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 ×

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

ORPHA:99000

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

Severe early-childhood-onset retinal dystrophy

EOSRD · Early-onset severe retinal dystrophy

ORPHA:364055

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy

ORPHA:59181