329918
- Fibronectin glomerulopathy ORPHA:84090
- Collagen type III glomerulopathy ORPHA:84087
- Immunotactoid or fibrillary glomerulopathy ORPHA:91137
- Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation ORPHA:620371
- Bartter syndrome type 1 ORPHA:620217
- Bartter syndrome type 2 ORPHA:620220
- Rare disorder potentially indicated for bowel transplant ORPHA:506216
- Chronic intestinal failure ORPHA:294422
- Congenital enteropathy involving intestinal mucosa development ORPHA:104007
- Microvillus inclusion disease ORPHA:2290
- Enteric anendocrinosis ORPHA:83620
- Congenital tufting enteropathy ORPHA:92050
- Congenital enterocyte heparan sulfate deficiency ORPHA:103910
- Congenital pancreatic cyst ORPHA:313906
- Cryptogenic multifocal ulcerous stenosing enteritis ORPHA:468635
- Intestinal polyposis syndrome ORPHA:104010
- Familial adenomatous polyposis ORPHA:733
- Familial adenomatous polyposis due to 5q22.2 microdeletion ORPHA:261584
- Gardner syndrome ORPHA:79665
- Turcot syndrome with polyposis ORPHA:99818
- Peutz-Jeghers syndrome ORPHA:2869
- Cowden syndrome ORPHA:201
- Juvenile polyposis syndrome ORPHA:2929
- Generalized juvenile polyposis/juvenile polyposis coli ORPHA:329971
- Juvenile polyposis of infancy ORPHA:79076
- Bannayan-Riley-Ruvalcaba syndrome ORPHA:109
- Cronkhite-Canada syndrome ORPHA:2930
- Hereditary mixed polyposis syndrome ORPHA:157794
- Serrated polyposis syndrome ORPHA:157798
- Attenuated familial adenomatous polyposis ORPHA:220460
- MUTYH-related attenuated familial adenomatous polyposis ORPHA:247798
- APC-related attenuated familial adenomatous polyposis ORPHA:247806
- Polymerase proofreading-related adenomatous polyposis ORPHA:447877
- NTHL1-related attenuated familial adenomatous polyposis ORPHA:454840
- MSH3-related attenuated familial adenomatous polyposis ORPHA:480536
- AXIN2-related attenuated familial adenomatous polyposis ORPHA:401911
- Rare disease involving intestinal motility ORPHA:104009
- Hirschsprung disease ORPHA:388
- Waardenburg-Shah syndrome ORPHA:897
- Oculogastrointestinal muscular dystrophy ORPHA:1876
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Megacystis-microcolon-intestinal hypoperistalsis syndrome ORPHA:2241
- Chronic intestinal pseudoobstruction syndrome ORPHA:2978
- Neuronal intestinal pseudoobstruction ORPHA:99811
- Myopathic intestinal pseudoobstruction ORPHA:104077
- Unclassified intestinal pseudoobstruction ORPHA:104078
- Hirschsprung disease-ganglioneuroblastoma syndrome ORPHA:2151
- Bardet-Biedl syndrome ORPHA:110
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Haddad syndrome ORPHA:99803
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity ORPHA:314373
- Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency ORPHA:314376
- Familial visceral myopathy ORPHA:2604
- Rare inflammatory bowel disease ORPHA:104012
- Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome ORPHA:566175
- Chronic granulomatous disease ORPHA:379
- Cutaneous photosensitivity-lethal colitis syndrome ORPHA:2881
- Undetermined colitis ORPHA:103920
- Cap polyposis ORPHA:160148
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- IL21-related infantile inflammatory bowel disease ORPHA:477661
- Immune dysregulation with inflammatory bowel disease ORPHA:529974
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569
- Inflammatory bowel disease-recurrent sinopulmonary infections syndrome ORPHA:529980
- X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency ORPHA:676125
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- Necrotizing enterocolitis ORPHA:391673
- X-linked lymphoproliferative disease due to XIAP deficiency ORPHA:538934
- TRIM22-related inflammatory bowel disease ORPHA:597201
- ALPI-related inflammatory bowel disease ORPHA:597887
- Rare tumor of intestine ORPHA:104011
- Rare tumor of small intestine ORPHA:423793
- Mesenchymal tumor of small intestine ORPHA:423798
- Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658
- Rare epithelial tumor of small intestine ORPHA:425368
- Neuroendocrine tumor of the small intestine ORPHA:423975
- Jejunal neuroendocrine tumor ORPHA:100077
- Ileal neuroendocrine tumor ORPHA:100078
- Duodenal neuroendocrine tumor ORPHA:100076
- Rare carcinoma of small intestine ORPHA:423957
- Enteropathy-associated T-cell lymphoma ORPHA:86880
- Epithelial tumor of the appendix ORPHA:423982
- Neuroendocrine neoplasm of appendix ORPHA:100079
- Mucinous adenocarcinoma of the appendix ORPHA:391723
- Rare epithelial tumor of colon ORPHA:423991
- Rare epithelial tumor of rectum ORPHA:423998
- Epithelial tumor of anal canal ORPHA:424010
- Short bowel syndrome ORPHA:104008
- Non-syndromic visceral malformation ORPHA:108971
- Familial isolated congenital asplenia ORPHA:101351
- Congenital respiratory-biliary fistula ORPHA:2040
- Situs inversus totalis ORPHA:101063
- Situs ambiguus ORPHA:157769
- Isolated splenogonadal fusion ORPHA:457083
- Caroli disease ORPHA:53035
- Partial pancreatic agenesis ORPHA:2805
- Annular pancreas ORPHA:675
- Accessory pancreas ORPHA:674
- Isolated biliary atresia ORPHA:30391
- Isolated gallbladder duplication ORPHA:662388
- Splenic venous malformation ORPHA:688523
- Primary malignant peritoneal tumor ORPHA:168807
- Pseudomyxoma peritonei ORPHA:26790
- Primary peritoneal carcinoma ORPHA:168829
- Desmoplastic small round cell tumor ORPHA:83469
- Malignant peritoneal mesothelioma ORPHA:168811
- Peritoneal mesothelioma in situ ORPHA:676036
- Congenital intestinal transport defect ORPHA:104003
