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 ×

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

ORPHA:1490

Corneal dystrophy

ORPHA:34533

Duane retraction syndrome with congenital deafness

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

ORPHA:529574

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

ORPHA:3235

Progressive muscular dystrophy

ORPHA:206644