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- Rare abdominal surgical disease ORPHA:165711
- Spontaneous intestinal perforation ORPHA:645793
- Anal fistula ORPHA:228113
- Chylous ascites ORPHA:1160
- IgG4-related retroperitoneal fibrosis ORPHA:49041
- Renal nutcracker syndrome ORPHA:71273
- Adenoma of pancreas ORPHA:93292
- Digestive tract malformation ORPHA:98039
- Esophageal malformation ORPHA:88993
- Non-syndromic esophageal malformation ORPHA:108959
- Esophageal atresia ORPHA:1199
- Duplication of the esophagus ORPHA:91357
- Isolated esophageal duplication cyst ORPHA:100047
- Isolated tubular duplication of the esophagus ORPHA:100048
- Congenital esophageal diverticulum ORPHA:91358
- Congenital esophageal stenosis ORPHA:645749
- Laryngotracheoesophageal cleft ORPHA:2004
- Laryngotracheoesophageal cleft type 4 ORPHA:93941
- Laryngotracheoesophageal cleft type 1 ORPHA:93938
- Laryngotracheoesophageal cleft type 2 ORPHA:93939
- Laryngotracheoesophageal cleft type 3 ORPHA:93940
- Laryngotracheoesophageal cleft type 0 ORPHA:280205
- Isolated tracheoesophageal fistula ORPHA:454750
- Syndromic esophageal malformation ORPHA:108961
- Gastroduodenal malformation ORPHA:97944
- Non-syndromic gastroduodenal malformation ORPHA:108963
- Isolated gastric duplication ORPHA:662376
- Isolated pyloric duplication ORPHA:662405
- Duodenal atresia ORPHA:1203
- Congenital microgastria ORPHA:199293
- Syndromic gastroduodenal malformation ORPHA:108965
- Intestinal malformation ORPHA:97945
- Non-syndromic intestinal malformation ORPHA:108967
- Isolated multiple intestinal atresia ORPHA:2300
- Small bowel atresia ORPHA:1201
- Colonic atresia ORPHA:1198
- Congenital short bowel syndrome ORPHA:2301
- 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 monosomy 2q22 ORPHA:261537
- Mowat-Wilson syndrome due to a ZEB2 point mutation ORPHA:261552
- 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
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Stromme syndrome ORPHA:506307
- Malformation of the anal canal and the rectum ORPHA:684757
- Anorectal malformation ORPHA:96346
- 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
- Syndromic anorectal malformation ORPHA:117573
- 22q11.2 deletion syndrome ORPHA:567
- Townes-Brocks syndrome ORPHA:857
- Cat-eye syndrome ORPHA:195
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Pallister-Killian syndrome ORPHA:884
- VACTERL/VATER association ORPHA:887
- Fraser syndrome ORPHA:2052
- Currarino syndrome ORPHA:1552
- Distal deletion 13q syndrome ORPHA:1590
- Baller-Gerold syndrome ORPHA:1225
- Cataract-intellectual disability-anal atresia-urinary defects syndrome ORPHA:1381
- X-linked skeletal dysplasia-intellectual disability syndrome ORPHA:1436
- Caudal duplication ORPHA:1756
- Axial mesodermal dysplasia spectrum ORPHA:1834
- Pallister-Hall syndrome ORPHA:672
- Johanson-Blizzard syndrome ORPHA:2315
- Kabuki syndrome ORPHA:2322
- Lowe-Kohn-Cohen syndrome ORPHA:2408
- 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
- Ulnar-mammary syndrome ORPHA:3138
- VACTERL with hydrocephalus ORPHA:3412
- Opitz GBBB syndrome ORPHA:2745
- Axenfeld-Rieger syndrome ORPHA:782
- 6q terminal deletion syndrome ORPHA:75857
- LUMBAR syndrome ORPHA:83628
- Short rib-polydactyly syndrome, Verma-Naumoff type ORPHA:93271
- Okihiro syndrome ORPHA:93293
- Okihiro syndrome due to 20q13 microdeletion ORPHA:261638
- Okihiro syndrome due to a point mutation ORPHA:261647
- Cloacal exstrophy ORPHA:93929
- Ring chromosome 13 syndrome ORPHA:96176
- Maternal uniparental disomy of chromosome 16 syndrome ORPHA:96185
- Syndactyly-telecanthus-anogenital and renal malformations syndrome ORPHA:140952
- BNAR syndrome ORPHA:217266
- Caudal regression-sirenomelia spectrum ORPHA:444941
- FG syndrome type 1 ORPHA:93932
- Down syndrome ORPHA:870
- Isolated Klippel-Feil syndrome ORPHA:2345
- EVEN-plus syndrome ORPHA:496751
- Feingold syndrome ORPHA:1305
- Oculogastrointestinal-neurodevelopmental syndrome ORPHA:611201
- Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA:93270
- Isolated anal canal duplication ORPHA:684752
