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"

24 matching diseasesClear search ×

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

ORPHA:1566

Central polydactyly

Mesoaxial polydactyly

ORPHA:295004

Holoprosencephaly-postaxial polydactyly syndrome

Pseudo-trisomy 13 syndrome

ORPHA:2166

Hypoplastic tibiae-postaxial polydactyly syndrome

Werner mesomelic syndrome · Hypoplastic tibia-polydactyly syndrome

ORPHA:3332

McKusick-Kaufman syndrome

Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome

ORPHA:2473

Non-syndromic postaxial polydactyly

ORPHA:498467

OBSOLETE: Postaxial polydactyly of fingers

OBSOLETE: Postaxial polydactyly of hand

ORPHA:294942

OBSOLETE: Postaxial polydactyly of toes

OBSOLETE: Postaxial polydactyly of foot

ORPHA:295008

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

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

ORPHA:2920

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

ORPHA:2919

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

Scalp defects-postaxial polydactyly syndrome

ORPHA:1003

Syndactyly type 5

Postaxial syndactyly with metacarpal synostosis · SD5

ORPHA:93406