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"

27 matching diseasesClear search ×

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

ORPHA:85203

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

ORPHA:141333

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278

Dandy-Walker malformation-postaxial polydactyly syndrome

DWM with postaxial polydactyly · Pierquin syndrome

ORPHA:1566

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Guttmacher syndrome

Preaxial deficiency-postaxial polydactyly-hypospadias syndrome

ORPHA:2957

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

ORPHA:2110

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 polydactyly

ORPHA:2913

Non-syndromic postaxial polydactyly

ORPHA:498467

Non-syndromic preaxial polydactyly

ORPHA:498464

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome

ORPHA:2920

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

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

ORPHA:93338

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

ORPHA:2921

Scalp defects-postaxial polydactyly syndrome

ORPHA:1003

Short rib-polydactyly syndrome

ORPHA:1505

Split-foot malformation-mesoaxial polydactyly syndrome

SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome

ORPHA:488232

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259

Temtamy preaxial brachydactyly syndrome

ORPHA:363417

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

ORPHA:988