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"

55 matching diseasesClear search ×

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