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"

59 matching diseasesClear search ×

OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral

OBSOLETE: Preaxial polydactyly type 2, unilateral · OBSOLETE: Unilateral PPD2

ORPHA:295148

OBSOLETE: Postaxial polydactyly of toes, unilateral

ORPHA:295179

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: Split foot, unilateral

ORPHA:295124

OBSOLETE: Split hand, unilateral

OBSOLETE: Ectrodactyly of hand, unilateral

ORPHA:295120

OBSOLETE: Terminal transverse defects of arm

OBSOLETE: Congenital limb amputation

ORPHA:93937

OBSOLETE: Tibial hemimelia, unilateral

OBSOLETE: Tibial longitudinal meromelia, unilateral

ORPHA:295077

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

Unilateral congenital megacalycosis

ORPHA:93176