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"

32 matching diseasesClear search ×

OBSOLETE: Fibular hemimelia, bilateral

OBSOLETE: Fibular longitudinal meromelia, bilateral

ORPHA:295083

Isolated fibular hemimelia

Isolated congenital longitudinal deficiency of the fibula · Isolated fibular longitudinal meromelia

ORPHA:93323

Isolated radial hemimelia

Isolated radial ray agenesis · Isolated radial longitidinal meromelia

ORPHA:93321

Isolated tibial hemimelia

Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula

ORPHA:93322

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

ORPHA:93320

Non-syndromic hemimelia

Non-syndromic longitudinal meromelia

ORPHA:2130

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

OBSOLETE: Amelia of lower limb, bilateral

ORPHA:295059

OBSOLETE: Amelia of upper limb, bilateral

ORPHA:295055

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Central polydactyly of toes, bilateral

OBSOLETE: Mirror foot, bilateral · OBSOLETE: Mesoaxial polydactyly of toes, bilateral

ORPHA:295185

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, bilateral

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

ORPHA:295087

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, unilateral

OBSOLETE: Fibular longitudinal meromelia, unilateral

ORPHA:295081

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-ulnar synostosis, bilateral

OBSOLETE: Humero-ulnar fusion, bilateral

ORPHA:295215

OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral

OBSOLETE: Preaxial polydactyly type 2, bilateral · OBSOLETE: Bilateral PPD2

ORPHA:295150

OBSOLETE: Radial hemimelia, bilateral

OBSOLETE: Radial longitidinal meromelia, bilateral

ORPHA:295071

OBSOLETE: Radial hemimelia, unilateral

OBSOLETE: Radial longitidinal meromelia, unilateral

ORPHA:295069

OBSOLETE: Terminal limb defects

OBSOLETE: Terminal meromelia

ORPHA:294929

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