Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

70 matching diseasesClear search ×

Non-syndromic urogenital tract malformation of female

ORPHA:182117

Non-syndromic urogenital tract malformation of male

ORPHA:182121

Non-syndromic urogenital tract malformation of male and female

ORPHA:182124

Non-syndromic uterovaginal malformation

ORPHA:180065

Non-syndromic vestibular fistula

Non-syndromic ARM with vestibular fistula · Non-syndromic anorectal malformation with vestibular fistula

ORPHA:600993

OBSOLETE: Chondrodysplastic malformation syndrome

ORPHA:139015

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

ORPHA:2934

Rare breast malformation

ORPHA:180163

Rare congenital non-syndromic heart malformation

ORPHA:88991

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

Rare syndrome with cardiac malformations

ORPHA:156532

Syndromic diaphragmatic or abdominal wall malformation

ORPHA:108979

Syndromic diaphragmatic or thoracic malformation

ORPHA:180779

Syndromic esophageal malformation

ORPHA:108961

Syndromic gastroduodenal malformation

ORPHA:108965

Syndromic intestinal malformation

ORPHA:108969

Syndromic renal or urinary tract malformation

ORPHA:93547

Syndromic respiratory or mediastinal malformation

ORPHA:108995

Syndromic urogenital tract malformation

ORPHA:165707

Syndromic uterovaginal malformation

ORPHA:180148

Thoracic malformation

ORPHA:182108