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"

30 matching diseasesClear search ×

OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral

ORPHA:295087

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

ORPHA:294979

Isolated absence of thigh and lower leg with foot present

Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

ORPHA:294977

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

ORPHA:294975

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

ORPHA:294973

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: Congenital absence of thigh and lower leg with foot present, bilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral

ORPHA:295091

OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral

OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral

ORPHA:295089

OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral

OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral

ORPHA:295085

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: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

ORPHA:295063

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061

OBSOLETE: Humero-radial synostosis, bilateral

OBSOLETE: Humero-radial fusion, bilateral

ORPHA:295211

OBSOLETE: Humero-radial synostosis, unilateral

OBSOLETE: Humero-radial fusion, unilateral

ORPHA:295209

OBSOLETE: Humero-radio-ulnar synostosis, bilateral

OBSOLETE: Humero-radio-ulnar fusion, bilateral

ORPHA:295207

OBSOLETE: Humero-radio-ulnar synostosis, unilateral

OBSOLETE: Humero-radio-ulnar fusion, unilateral

ORPHA:295205

OBSOLETE: Humero-ulnar synostosis, bilateral

OBSOLETE: Humero-ulnar fusion, bilateral

ORPHA:295215

OBSOLETE: Humero-ulnar synostosis, unilateral

OBSOLETE: Humero-ulnar fusion, unilateral

ORPHA:295213

OBSOLETE: Radial hemimelia, bilateral

OBSOLETE: Radial longitidinal meromelia, bilateral

ORPHA:295071

OBSOLETE: Radial hemimelia, unilateral

OBSOLETE: Radial longitidinal meromelia, unilateral

ORPHA:295069

OBSOLETE: Radio-ulnar synostosis, bilateral

OBSOLETE: Radio-ulnar fusion, bilateral

ORPHA:295219

OBSOLETE: Radio-ulnar synostosis, unilateral

OBSOLETE: Radio-ulnar fusion, unilateral

ORPHA:295217

OBSOLETE: Tibial hemimelia, bilateral

OBSOLETE: Tibial longitudinal meromelia, bilateral

ORPHA:295079

OBSOLETE: Ulnar hemimelia, bilateral

OBSOLETE: Ulnar longitudinal meromelia, bilateral

ORPHA:295073

OBSOLETE: Ulnar hemimelia, unilateral

OBSOLETE: Ulnar longitudinal meromelia, unilateral

ORPHA:295075