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"

25 matching diseasesClear search ×

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

Absent tibia-polydactyly syndrome · Werner mesomelic spectrum

ORPHA:988

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

ORPHA:3328

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

ORPHA:85203

Aniridia-absent patella syndrome

ORPHA:1069

Ectrodactyly-polydactyly syndrome

ORPHA:1892

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

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

Non-syndromic complex polydactyly

ORPHA:498470

Non-syndromic polydactyly

ORPHA:2913

Non-syndromic postaxial polydactyly

ORPHA:498467

Non-syndromic preaxial polydactyly

ORPHA:498464

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Scalp defects-postaxial polydactyly syndrome

ORPHA:1003

Short rib-polydactyly syndrome

ORPHA:1505

Short rib-polydactyly syndrome type 5

ORPHA:498497

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

ORPHA:93268

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

ORPHA:93269

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

ORPHA:93270

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

ORPHA:93271

Syndactyly type 2

Synpolydactyly

ORPHA:93403

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

ORPHA:2950