- Isolated rectal duplication ORPHA:171220
- Visceral malformation of the liver, biliary tract, pancreas or spleen ORPHA:98041
- Non-syndromic visceral malformation ORPHA:108971
- Congenital respiratory-biliary fistula ORPHA:2040
- Partial pancreatic agenesis ORPHA:2805
- Annular pancreas ORPHA:675
- Accessory pancreas ORPHA:674
- Isolated biliary atresia ORPHA:30391
- Caroli disease ORPHA:53035
- Familial isolated congenital asplenia ORPHA:101351
- Isolated splenogonadal fusion ORPHA:457083
- Situs inversus totalis ORPHA:101063
- Situs ambiguus ORPHA:157769
- Isolated gallbladder duplication ORPHA:662388
- Splenic venous malformation ORPHA:688523
- Syndromic visceral malformation ORPHA:108973
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ORPHA:293864
- Biliary atresia with splenic malformation syndrome ORPHA:244283
- 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
- Meckel syndrome ORPHA:564
- Splenogonadal fusion-limb defects-micrognathia syndrome ORPHA:2063
- Right sided atrial isomerism ORPHA:97548
- Pancreatic agenesis-holoprosencephaly syndrome ORPHA:556955
- Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome ORPHA:689829
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Diaphragmatic or abdominal wall malformation ORPHA:98043
- Non-syndromic diaphragmatic or abdominal wall malformation ORPHA:108977
- Congenital diaphragmatic hernia ORPHA:2140
- Omphalocele ORPHA:660
- Exstrophy-epispadias complex ORPHA:322
- Gastroschisis ORPHA:2368
- Omphalomesenteric cyst ORPHA:490
- Syndromic diaphragmatic or abdominal wall malformation ORPHA:108979
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome ORPHA:496693
- Wolf-Hirschhorn syndrome ORPHA:280
- Cornelia de Lange syndrome ORPHA:199
- Trisomy 13 syndrome ORPHA:3378
- Trisomy 18 syndrome ORPHA:3380
- Pallister-Killian syndrome ORPHA:884
- Classical Ehlers-Danlos syndrome ORPHA:287
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Pentalogy of Cantrell ORPHA:1335
- Fryns syndrome ORPHA:2059
- Diaphragmatic defect-limb deficiency-skull defect syndrome ORPHA:2141
- Donnai-Barrow syndrome ORPHA:2143
- Kabuki syndrome ORPHA:2322
- Limb body wall complex ORPHA:2369
- Matthew-Wood syndrome ORPHA:2470
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- Pericardial and diaphragmatic defect ORPHA:2847
- Omphalocele syndrome, Shprintzen-Goldberg type ORPHA:3164
- Cutis laxa ORPHA:209
- Geroderma osteodysplastica ORPHA:2078
- De Barsy syndrome ORPHA:2962
- SCARF syndrome ORPHA:3134
- Arterial tortuosity syndrome ORPHA:3342
- Occipital horn syndrome ORPHA:198
- Autosomal dominant cutis laxa ORPHA:90348
- Autosomal recessive cutis laxa type 1 ORPHA:90349
- Autosomal recessive cutis laxa type 2 ORPHA:90350
- Autosomal recessive cutis laxa type 2A ORPHA:357058
- Autosomal recessive cutis laxa type 2B ORPHA:357064
- RIN2 syndrome ORPHA:217335
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies ORPHA:221145
- Lethal arteriopathy syndrome due to fibulin-4 deficiency ORPHA:314718
- Craniofaciofrontodigital syndrome ORPHA:363705
- Emanuel syndrome ORPHA:96170
- Classical-like Ehlers-Danlos syndrome type 1 ORPHA:230839
- Familial omphalocele syndrome with facial dysmorphism ORPHA:280403
- Spigelian hernia-cryptorchidism syndrome ORPHA:314432
- Lethal hydranencephaly-diaphragmatic hernia syndrome ORPHA:480528
- Diaphragmatic hernia-short bowel-asplenia syndrome ORPHA:527468
- Primary peritoneal tumor ORPHA:168803
- Primary benign peritoneal tumor ORPHA:676030
- Disseminated peritoneal leiomyomatosis ORPHA:71274
- Well-differentiated papillary mesothelial tumour of the peritoneum ORPHA:676033
- Adenomatoid tumour of the peritoneum ORPHA:675976
- Peritoneal inclusion cyst ORPHA:168816
- Primary malignant peritoneal tumor ORPHA:168807
- IgG4-related mesenteritis ORPHA:238593
- Celiac artery compression syndrome ORPHA:293208
- Myospherulosis ORPHA:306553
- Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome ORPHA:313800
- GCGR-related hyperglucagonemia ORPHA:438274
- IgG4-related aortitis ORPHA:449400
- Superior mesenteric artery syndrome ORPHA:622099