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 ×

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

ORPHA:857

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

ORPHA:89938

Ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural hearing loss

ORPHA:1000

Reticular dysgenesis

AK2 deficiency · De Vaal disease

ORPHA:33355

Sensorineural deafness with dilated cardiomyopathy

Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy

ORPHA:217622

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

ORPHA:90059

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

ORPHA:49827