- Hereditary fructose intolerance ORPHA:469
- Glucose-galactose malabsorption ORPHA:35710
- Congenital chloride diarrhea ORPHA:53689
- Congenital sodium diarrhea ORPHA:103908
- Syndromic congenital sodium diarrhea ORPHA:563708
- Intractable diarrhea of infancy ORPHA:73014
- Microvillus inclusion disease ORPHA:2290
- Congenital sodium diarrhea ORPHA:103908
- Syndromic congenital sodium diarrhea ORPHA:563708
- Congenital chronic diarrhea with protein-losing enteropathy ORPHA:329242
- Chronic diarrhea with villous atrophy ORPHA:1670
- Congenital tufting enteropathy ORPHA:92050
- Intractable diarrhea-choanal atresia-eye anomalies syndrome ORPHA:137622
- Primary autoimmune enteropathy ORPHA:522037
- Syndromic autoimmune enteropathy ORPHA:522043
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Laron syndrome with immunodeficiency ORPHA:220465
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Syndromic diarrhea ORPHA:84064
- Anorectal malformation ORPHA:96346
- Syndromic anorectal malformation ORPHA:117573
- Axial mesodermal dysplasia spectrum ORPHA:1834
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Ring chromosome 13 syndrome ORPHA:96176
- Townes-Brocks syndrome ORPHA:857
- Distal deletion 13q syndrome ORPHA:1590
- LUMBAR syndrome ORPHA:83628
- Cloacal exstrophy ORPHA:93929
- Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185
- BNAR syndrome ORPHA:217266
- 22q11.2 deletion syndrome ORPHA:567
- VACTERL with hydrocephalus ORPHA:3412
- Caudal regression-sirenomelia spectrum ORPHA:444941
- Kabuki syndrome ORPHA:2322
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- Opitz GBBB syndrome ORPHA:2745
- Down syndrome ORPHA:870
- Cat-eye syndrome ORPHA:195
- VACTERL/VATER association ORPHA:887
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Microphthalmia with linear skin defects syndrome ORPHA:2556
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- 6q terminal deletion syndrome ORPHA:75857
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Trisomy 13 syndrome ORPHA:3378
- Fraser syndrome ORPHA:2052
- Currarino syndrome ORPHA:1552
- Axenfeld-Rieger syndrome ORPHA:782
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- Isolated Klippel-Feil syndrome ORPHA:2345
- Trisomy 18 syndrome ORPHA:3380
- Pallister-Killian syndrome ORPHA:884
- Baller-Gerold syndrome ORPHA:1225
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- Caudal duplication ORPHA:1756
- Pallister-Hall syndrome ORPHA:672
- Johanson-Blizzard syndrome ORPHA:2315
- Ulnar-mammary syndrome ORPHA:3138
- FG syndrome type 1 ORPHA:93932
- EVEN-plus syndrome ORPHA:496751
- Feingold syndrome ORPHA:1305
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Non-syndromic anorectal malformation ORPHA:557
- Non-syndromic anorectal malformation with perineal fistula ORPHA:600952
- Non-syndromic anorectal malformation with rectourethral fistula ORPHA:600961
- Non-syndromic anorectal malformation with rectourethral fistula, bulbar type ORPHA:600966
- Non-syndromic anorectal malformation with rectourethral fistula, prostatic type ORPHA:600975
- Non-syndromic anorectal malformation with rectovesical fistula ORPHA:600984
- Non-syndromic anorectal malformation with vestibular fistula ORPHA:600993
- Non-syndromic cloacal malformation ORPHA:600998
- Non-syndromic anorectal malformation without fistula ORPHA:601002
- Non-syndromic anorectal malformation with anal stenosis ORPHA:601008
- Non-syndromic anorectal malformation with pouch colon ORPHA:601013
- Non-syndromic anorectal malformation with rectal atresia ORPHA:601018
- Non-syndromic anorectal malformation with rectal stenosis ORPHA:601023
- Non-syndromic anorectal malformation with rectovaginal fistula ORPHA:601028
- Non-syndromic anorectal malformation with H-type fistula ORPHA:601033
- Disseminated peritoneal leiomyomatosis ORPHA:71274
- Intestinal malformation ORPHA:97945
- Non-syndromic intestinal malformation ORPHA:108967
- Isolated multiple intestinal atresia ORPHA:2300
- Congenital short bowel syndrome ORPHA:2301
- Small bowel atresia ORPHA:1201
- Colonic atresia ORPHA:1198
- Familial intestinal malrotation ORPHA:508410
- Isolated small intestine duplication ORPHA:662456
- Isolated colonic duplication ORPHA:662392
- Duodenal atresia ORPHA:1203
- Syndromic intestinal malformation ORPHA:108969
- Rare disorder with Hirschsprung disease as a major feature ORPHA:557866
- Hirschsprung disease-deafness-polydactyly syndrome ORPHA:2155
- Bardet-Biedl syndrome ORPHA:110
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Haddad syndrome ORPHA:99803
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease ORPHA:163746
- Waardenburg-Shah syndrome ORPHA:897
- Hirschsprung disease-type D brachydactyly syndrome ORPHA:2150
- Mowat-Wilson syndrome ORPHA:2152
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- Mowat-Wilson syndrome due to monosomy 2q22 ORPHA:261537
- Hirschsprung disease-nail hypoplasia-dysmorphism syndrome ORPHA:2153
- Marfanoid syndrome, De Silva type ORPHA:2464
- Thoraco-abdominal enteric duplication ORPHA:1759
- Umbilical cord ulceration-intestinal atresia syndrome ORPHA:3405
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Stromme syndrome ORPHA:506307
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- Rare disorder potentially indicated for hematopoietic stem cell transplant ORPHA:506219
- Myeloid hemopathy ORPHA:171895
- Acute myeloid leukemia ORPHA:519
- Acute myeloid leukemia with recurrent genetic anomaly ORPHA:98277
