JSON

centronuclear myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0018947

Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. [ Orphanet:595 ]

Synonyms: centronuclear myopathy CNM myotubular myopathy myopathy, centronuclear

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:14717 (MONDO:equivalentTo)
  • NCIT:C84648 (MONDO:relatedTo)
  • OMIMPS:160150 (MONDO:equivalentTo)
  • NORD:909 (MONDO:NORD)
  • Orphanet:595 (MONDO:equivalentTo)
  • UMLS:C0175709 (Orphanet:595)
  • GARD:101 (Orphanet:595)
  • SCTID:82077006 (MONDO:equivalentTo)
  • MESH:D020914 (MONDO:relatedTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, clingen, ordo_group_of_disorders

exactMatch

https://omim.org/phenotypicSeries/PS160150

http://purl.obolibrary.org/obo/DOID_14717

http://linkedlifedata.com/resource/umls/id/C0175709

http://identifiers.org/snomedct/82077006

http://www.orpha.net/ORDO/Orphanet_595

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020169

has related synonym

myopathy, myotubular

id

MONDO:0018947

seeAlso

https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy

https://search.clinicalgenome.org/kb/conditions/MONDO:0018947

Term relations

Subclass of: