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"

18 matching diseasesClear search ×

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

ORPHA:294975

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

ORPHA:294979

Isolated absence of both lower leg and foot

Isolated congenital tibiofibular terminal transverse meromelia

ORPHA:294981

Isolated absence of thigh and lower leg with foot present

Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

ORPHA:294977

Isolated femoral agenesis/hypoplasia

Isolated congenital femoral deficiency · Isolated congenital short femur

ORPHA:1987

Isolated humeral agenesis/hypoplasia

Isolated humeral intercalary meromelia · Isolated congenital absence of humerus

ORPHA:294973

Isolated humero-radial synostosis

Isolated congenital humeroradial fusion

ORPHA:3265

Isolated humero-radio-ulnar synostosis

Isolated congenital humero-radioulnar fusion

ORPHA:3266

Isolated humero-ulnar synostosis

Isolated congenital humeroulnar fusion

ORPHA:94056

Isolated radio-ulnar synostosis

Isolated congenital radioulnar fusion

ORPHA:3269

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 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, bilateral

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

ORPHA:295087

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

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

ORPHA:295085

OBSOLETE: Humeral agenesis/hypoplasia, bilateral

OBSOLETE: Humeral intercalary meromelia, bilateral

ORPHA:295063

OBSOLETE: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061