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) ORPHA:98829
- Acute myeloid leukemia with 11q23 abnormalities ORPHA:98831
- Acute myeloid leukemia with t(8;21)(q22;q22) translocation ORPHA:102724
- Acute myeloid leukemia with CEBPA somatic mutations ORPHA:319480
- Acute myeloid leukemia with t(9;11)(p22;q23) ORPHA:402017
- Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) ORPHA:402020
- Acute myeloid leukemia with t(8;16)(p11;p13) translocation ORPHA:370026
- Acute myeloid leukemia with NPM1 somatic mutations ORPHA:402026
- Acute myeloid leukemia with t(6;9)(p23;q34) ORPHA:402014
- Acute promyelocytic leukemia ORPHA:520
- Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) ORPHA:402023
- Acute myeloid leukemia with t(9;22)(q34.1;q11.2) ORPHA:585867
- Acute myeloid leukaemia with myelodysplasia-related features ORPHA:86845
- Therapy related acute myeloid leukemia and myelodysplastic syndrome ORPHA:86846
- Acute myeloid leukemia and myelodysplastic syndromes related to radiation ORPHA:164726
- Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent ORPHA:102379
- Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ORPHA:102381
- Unclassified acute myeloid leukemia ORPHA:167714
- Acute megakaryoblastic leukemia ORPHA:518
- Acute megakaryoblastic leukemia in children without Down syndrome ORPHA:329469
- Acute megakaryoblastic leukemia in adult ORPHA:662934
- Acute megakaryoblastic leukemia in children with Down syndrome ORPHA:99887
- Acute myelomonocytic leukemia ORPHA:517
- Acute erythroid leukemia ORPHA:318
- Acute monoblastic/monocytic leukemia ORPHA:514
- Acute myeloid leukemia with minimal differentiation ORPHA:98832
- Acute panmyelosis with myelofibrosis ORPHA:86843
- Myeloid sarcoma ORPHA:86850
- Acute myeloblastic leukemia without maturation ORPHA:98833
- Acute myeloblastic leukemia with maturation ORPHA:98834
- Acute basophilic leukemia ORPHA:86849
- Inherited acute myeloid leukemia ORPHA:319465
- Acute leukemia of ambiguous lineage ORPHA:86851
- Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 ORPHA:168943
- Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement ORPHA:168950
- Myeloid/lymphoid neoplasm associated with JAK2 rearrangement ORPHA:589542
- Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement ORPHA:168947
- Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement ORPHA:168953
- Myelodysplastic syndrome ORPHA:52688
- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality ORPHA:86841
- Familial monosomy 7 syndrome ORPHA:495930
- Myelodysplastic neoplasm with increased blasts ORPHA:86839
- Myelodysplastic neoplasm with increased blasts type 2 ORPHA:100020
- Myelodysplastic neoplasm with increased blasts type 1 ORPHA:100019
- Refractory anemia with excess blasts in transformation ORPHA:168960
- Refractory cytopenia with multilineage dysplasia ORPHA:86836
- Unclassified myelodysplastic syndrome ORPHA:98827
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Myelodysplastic neoplasm with low blasts ORPHA:98826
- Acquired idiopathic sideroblastic anemia ORPHA:75564
- Myeloproliferative neoplasm ORPHA:98274
- Hypereosinophilic syndrome ORPHA:168956
- Secondary hypereosinophilic syndrome ORPHA:314962
- Idiopathic hypereosinophilic syndrome ORPHA:3260
- Primary hypereosinophilic syndrome ORPHA:314950
- Chronic myeloid leukemia ORPHA:521
- Primary myelofibrosis ORPHA:824
- Essential thrombocythemia ORPHA:3318
- Chronic myeloproliferative disease, unclassifiable ORPHA:86830
- Hereditary thrombocytopenia with early-onset myelofibrosis ORPHA:480851
- Chronic eosinophilic leukemia ORPHA:168940
- Transient myeloproliferative syndrome ORPHA:420611
- Polycythemia vera ORPHA:729
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome ORPHA:675775
- Chronic neutrophilic leukemia ORPHA:86829
- 14q32 duplication syndrome ORPHA:488280
- Myelodysplastic/myeloproliferative disease ORPHA:98275
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Primary hemophagocytic lymphohistiocytosis ORPHA:158038
- Primary hemophagocytic lymphohistiocytosis without hypopigmentation ORPHA:664482
- Familial hemophagocytic lymphohistiocytosis ORPHA:540
- Lysinuric protein intolerance ORPHA:470
- NOCARH syndrome ORPHA:619363
- Primary hemophagocytic lymphohistiocytosis with hypopigmentation ORPHA:331249
- Congenital neutropenia ORPHA:101987
- Syndrome with congenital neutropenia as a major feature ORPHA:331184
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384
- Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency ORPHA:675767
- TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome ORPHA:369852
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Barth syndrome ORPHA:111
- Poikiloderma with neutropenia ORPHA:221046
- Cohen syndrome ORPHA:193
- Lichtenstein syndrome ORPHA:2390
- Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176
- Shwachman-Diamond syndrome ORPHA:811
- Recurrent infections due to specific granule deficiency ORPHA:169142
- Neutropenia-monocytopenia-deafness syndrome ORPHA:2690
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency ORPHA:90023
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Severe congenital neutropenia ORPHA:42738
- X-linked severe congenital neutropenia ORPHA:86788
- Autosomal dominant severe congenital neutropenia ORPHA:486
- Autosomal recessive severe congenital neutropenia ORPHA:439849
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency ORPHA:420702
- Kostmann syndrome ORPHA:99749
- Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency ORPHA:420699
- Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384
- Cyclic neutropenia ORPHA:2686
- Combined immunodeficiency due to CRAC channel dysfunction ORPHA:169090
- Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
- Combined immunodeficiency due to ORAI1 deficiency ORPHA:317428
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies ORPHA:169346
- Combined immunodeficiency due to GINS1 deficiency ORPHA:505227
- Bloom syndrome ORPHA:125
- RIDDLE syndrome ORPHA:420741
- Ataxia-telangiectasia ORPHA:100
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- ICF syndrome ORPHA:2268
- Nijmegen breakage syndrome ORPHA:647
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ORPHA:75391
- Immunodeficiency syndrome with autoimmunity ORPHA:169355
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948
- Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946
- Combined immunodeficiency due to RELB deficiency ORPHA:688594
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency ORPHA:444463
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency ORPHA:275517
- Dianzani autoimmune lymphoproliferative disease ORPHA:275523
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- FADD-related immunodeficiency ORPHA:306550
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells ORPHA:331240
- Hyper-IgM syndrome without susceptibility to opportunistic infections ORPHA:183666
- Hyper-IgM syndrome type 5 ORPHA:101092
- Hyper-IgM syndrome type 4 ORPHA:101091
- Hyper-IgM syndrome type 2 ORPHA:101089
- Constitutional mismatch repair deficiency syndrome ORPHA:252202
- Non-severe combined immunodeficiency ORPHA:480549
- LIG4 syndrome ORPHA:99812
- Combined immunodeficiency due to OX40 deficiency ORPHA:431149
- T-cell immunodeficiency with epidermodysplasia verruciformis ORPHA:324294
- Omenn syndrome ORPHA:39041
- Combined immunodeficiency with granulomatosis ORPHA:157949
- Susceptibility to respiratory infections associated with CD8alpha chain mutation ORPHA:169085
- XMEN ORPHA:317476
- BENTA disease ORPHA:464336
- NIK deficiency ORPHA:447731
- Idiopathic CD4 lymphocytopenia ORPHA:228000
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Immunodeficiency by defective expression of MHC class II ORPHA:572
- X-linked combined immunodeficiency due to SASH3 deficiency ORPHA:653751
- Combined immunodeficiency due to FOXN1 haploinsufficiency ORPHA:676039
- Combined immunodeficiency due to FCHO1 deficiency ORPHA:647804
- Combined immunodeficiency with low immunoglobulins ORPHA:688571
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Combined immunodeficiency due to IKK2 deficiency ORPHA:397787
- Hyper-IgM syndrome with susceptibility to opportunistic infections ORPHA:183663
- Combined immunodeficiency due to DOCK2 deficiency ORPHA:447737
- Combined immunodeficiency due to CARD11 deficiency ORPHA:357237
- Combined immunodeficiency due to TFRC deficiency ORPHA:476113
- Combined immunodeficiency due to IL21R deficiency ORPHA:357329
- Combined immunodeficiency with normal Ig and poor specific antibody response ORPHA:688563
- Combined immunodeficiency due to MALT1 deficiency ORPHA:397964
- Combined immunodeficiency due to RELB deficiency ORPHA:688594
- Combined immunodeficiency due to CD27 deficiency ORPHA:238505
- Combined immunodeficiency due to CD3gamma deficiency ORPHA:169082
- Combined immunodeficiency due to DOCK8 deficiency ORPHA:217390
- Immunodeficiency by defective expression of MHC class I ORPHA:34592
- Cernunnos-XLF deficiency ORPHA:169079
- Combined immunodeficiency due to Moesin deficiency ORPHA:504530
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- Combined immunodeficiency due to ZAP70 deficiency ORPHA:911
- Combined immunodeficiency due to partial RAG1 deficiency ORPHA:231154
- TCR-alpha-beta-positive T-cell deficiency ORPHA:397959
- IL21-related infantile inflammatory bowel disease ORPHA:477661
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Combined immunodeficiency due to STK4 deficiency ORPHA:314689
- Combined immunodeficiency due to RELA haploinsufficiency ORPHA:596759
- Severe combined immunodeficiency ORPHA:183660
- T-B- severe combined immunodeficiency ORPHA:317419
- Severe combined immunodeficiency due to LCK deficiency ORPHA:280142
- Severe combined immunodeficiency due to DCLRE1C deficiency ORPHA:275
- Reticular dysgenesis ORPHA:33355
- Short-limb skeletal dysplasia with severe combined immunodeficiency ORPHA:935
- Severe combined immunodeficiency due to DNA-PKcs deficiency ORPHA:317425
- Reticular dysgenesis-like severe combined immunodeficiency ORPHA:688543
- Severe combined immunodeficiency due to adenosine deaminase deficiency ORPHA:277
- Severe combined immunodeficiency due to complete RAG1/2 deficiency ORPHA:331206
- T-B+ severe combined immunodeficiency ORPHA:317416
- T-B+ severe combined immunodeficiency due to gamma chain deficiency ORPHA:276
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta ORPHA:169160
- Severe combined immunodeficiency due to CORO1A deficiency ORPHA:228003
- Severe combined immunodeficiency due to LAT deficiency ORPHA:504523
- T-B+ severe combined immunodeficiency due to JAK3 deficiency ORPHA:35078
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency ORPHA:169154
- Severe combined immunodeficiency due to FOXN1 deficiency ORPHA:169095
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- T-B+ severe combined immunodeficiency due to CD45 deficiency ORPHA:169157
