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"

12 matching diseasesClear search ×

Rare deafness

Rare hearing loss

ORPHA:68361

Albinism-deafness syndrome

Albinism-hearing loss syndrome

ORPHA:998

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

ORPHA:63

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

ORPHA:93611

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

ORPHA:93609

Duane retraction syndrome with congenital deafness

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

ORPHA:529574

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

ORPHA:494

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

ORPHA:705

Rare genetic deafness

Rare genetic hearing loss

ORPHA:96210

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

ORPHA:90642

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

ORPHA:90059

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

ORPHA:139583