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"

67 matching diseasesClear search ×

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

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

ORPHA:295114

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral

ORPHA:973

Macrodactyly of fingers, bilateral

Macrodactyly of hand, bilateral

ORPHA:295241

Macrodactyly of fingers, unilateral

Macrodactyly of hand, unilateral

ORPHA:295239

Macrodactyly of toes, bilateral

Macrodactyly of foot, bilateral

ORPHA:295245

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

OBSOLETE: Congenital absence of toes

ORPHA:435623

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: Adactyly of hand

OBSOLETE: Fingers absent

ORPHA:294931

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

OBSOLETE: Short fingers

ORPHA:294996

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

OBSOLETE: Short toes

ORPHA:294998

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

OBSOLETE: Mirror foot · OBSOLETE: Central polydactyly of foot

ORPHA:295010

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 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/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, 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: 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: Madelung deformity, bilateral

ORPHA:295223

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 fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942