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"

30 matching diseasesClear search ×

Preaxial digit brachydactyly-webbed fingers

Preaxial brachydactyly, PAX3 type

ORPHA:633211

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

ORPHA:93395

Brachydactyly type A1

Brachydactyly, Farabee type

ORPHA:93388

Brachydactyly type A2

Brachydactyly, Mohr-Wriedt type

ORPHA:93396

Brachydactyly type A4

Brachydactyly, Temtamy type · Brachymesophalangy II and V

ORPHA:93394

Brachydactyly type A5

ORPHA:93389

Brachydactyly type A6

Osebold-Remondini syndrome · Acromesomelic dysplasia, Osebold-Remondini type

ORPHA:93382

Brachydactyly type A7

Brachydactyly, Smorgasbord type

ORPHA:93397

Brachydactyly type B

ORPHA:93383

Brachydactyly type B2

ORPHA:140908

Brachydactyly type C

ORPHA:93384

Brachydactyly type E

ORPHA:93387

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

ORPHA:2946

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278

Brachydactyly-syndactyly, Zhao type

ORPHA:93409

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

Polydactyly of a biphalangeal thumb and/or hallux

PPD1 · Preaxial polydactyly type 1

ORPHA:93339

Polydactyly of a triphalangeal thumb

PPD2 · Preaxial polydactyly type 2

ORPHA:93336

Polydactyly of an index finger

PPD3 · Preaxial polydactyly type 3

ORPHA:93337

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

ORPHA:93338

Postaxial polydactyly type A

ORPHA:93334

Postaxial polydactyly type B

ORPHA:93335

Temtamy preaxial brachydactyly syndrome

ORPHA:363417