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"

50 matching diseasesClear search ×

X-linked scapuloperoneal muscular dystrophy

X-linked SPMD · X-linked scapuloperoneal syndrome

ORPHA:431272

X-linked spinocerebellar ataxia type 4

SCAX4 · X-linked ataxia-dementia syndrome

ORPHA:85292