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"

14 matching diseasesClear search ×

Rare genetic deafness

Rare genetic hearing loss

ORPHA:96210

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

ORPHA:529574

Postlingual non-syndromic genetic deafness

Isolated postlingual genetic deafness · Isolated postlingual genetic hearing loss

ORPHA:216452

Prelingual non-syndromic genetic deafness

Isolated prelingual genetic deafness · Isolated prelingual genetic hearing loss

ORPHA:216445

Rare deafness

Rare hearing loss

ORPHA:68361

Rare genetic disease

ORPHA:98053

Rare genetic dystonia

Rare genetic dystonic disorder

ORPHA:391799

Rare genetic epilepsy

ORPHA:183512

Rare genetic headache

ORPHA:183509

Rare genetic hepatic disease

ORPHA:156601

Rare genetic myoclonus

ORPHA:307064

Rare genetic nevus

ORPHA:622914

Rare genetic tumor

ORPHA:68336

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

ORPHA:90642