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"

51 matching diseasesClear search ×

OBSOLETE: Preaxial polydactyly of toes, unilateral

OBSOLETE: Bifid hallux, unilateral · OBSOLETE: Bifid halluces, unilateral

ORPHA:295175

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

ORPHA:295101

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

ORPHA:295116

OBSOLETE: Amelia of lower limb, unilateral

ORPHA:295057

OBSOLETE: Amelia of upper limb, unilateral

ORPHA:295053

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Brachydactyly of fingers, bilateral

OBSOLETE: Short fingers, bilateral

ORPHA:295130

OBSOLETE: Brachydactyly of fingers, unilateral

OBSOLETE: Short fingers, unilateral

ORPHA:295128

OBSOLETE: Brachydactyly of toes, bilateral

OBSOLETE: Short toes, bilateral

ORPHA:295134

OBSOLETE: Brachydactyly of toes, unilateral

OBSOLETE: Short toes, unilateral

ORPHA:295132

OBSOLETE: Central polydactyly of fingers, bilateral

OBSOLETE: Mirror hand, bilateral · OBSOLETE: Mesoaxial polydactyly of fingers, bilateral

ORPHA:295173

OBSOLETE: Central polydactyly of fingers, unilateral

OBSOLETE: Mesoaxial polydactyly of fingers, unilateral · OBSOLETE: Mirror hand, unilateral

ORPHA:295171

OBSOLETE: Central polydactyly of toes, bilateral

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

ORPHA:295185

OBSOLETE: Central polydactyly of toes, unilateral

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

ORPHA:295183

OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral

OBSOLETE: Adactyly of hand, bilateral · OBSOLETE: Digits 2-5 hypodactyly, bilateral

ORPHA:295114

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

ORPHA:295112

OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral

OBSOLETE: Thumb hypodactyly, unilateral · OBSOLETE: Thumb oligodactyly, unilateral

ORPHA:295110

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: Humeral agenesis/hypoplasia, unilateral

OBSOLETE: Humeral intercalary meromelia, unilateral

ORPHA:295061

OBSOLETE: Humero-radial synostosis, unilateral

OBSOLETE: Humero-radial fusion, unilateral

ORPHA:295209

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: Hyperphalangy, bilateral

OBSOLETE: Supernumerary phalanx, bilateral · OBSOLETE: Supernumerary phalanges, bilateral

ORPHA:295142

OBSOLETE: Hyperphalangy, unilateral

OBSOLETE: Hyperphalangy in digits 2-5 · OBSOLETE: Supernumerary phalanx, unilateral

ORPHA:295140

OBSOLETE: Madelung deformity, unilateral

ORPHA:295221

OBSOLETE: Patella aplasia/hypoplasia, unilateral

ORPHA:295038

OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral

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

ORPHA:295150

OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral

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

ORPHA:295148

OBSOLETE: Polysyndactyly, bilateral

OBSOLETE: Preaxial polydactyly type 4, bilateral

ORPHA:295161

OBSOLETE: Polysyndactyly, unilateral

OBSOLETE: Preaxial polydactyly type 4, unilateral

ORPHA:295159

OBSOLETE: Postaxial polydactyly of toes, unilateral

ORPHA:295179

OBSOLETE: Postaxial polydactyly type B, unilateral

ORPHA:295167

OBSOLETE: Preaxial polydactyly of toes

OBSOLETE: Bifid great toes · OBSOLETE: Preaxial polydactyly of foot

ORPHA:295006

OBSOLETE: Preaxial polydactyly of toes, bilateral

OBSOLETE: Bifid hallux, bilateral · OBSOLETE: Bifid halluces, bilateral

ORPHA:295177

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: Split foot, bilateral

ORPHA:295126

OBSOLETE: Split foot, unilateral

ORPHA:295124

OBSOLETE: Split hand, bilateral

OBSOLETE: Ectrodactyly of hand, bilateral

ORPHA:295122

OBSOLETE: Split hand, unilateral

OBSOLETE: Ectrodactyly of hand, unilateral

ORPHA:295120

OBSOLETE: Tibial hemimelia, bilateral

OBSOLETE: Tibial longitudinal meromelia, bilateral

ORPHA:295079