National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Congenital Structural Myopathy
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84648
code	C84648
DEFINITION	A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.
FULL_SYN	Centronuclear Myopathy
label	Congenital Structural Myopathy
Preferred_Name	Congenital Structural Myopathy
prefixIRI	C84648
prefLabel	Congenital Structural Myopathy
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0752282
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101216 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_422	Human Disease Ontology 123	LOOM