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"

4 matching diseasesClear search ×

Duchenne muscular dystrophy

DMD · Duchenne

ORPHA:98896

Becker muscular dystrophy

BMD · Becker dystrophinopathy

ORPHA:98895

Duchenne and Becker muscular dystrophy

Severe dystrophinopathy, Duchenne and Becker type

ORPHA:262

Qualitative or quantitative defects of dystrophin

Dystrophinopathy

ORPHA:207085