- T+ B+ severe combined immunodeficiency ORPHA:397802
- Wiskott-Aldrich syndrome ORPHA:906
- Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity ORPHA:437552
- Disorder of peroxisomal alpha-, beta- and omega-oxidation ORPHA:309810
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Refsum disease ORPHA:773
- Glutaric acidemia type 3 ORPHA:35706
- Acatalasemia ORPHA:926
- Primary hyperoxaluria type 1 ORPHA:93598
- Peroxisomal beta-oxidation disorder ORPHA:79188
- Rare aplastic anemia ORPHA:182040
- Rare acquired aplastic anemia ORPHA:164823
- Primary myelofibrosis ORPHA:824
- Idiopathic aplastic anemia ORPHA:88
- Primary acquired red cell aplasia ORPHA:98421
- Primary acquired pure red cell aplasia ORPHA:98872
- Transient erythroblastopenia of childhood ORPHA:98871
- Paroxysmal nocturnal hemoglobinuria ORPHA:447
- Rare constitutional aplastic anemia ORPHA:68383
- Shwachman-Diamond syndrome ORPHA:811
- Revesz syndrome ORPHA:3088
- Hereditary isolated aplastic anemia ORPHA:397692
- Dyskeratosis congenita ORPHA:1775
- Congenital amegakaryocytic thrombocytopenia ORPHA:3319
- Autosomal dominant aplasia and myelodysplasia ORPHA:314399
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- Diamond-Blackfan anemia ORPHA:124
- Fanconi anemia ORPHA:84
- WT limb-blood syndrome ORPHA:3466
- Pancytopenia-developmental delay syndrome ORPHA:401764
- Aplastic anemia-intellectual disability-dwarfism syndrome ORPHA:611216
- Lymphoid hemopathy ORPHA:171898
- Persistent polyclonal B-cell lymphocytosis ORPHA:300324
- Plasma cell tumor ORPHA:98282
- POEMS syndrome ORPHA:2905
- Multiple myeloma ORPHA:29073
- Non-amyloid monoclonal immunoglobulin deposition disease ORPHA:86861
- Heavy chain deposition disease ORPHA:93556
- Light and heavy chain deposition disease ORPHA:93557
- Light chain deposition disease ORPHA:93558
- AL amyloidosis ORPHA:85443
- Plasmacytoma ORPHA:86855
- Heavy chain disease ORPHA:86864
- Alpha-heavy chain disease ORPHA:100025
- Mu-heavy chain disease ORPHA:100024
- Gamma-heavy chain disease ORPHA:100026
- Plasma cell leukemia ORPHA:454714
- Castleman disease ORPHA:160
- Unicentric Castleman disease ORPHA:93685
- HHV-8-associated multicentric Castleman disease ORPHA:570438
- Idiopathic multicentric Castleman disease ORPHA:570431
- Lymphoma ORPHA:223735
- Composite lymphoma ORPHA:168966
- Non-Hodgkin lymphoma ORPHA:547
- Acute lymphoblastic leukemia ORPHA:513
- Precursor B-cell acute lymphoblastic leukemia ORPHA:99860
- B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality ORPHA:585877
- B-lymphoblastic leukemia/lymphoma with t(17;19) ORPHA:641375
- B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) ORPHA:585909
- B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) ORPHA:585918
- B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) ORPHA:585929
- B-lymphoblastic leukemia/lymphoma with hyperdiploidy ORPHA:585936
- B-lymphoblastic leukemia/lymphoma with hypodiploidy ORPHA:585942
- B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) ORPHA:585948
- B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) ORPHA:585956
- B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) ORPHA:641372
- Precursor T-cell acute lymphoblastic leukemia ORPHA:99861
- B-cell non-Hodgkin lymphoma ORPHA:171915
- Indolent B-cell non-Hodgkin lymphoma ORPHA:300842
- Waldenström macroglobulinemia ORPHA:33226
- Classic hairy cell leukemia ORPHA:58017
- B-cell chronic lymphocytic leukemia ORPHA:67038
- Indolent primary cutaneous B-cell lymphoma ORPHA:178557
- Primary cutaneous marginal zone B-cell lymphoma ORPHA:178536
- Primary cutaneous follicle center lymphoma ORPHA:178540
- Hairy cell leukemia variant ORPHA:300878
- Marginal zone lymphoma ORPHA:300912
- MALT lymphoma ORPHA:52417
- Splenic marginal zone lymphoma ORPHA:86854
- Nodal marginal zone B-cell lymphoma ORPHA:86867
- Splenic diffuse red pulp small B-cell lymphoma ORPHA:300869
- Lymphoplasmacytic lymphoma without IgM production ORPHA:443159
- Follicular lymphoma ORPHA:545
- Aggressive B-cell non-Hodgkin lymphoma ORPHA:300846
- High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement ORPHA:480541
- Burkitt lymphoma ORPHA:543
- Diffuse large B-cell lymphoma ORPHA:544
- Primary mediastinal large B-cell lymphoma ORPHA:98838
- Intravascular large B-cell lymphoma ORPHA:98839
- Lymphomatoid granulomatosis ORPHA:86869
- Diffuse large B-cell lymphoma of the central nervous system ORPHA:300849
- T-cell/histiocyte rich large B cell lymphoma ORPHA:300857
- Diffuse large B-cell lymphoma with chronic inflammation ORPHA:300888
- ALK-positive large B-cell lymphoma ORPHA:364043
- Epstein-Barr virus-positive diffuse large B-cell lymphoma ORPHA:289661
- Primary effusion lymphoma ORPHA:48686
- Mantle cell lymphoma ORPHA:52416
- B-cell prolymphocytic leukemia ORPHA:86852
- Aggressive primary cutaneous B-cell lymphoma ORPHA:178554
- Plasmablastic lymphoma ORPHA:289666
- T-cell non-Hodgkin lymphoma ORPHA:171918
- Enteropathy-associated T-cell lymphoma ORPHA:86880
- Angioimmunoblastic T-cell lymphoma ORPHA:86886
- Hepatosplenic T-cell lymphoma ORPHA:86882
- Anaplastic large cell lymphoma ORPHA:98841
- ALK-negative anaplastic large cell lymphoma ORPHA:300903
- ALK-positive anaplastic large cell lymphoma ORPHA:300895
- Breast implant-associated anaplastic large cell lymphoma ORPHA:667662
- Monomorphic epitheliotropic intestinal T-cell lymphoma ORPHA:652658
- Blastic plasmacytoid dendritic cell neoplasm ORPHA:86870
- T-cell prolymphocytic leukemia ORPHA:86871
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Hydroa vacciniforme-like lymphoma ORPHA:364039
- Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood ORPHA:364033
- Post-transplant lymphoproliferative disease ORPHA:70568
- Large granular lymphocyte leukemia ORPHA:512034
- T-cell large granular lymphocyte leukemia ORPHA:86872
- Aggressive NK-cell leukemia ORPHA:86873
- Chronic lymphoproliferative disorder of natural killer cells ORPHA:512017
- Nodal T-follicular helper cell lymphoma, follicular type ORPHA:652650
- Hodgkin lymphoma ORPHA:98293
- Classic Hodgkin lymphoma ORPHA:391
- Classic Hodgkin lymphoma, lymphocyte-depleted type ORPHA:98846
- Classic Hodgkin lymphoma, mixed cellularity type ORPHA:98844
- Classic Hodgkin lymphoma, nodular sclerosis type ORPHA:98843
- Classic Hodgkin lymphoma, lymphocyte-rich type ORPHA:98845
- Nodular lymphocyte predominant Hodgkin lymphoma ORPHA:86893
- Primary organ-specific lymphoma ORPHA:279911
- Primary pulmonary lymphoma ORPHA:2420
- Primary cutaneous lymphoma ORPHA:542
- Primary cutaneous B-cell lymphoma ORPHA:178563
- Aggressive primary cutaneous B-cell lymphoma ORPHA:178554
- Indolent primary cutaneous B-cell lymphoma ORPHA:178557
- Primary cutaneous T-cell lymphoma ORPHA:171901
- Indolent primary cutaneous T-cell lymphoma ORPHA:178548
- Primary cutaneous CD30+ T-cell lymphoproliferative disease ORPHA:541
- Subcutaneous panniculitis-like T-cell lymphoma ORPHA:86884
- Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma ORPHA:178522
- Mycosis fungoides and variants ORPHA:178566
- Aggressive primary cutaneous T-cell lymphoma ORPHA:178551
- Sézary syndrome ORPHA:3162
- Adult T-cell leukemia/lymphoma ORPHA:86875
- Extranodal nasal NK/T cell lymphoma ORPHA:86879
- Primary cutaneous peripheral T-cell lymphoma not otherwise specified ORPHA:86885
- Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma ORPHA:178528
- Primary cutaneous gamma/delta-positive T-cell lymphoma ORPHA:178533
- Primary oculocerebral lymphoma ORPHA:279897
- Primary bone lymphoma ORPHA:314684
- Primary lymphoma of the conjunctiva ORPHA:319667
- Thyroid lymphoma ORPHA:97285
- Primary intraocular lymphoma ORPHA:279904
- Primary central nervous system lymphoma ORPHA:46135
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- Immunodeficiency-associated lymphoproliferative disease ORPHA:98290
- Post-transplant lymphoproliferative disease ORPHA:70568
- Lymphoproliferative disease associated with primary immune disease ORPHA:98291
- Methotrexate-associated lymphoproliferative disorders ORPHA:86904
- TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- Histiocytic and dendritic cell tumor ORPHA:98287
- Macrophage or histiocytic tumor ORPHA:98288
- Dendritic cell tumor ORPHA:98289
- Dendritic cell sarcoma not otherwise specified ORPHA:86903
- Interdigitating dendritic cell sarcoma ORPHA:86900
- Indeterminate cell histiocytosis ORPHA:158019
- Langerhans cell histiocytosis ORPHA:389
- Pulmonary Langerhans cell histiocytosis ORPHA:687733
- Multisystem Langerhans cell histiocytosis ORPHA:687741
- Single-system multifocal Langerhans cell histiocytosis ORPHA:687738
- Unifocal Langerhans cell histiocytosis ORPHA:687730
- Langerhans cell sarcoma ORPHA:86897
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Early-onset immune dysregulation due to DOCK11 complete deficiency ORPHA:658951
- Mucopolysaccharidosis ORPHA:79213
- Mucopolysaccharidosis type 10 ORPHA:662216
- Mucopolysaccharidosis type 1 ORPHA:579
- Mucopolysaccharidosis type 4 ORPHA:582
- Hyaluronidase deficiency ORPHA:67041
- Mucopolysaccharidosis type 2 ORPHA:580
- Mucopolysaccharidosis type 2, attenuated form ORPHA:217093
- Mucopolysaccharidosis type 2, severe form ORPHA:217085
- Mucopolysaccharidosis type 3 ORPHA:581
- Sanfilippo syndrome type D ORPHA:79272
- Sanfilippo syndrome type B ORPHA:79270
- Sanfilippo syndrome type C ORPHA:79271
- Sanfilippo syndrome type A ORPHA:79269
- Mucopolysaccharidosis type 7 ORPHA:584
- Mucopolysaccharidosis type 6 ORPHA:583
- Sphingolipidosis ORPHA:79225
- Krabbe disease ORPHA:487
- Infantile Krabbe disease ORPHA:206436
- Late-infantile/juvenile Krabbe disease ORPHA:206443
- Adult Krabbe disease ORPHA:206448
- Gaucher disease ORPHA:355
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ORPHA:2072
- Fetal Gaucher disease ORPHA:85212
- Gaucher disease type 3 ORPHA:77261
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 1 ORPHA:77259
- Atypical Gaucher disease due to saposin C deficiency ORPHA:309252
- Lipid storage disease ORPHA:79204
- Lysosomal acid lipase deficiency ORPHA:275761
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Encephalopathy due to prosaposin deficiency ORPHA:139406
- Gangliosidosis ORPHA:309144
- GM1 gangliosidosis ORPHA:354
- GM1 gangliosidosis type 2 ORPHA:79256
- GM1 gangliosidosis type 3 ORPHA:79257
- GM1 gangliosidosis type 1 ORPHA:79255
- GM2 gangliosidosis ORPHA:309152
- Fabry disease ORPHA:324
- Metachromatic leukodystrophy ORPHA:512
- Metachromatic leukodystrophy, adult form ORPHA:309271
- Metachromatic leukodystrophy, late infantile form ORPHA:309256
- Metachromatic leukodystrophy, juvenile form ORPHA:309263
- Multiple sulfatase deficiency ORPHA:585
- Autosomal recessive cerebellar ataxia with late-onset spasticity ORPHA:352641
- Acid sphingomyelinase deficiency ORPHA:618899
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Farber disease ORPHA:333
- Hemoglobinopathy ORPHA:68364
- Unstable hemoglobin disease ORPHA:99139
- Hereditary methemoglobinemia ORPHA:621
- Hemoglobin C disease ORPHA:2132
- Hemoglobin D disease ORPHA:90039
- Hemoglobinopathy Toms River ORPHA:280615
- Beta-thalassemia and related diseases ORPHA:275749
- Beta-thalassemia with other manifestations ORPHA:231386
- Beta-thalassemia associated with another hemoglobin anomaly ORPHA:231230
- Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome ORPHA:46532
- Delta-beta-thalassemia ORPHA:231237
- Hemoglobin E-beta-thalassemia syndrome ORPHA:231249
- Hemoglobin C-beta-thalassemia syndrome ORPHA:231242
- Hemoglobin Lepore-beta-thalassemia syndrome ORPHA:330032
- Beta-thalassemia ORPHA:848
- Acquired methemoglobinemia ORPHA:464453
- Sickle cell disease and related diseases ORPHA:275752
- Sickle cell disease associated with another hemoglobin anomaly ORPHA:251355
- Hemoglobin S-E disease ORPHA:251375
- Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome ORPHA:251380
- Hemoglobin S-C disease ORPHA:251365
- Hemoglobin S-D Punjab disease ORPHA:251370
- Sickle cell-beta-thalassemia disease syndrome ORPHA:251359
- Sickle cell anemia ORPHA:232
- Hemoglobin M disease ORPHA:330041
- Alpha-thalassemia and related disorders ORPHA:275745
- Hemoglobin E disease ORPHA:2133
- Osteopetrosis and related disorders ORPHA:2781
- Intermediate osteopetrosis ORPHA:210110
- Melorheostosis ORPHA:2485
- Autosomal recessive malignant osteopetrosis ORPHA:667
- Infantile osteopetrosis with neuroaxonal dysplasia ORPHA:85179
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia ORPHA:556985
- Melorheostosis with osteopoikilosis ORPHA:1879
- Autosomal dominant osteopetrosis type 1 ORPHA:2783
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Osteosclerotic metaphyseal dysplasia ORPHA:500548
- Albers-Schönberg osteopetrosis ORPHA:53
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Pycnodysostosis ORPHA:763
- Dysosteosclerosis ORPHA:1782
- Osteomesopyknosis ORPHA:2777
- 12q14 microdeletion syndrome ORPHA:94063
- Isolated osteopoikilosis ORPHA:166119
- Osteopetrosis with renal tubular acidosis ORPHA:2785
- Osteopathia striata-cranial sclerosis syndrome ORPHA:2780
- Leukocyte adhesion deficiency type III ORPHA:99844
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome ORPHA:603494
- Germ cell tumor ORPHA:3399
- Extragonadal germ cell tumor ORPHA:363579
- Extragonadal non-dysgerminomatous germ cell tumor ORPHA:99913
- Mixed germ cell tumor ORPHA:180234
- Growing teratoma syndrome ORPHA:314613
- Polyembryoma ORPHA:180229
- Extragonadal teratoma ORPHA:883
- Nasopharyngeal teratoma ORPHA:141107
- Sacrococcygeal teratoma ORPHA:494421
- Epignathus ORPHA:141077
- Teratoma of the central nervous system ORPHA:252018
- Yolk sac tumor ORPHA:876
- Gestational choriocarcinoma ORPHA:99926
- Embryonal carcinoma ORPHA:180226
- Extragonadal germinoma ORPHA:182127
- Primary germ cell tumor of central nervous system ORPHA:251995
- Embryonal carcinoma of the central nervous system ORPHA:48736
- Teratoma of the central nervous system ORPHA:252018
- Mixed germ cell tumor of central nervous system ORPHA:252021
- Choriocarcinoma of the central nervous system ORPHA:252015
- Germinoma of the central nervous system ORPHA:91352
- Yolk sac tumor of central nervous system ORPHA:252006
- Gonadal germ cell tumor ORPHA:363582
- Osteosarcoma ORPHA:668
- Extraskeletal Ewing sarcoma ORPHA:370334
- Rare disorder potentially indicated for lung transplant ORPHA:506222
- Cystic fibrosis ORPHA:586
- Congenital pulmonary veins atresia or stenosis ORPHA:3188
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Bronchiolitis obliterans ORPHA:1303
- Transplant-related bronchiolitis obliterans ORPHA:658602
- Non-transplant-related bronchiolitis obliterans ORPHA:658612
- Interstitial lung disease ORPHA:182095
- Interstitial lung disease in childhood and adulthood ORPHA:264757
- Secondary interstitial lung disease in childhood and adulthood ORPHA:264944
- Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease ORPHA:264949
- Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease ORPHA:264968
- Gaucher disease type 1 ORPHA:77259
- Niemann-Pick disease type C ORPHA:646
- Niemann-Pick disease type C, severe early infantile neurologic onset ORPHA:216975
- Niemann-Pick disease type C, late infantile neurologic onset ORPHA:216978
- Niemann-Pick disease type C, juvenile neurologic onset ORPHA:216981
- Niemann-Pick disease type C, severe perinatal form ORPHA:216972
- Niemann-Pick disease type C, adult neurologic onset ORPHA:216986
- Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease ORPHA:182104
- Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis ORPHA:264973
- Cryoglobulinemic vasculitis ORPHA:91138
- Anti-neutrophil cytoplasmic antibody-associated vasculitis ORPHA:156152
- Anti-glomerular basement membrane disease ORPHA:375
- Exposure-related interstitial lung disease ORPHA:264984
- Hypersensitivity pneumonitis ORPHA:31740
- Non-fibrotic hypersensitivity pneumonitis ORPHA:686462
- Fibrotic hypersensitivity pneumonitis ORPHA:686465
- Drug or radiation exposure-related interstitial lung disease ORPHA:264978
- Secondary pulmonary alveolar proteinosis ORPHA:420259
- Secondary pulmonary hemosiderosis ORPHA:99930
- Heiner syndrome ORPHA:99932
- Primary interstitial lung disease in childhood and adulthood ORPHA:264762
- Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder ORPHA:264935
- Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder ORPHA:264930
- Interstitial lung disease due to SP-C deficiency ORPHA:440392
