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"

54 matching diseasesClear search ×

OBSOLETE: Postaxial polydactyly of toes, bilateral

ORPHA:295181

OBSOLETE: Preaxial polydactyly of toes, bilateral

OBSOLETE: Bifid hallux, bilateral · OBSOLETE: Bifid halluces, bilateral

ORPHA:295177

OBSOLETE: Preaxial polydactyly of toes, unilateral

OBSOLETE: Bifid hallux, unilateral · OBSOLETE: Bifid halluces, unilateral

ORPHA:295175

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

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982