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"

7 matching diseasesClear search ×

OBSOLETE: Say-Field-Coldwell syndrome

OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome

ORPHA:3133

OBSOLETE: Congenital patella dislocation, bilateral

ORPHA:295237

OBSOLETE: Congenital patella dislocation, unilateral

ORPHA:295234

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

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

ORPHA:2950

Triphalangeal thumbs-brachyectrodactyly syndrome

Carnevale-Hernández-del Castillo-Torres syndrome

ORPHA:2947