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"

19 matching diseasesClear search ×

OBSOLETE: Terminal limb defects

OBSOLETE: Terminal meromelia

ORPHA:294929

OBSOLETE: Congenital absence of both forearm and hand, bilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral

ORPHA:295095

OBSOLETE: Congenital absence of both forearm and hand, unilateral

OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral

ORPHA:295093

OBSOLETE: Congenital absence of both lower leg and foot, bilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral

ORPHA:295099

OBSOLETE: Congenital absence of both lower leg and foot, unilateral

OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral

ORPHA:295097

OBSOLETE: Dysharmonic micromelia

ORPHA:93470

OBSOLETE: Femoral agenesis/hypoplasia, bilateral

OBSOLETE: Femoral intercalary meromelia, bilateral

ORPHA:295067

OBSOLETE: Femoral agenesis/hypoplasia, unilateral

OBSOLETE: Femoral intercalary meromelia, unilateral

ORPHA:295065

OBSOLETE: Fibular hemimelia, bilateral

OBSOLETE: Fibular longitudinal meromelia, bilateral

ORPHA:295083

OBSOLETE: Fibular hemimelia, unilateral

OBSOLETE: Fibular longitudinal meromelia, unilateral

ORPHA:295081

OBSOLETE: Harmonic micromelia

ORPHA:93469

OBSOLETE: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

ORPHA:295063

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061

OBSOLETE: Radial hemimelia, bilateral

OBSOLETE: Radial longitidinal meromelia, bilateral

ORPHA:295071

OBSOLETE: Radial hemimelia, unilateral

OBSOLETE: Radial longitidinal meromelia, unilateral

ORPHA:295069

OBSOLETE: Tibial hemimelia, bilateral

OBSOLETE: Tibial longitudinal meromelia, bilateral

ORPHA:295079

OBSOLETE: Tibial hemimelia, unilateral

OBSOLETE: Tibial longitudinal meromelia, unilateral

ORPHA:295077

OBSOLETE: Ulnar hemimelia, bilateral

OBSOLETE: Ulnar longitudinal meromelia, bilateral

ORPHA:295073

OBSOLETE: Ulnar hemimelia, unilateral

OBSOLETE: Ulnar longitudinal meromelia, unilateral

ORPHA:295075