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"

4 matching diseasesClear search ×

Von Voss-Cherstvoy syndrome

DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome

ORPHA:3439

Non-syndromic urogenital tract malformation

ORPHA:165704

Non-syndromic urogenital tract malformation of male

ORPHA:182121

Syndromic urogenital tract malformation

ORPHA:165707