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"

9 matching diseasesClear search ×

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

ORPHA:2052

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Tonoki-Ohura-Niikawa syndrome · Cryptomicrotia-brachydactyly syndrome

ORPHA:1547

Cryptophthalmia

ORPHA:98562

Greig cephalopolysyndactyly syndrome

GCPS

ORPHA:380

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

Non-syndromic syndactyly

ORPHA:90025

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283