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"

54 matching diseasesClear search ×

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

ORPHA:71271

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

ORPHA:42665

Treft-Sanborn-Carey syndrome

Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome · Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome

ORPHA:3349

Tropical spastic paraparesis

HAM/TSP · HTLV-1-associated myelopathy/tropical spastic paraparesis

ORPHA:289326

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297