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"

55 matching diseasesClear search ×

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

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

ORPHA:295112

Isolated hypoplasia of thumb

Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly

ORPHA:294988

Macrodactyly of fingers, bilateral

Macrodactyly of hand, bilateral

ORPHA:295241

Macrodactyly of toes, bilateral

Macrodactyly of foot, bilateral

ORPHA:295245

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

ORPHA:295118

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

ORPHA:295116

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: Apodia, unilateral

OBSOLETE: Congenital absence of foot, unilateral

ORPHA:295105

OBSOLETE: Brachydactyly

ORPHA:294937

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 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

OBSOLETE: Digits 2-5 hypodactyly · OBSOLETE: Digits 2-5 oligodactyly

ORPHA:294990

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, unilateral

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

ORPHA:295110

OBSOLETE: Femoral agenesis/hypoplasia, bilateral

OBSOLETE: Femoral intercalary meromelia, bilateral

ORPHA:295067

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-ulnar synostosis, bilateral

OBSOLETE: Humero-ulnar fusion, bilateral

ORPHA:295215

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: Patella aplasia/hypoplasia, bilateral

ORPHA:295041

OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral

OBSOLETE: Preaxial polydactyly type 1, bilateral

ORPHA:295146

OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral

OBSOLETE: Preaxial polydactyly type 1, unilateral

ORPHA:295144

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: Polydactyly of an index finger, bilateral

OBSOLETE: Preaxial polydactyly type 3, bilateral

ORPHA:295154

OBSOLETE: Polydactyly of an index finger, unilateral

OBSOLETE: Preaxial polydactyly type 3, unilateral

ORPHA:295152

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, bilateral

ORPHA:295181

OBSOLETE: Postaxial polydactyly of toes, unilateral

ORPHA:295179

OBSOLETE: Postaxial polydactyly type A, bilateral

ORPHA:295165

OBSOLETE: Postaxial polydactyly type A, unilateral

ORPHA:295163

OBSOLETE: Postaxial polydactyly type B, bilateral

ORPHA:295169

OBSOLETE: Postaxial polydactyly type B, unilateral

ORPHA:295167

OBSOLETE: Preaxial polydactyly of toes, bilateral

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

ORPHA:295177

OBSOLETE: Preaxial polydactyly of toes, unilateral

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

ORPHA:295175

OBSOLETE: Radial hemimelia, bilateral

OBSOLETE: Radial longitidinal meromelia, bilateral

ORPHA:295071