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"

3 matching diseasesClear search ×

Autosomal dominant myosin storage myopathy

MSMA

ORPHA:636965

Autosomal recessive myosin storage myopathy

MSMB

ORPHA:636970

Mendelian susceptibility to mycobacterial diseases

Idiopathic infection caused by BCG or atypical mycobacteria · MSMD

ORPHA:748