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autosomal recessive centronuclear myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0015705

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. [ Orphanet:169186 ]

Synonyms: AR-CNM centronuclear myopathy, autosomal recessive

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0111216 (MONDO:equivalentTo)
  • Orphanet:169186 (MONDO:equivalentTo)
  • GARD:12718 (Orphanet:169186)
  • SCTID:240081004 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_169186

http://identifiers.org/snomedct/240081004

http://purl.obolibrary.org/obo/DOID_0111216

id

MONDO:0015705