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 ×

Primary anetoderma

Primary macular atrophy

ORPHA:228272

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Central areolar choroidal dystrophy

Areolar atrophy of the macula · CACD

ORPHA:75377

Confetti-like macular atrophy

ORPHA:221142

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Familial anetoderma

Hereditary anetoderma · Hereditary macular atrophy

ORPHA:228277

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Primary lipodystrophy

ORPHA:90970

Progressive muscular atrophy

PMA

ORPHA:454706

Proximal spinal muscular atrophy

Kugelberg-Welander disease · SMA

ORPHA:70

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

ORPHA:59181