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X-linked centronuclear myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0010683

A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure. [ Orphanet:596 ]

Synonyms: centronuclear myopathy, X-linked X-linked myotubular myopathy XLCNM MTM myotubular myopathy, X-linked, X-linked recessive XLMTM X-linked centronuclear myopathy

This is just here as a test because I lose it

Term information

database cross reference
  • NCIT:C118781 (MONDO:equivalentTo)
  • UMLS:C0410203 (Orphanet:596/e)
  • NORD:1867 (MONDO:NORD)
  • Orphanet:596 (OMIM:310400)
  • DOID:0111225 (MONDO:equivalentTo)
  • GARD:11925 (Orphanet:596)
  • SCTID:46804001 (MONDO:equivalentTo)
  • OMIM:310400 (Orphanet:596/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6730

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://www.orpha.net/ORDO/Orphanet_596

http://linkedlifedata.com/resource/umls/id/C0410203

http://purl.obolibrary.org/obo/NCIT_C118781

https://omim.org/entry/310400

http://identifiers.org/snomedct/46804001

http://purl.obolibrary.org/obo/DOID_0111225

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0002921

http://purl.obolibrary.org/obo/MONDO_0020119

http://purl.obolibrary.org/obo/MONDO_0016154

has related synonym

myotubular myopathy, X-linked

CNMX

myotubular myopathy 1

myopathy, centronuclear, X-linked

id

MONDO:0010683

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010683

Term relations