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"

8 matching diseasesClear search ×

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

ORPHA:319160

Autosomal dominant centronuclear myopathy

AD-CNM

ORPHA:169189

Autosomal recessive centronuclear myopathy

AR-CNM

ORPHA:169186

BAG3-related myofibrillar myopathy

MFM6 · Myofibrillar myopathy type 6

ORPHA:199340

Centronuclear myopathy

CNM

ORPHA:595

HNRNPA1-related adult-onset distal myopathy

Distal myopathy type 3 · MPD3

ORPHA:399086

Laing distal myopathy

Distal myopathy type 1 · MPD1

ORPHA:59135

X-linked centronuclear myopathy

XLCNM · XLMTM

ORPHA:596