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"

53 matching diseasesClear search ×

OBSOLETE: Split foot, bilateral

ORPHA:295126

OBSOLETE: Split foot, unilateral

ORPHA:295124

OBSOLETE: Symbrachydactyly of hand and foot, bilateral

ORPHA:295138

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

ORPHA:93937

Phocomelia, Schinzel type

Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis

ORPHA:2879