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"

19 matching diseasesClear search ×

Facioscapulohumeral dystrophy

Landouzy-Dejerine dystrophy · FSH dystrophy

ORPHA:269

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Bothnia retinal dystrophy

Västerbotten dystrophy

ORPHA:85128

Complex regional pain syndrome type 1

Algodystrophy · Reflex sympathetic dystrophy

ORPHA:99995

Cone rod dystrophy

ORPHA:1872

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

ORPHA:101068

Corneal dystrophy

ORPHA:34533

Fleck corneal dystrophy

FCD · François-Neetens speckled corneal dystrophy

ORPHA:98970

Leukodystrophy

ORPHA:68356

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Myotonic dystrophy

ORPHA:206647

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

ORPHA:63454

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

ORPHA:98973

Progressive cone dystrophy

Cone dystrophy

ORPHA:1871

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

ORPHA:207085

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

ORPHA:59181

Stromal corneal dystrophy

ORPHA:98626