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"

6 matching diseasesClear search ×

Multiminicore myopathy

MmD · Multiminicore disease

ORPHA:598

Antenatal multiminicore disease with arthrogryposis multiplex congenita

ORPHA:178148

Moderate multiminicore disease with hand involvement

ORPHA:178145

Central core disease

ORPHA:597

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

ORPHA:324604

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

ORPHA:168598