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Disease name
Orpha number
OMIM
ICD-10
Gene name or symbol
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Alphabetical list
56 Result(s)
ORPHA:15
Achondroplasia
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ORPHA:2299
Aortic arch interruption
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ORPHA:87
Apert syndrome
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ORPHA:1201
Atresia of small intestine
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ORPHA:2512
Autosomal recessive primary microcephaly
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ORPHA:3027
Caudal regression sequence
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ORPHA:1991
Cleft lip with or without cleft palate
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ORPHA:2014
Cleft palate
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ORPHA:1198
Colonic atresia
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ORPHA:1329
Complete atrioventricular canal
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ORPHA:973
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
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ORPHA:2140
Congenital diaphragmatic hernia
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ORPHA:3090
Congenital pulmonary venous return anomaly
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ORPHA:2040
Congenital respiratory-biliary fistula
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ORPHA:3091
Congenital systemic veins anomaly
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ORPHA:860
Congenitally uncorrected transposition of the great arteries
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ORPHA:2445
Conotruncal heart malformations
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ORPHA:98553
Developmental defect of the eye
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ORPHA:1666
Dextrocardia
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ORPHA:870
Down syndrome
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ORPHA:1203
Duodenal atresia
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ORPHA:91492
Early-onset non-syndromic cataract
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ORPHA:1880
Ebstein malformation
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ORPHA:1199
Esophageal atresia
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ORPHA:883
Extragonadal teratoma
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ORPHA:1987
Femoral agenesis/hypoplasia
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ORPHA:2368
Gastroschisis
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ORPHA:2130
Hemimelia
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ORPHA:2162
Holoprosencephaly
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ORPHA:2182
Hydrocephalus with stenosis of the aqueduct of Sylvius
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ORPHA:2248
Hypoplastic left heart syndrome
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ORPHA:1478
Interatrial communication
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ORPHA:718
Isolated Pierre Robin syndrome
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ORPHA:1048
Isolated anencephaly/exencephaly
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ORPHA:557
Isolated anorectal malformation
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ORPHA:2542
Isolated microphthalmia-anophthalmia-coloboma
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ORPHA:823
Isolated spina bifida
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ORPHA:2440
Isolated split hand-split foot malformation
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ORPHA:1202
Larynx atresia
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ORPHA:2006
Median cleft lip/mandibule
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ORPHA:568
Microphthalmia, Lenz type
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ORPHA:83463
Microtia
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ORPHA:3388
Neural tube defect
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ORPHA:498467
Non-syndromic postaxial polydactyly
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ORPHA:498464
Non-syndromic preaxial polydactyly
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ORPHA:660
Omphalocele
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ORPHA:1330
Partial atrioventricular canal
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ORPHA:2911
Poland syndrome
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ORPHA:93321
Radial hemimelia
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ORPHA:88991
Rare congenital non-syndromic heart malformation
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ORPHA:1848
Renal agenesis, bilateral
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ORPHA:799
Schizencephaly
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ORPHA:3303
Tetralogy of Fallot
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ORPHA:3378
Trisomy 13
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ORPHA:3380
Trisomy 18
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ORPHA:3384
Truncus arteriosus
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