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"

8 matching diseasesClear search ×

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

Adult-onset autosomal dominant leukodystrophy

ADLD · Adult-onset autosomal dominant demyelinating leukodystrophy

ORPHA:99027

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

ORPHA:589830

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

ORPHA:75381

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Occult macular dystrophy

OCMD · OMD

ORPHA:247834

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

ORPHA:59181