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"

53 matching diseasesClear search ×

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

ORPHA:90642

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

ORPHA:2815

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

ORPHA:71271

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

X-linked spinocerebellar ataxia type 3

SCAX3 · X-linked ataxia-deafness syndrome

ORPHA:85297