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

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http://purl.obolibrary.org/obo/DOID_422 Human Disease Ontology 123 LOOM