- Chronic respiratory distress with surfactant metabolism deficiency ORPHA:217566
- Idiopathic pulmonary hemosiderosis ORPHA:99931
- Interstitial lung disease specific to adulthood ORPHA:264735
- Primary interstitial lung disease specific to adulthood ORPHA:264740
- Birt-Hogg-Dubé syndrome ORPHA:122
- Lymphangioleiomyomatosis ORPHA:538
- Autoimmune pulmonary alveolar proteinosis ORPHA:747
- Pneumoconiosis ORPHA:182098
- Adult acute respiratory distress syndrome ORPHA:70578
- Idiopathic interstitial pneumonia ORPHA:98300
- Idiopathic pulmonary fibrosis ORPHA:2032
- Respiratory bronchiolitis-interstitial lung disease syndrome ORPHA:79127
- Lymphoid interstitial pneumonia ORPHA:79128
- Cryptogenic organizing pneumonia ORPHA:1302
- Non-specific interstitial pneumonia ORPHA:91364
- Desquamative interstitial pneumonia ORPHA:98852
- Combined pulmonary fibrosis-emphysema syndrome ORPHA:300564
- Acute interstitial pneumonia ORPHA:79126
- Idiopathic pleuroparenchymal fibroelastosis ORPHA:494428
- Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome ORPHA:210136
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome ORPHA:221043
- Secondary interstitial lung disease specific to adulthood associated with a systemic disease ORPHA:264745
- Interstitial lung disease specific to childhood ORPHA:264656
- Primary interstitial lung disease specific to childhood ORPHA:264665
- Primary interstitial lung disease specific to childhood due to alveolar structure disorder ORPHA:264670
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome ORPHA:306504
- Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies ORPHA:100049
- Brain-lung-thyroid syndrome ORPHA:209905
- Interstitial lung disease due to ABCA3 deficiency ORPHA:440402
- Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia ORPHA:572428
- Neonatal acute respiratory distress syndrome ORPHA:217563
- Hereditary pulmonary alveolar proteinosis ORPHA:264675
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ORPHA:440427
- Interstitial lung disease specific to infancy ORPHA:264694
- Pulmonary interstitial glycogenosis ORPHA:217557
- Neuroendocrine cell hyperplasia of infancy ORPHA:217560
- Fibrosis-neurodegeneration-cerebral angiomatosis syndrome ORPHA:621758
- Chronic pneumonitis of infancy ORPHA:91359
- Primary interstitial lung disease specific to childhood due to alveolar vascular disorder ORPHA:264683
- Lymphedema with yellow nails ORPHA:662
- 16q24.1 microdeletion syndrome ORPHA:352629
- Congenital alveolar capillary dysplasia ORPHA:210122
- Congenital chylothorax ORPHA:264688
- Congenital pulmonary lymphangiectasia ORPHA:2414
- Isolated pulmonary capillaritis ORPHA:264691
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- Secondary interstitial lung disease specific to childhood associated with a systemic disease ORPHA:264699
- Secondary interstitial lung disease specific to childhood associated with a granulomatous disease ORPHA:264714
- Secondary interstitial lung disease specific to childhood associated with a metabolic disease ORPHA:264719
- Hermansky-Pudlak syndrome due to BLOC-3 deficiency ORPHA:231500
- Gaucher disease type 2 ORPHA:77260
- Gaucher disease type 3 ORPHA:77261
- Familial hypocalciuric hypercalcemia ORPHA:405
- Familial hypocalciuric hypercalcemia type 1 ORPHA:93372
- Familial hypocalciuric hypercalcemia type 2 ORPHA:101049
- Familial hypocalciuric hypercalcemia type 3 ORPHA:101050
- Acid sphingomyelinase deficiency ORPHA:618899
- Secondary interstitial lung disease specific to childhood associated with a connective tissue disease ORPHA:264704
- Juvenile idiopathic arthritis ORPHA:92
- Unspecified juvenile idiopathic arthritis ORPHA:91140
- Polyarticular juvenile idiopathic arthritis ORPHA:404580
- Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis ORPHA:85435
- Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis ORPHA:85408
- Enthesitis-related juvenile idiopathic arthritis ORPHA:85438
- Systemic-onset juvenile idiopathic arthritis ORPHA:85414
- Oligoarticular juvenile idiopathic arthritis ORPHA:85410
- Psoriasis-related juvenile idiopathic arthritis ORPHA:85436
- Juvenile polymyositis ORPHA:93568
- Pediatric systemic lupus erythematosus ORPHA:93552
- Juvenile dermatomyositis ORPHA:93672
- SAMD9L-associated autoinflammatory syndrome ORPHA:619367
- Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis ORPHA:264709
- Autoimmune interstitial lung disease-arthritis syndrome ORPHA:444092
- Pulmonary arterial hypertension ORPHA:182090
- Pulmonary arterial hypertension associated with another disease ORPHA:275791
- Pulmonary arterial hypertension associated with connective tissue disease ORPHA:275798
- Pulmonary arterial hypertension associated with congenital heart disease ORPHA:275803
- Pulmonary arterial hypertension associated with portal hypertension ORPHA:275813
- Pulmonary arterial hypertension associated with chronic hemolytic anemia ORPHA:275828
- Pulmonary arterial hypertension associated with schistosomiasis ORPHA:275823
- Pulmonary arterial hypertension associated with HIV infection ORPHA:275808
- Drug- or toxin-induced pulmonary arterial hypertension ORPHA:275786
- Idiopathic/heritable pulmonary arterial hypertension ORPHA:422
- Capillary malformation-arteriovenous malformation ORPHA:137667
- Recurrent hepatitis C virus induced liver disease in liver transplant recipients ORPHA:90052
- Graft versus host disease ORPHA:39812
- De novo thrombotic microangiopathy after kidney transplantation ORPHA:244275