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

Congenital Structural Myopathy

label

Congenital Structural Myopathy

Preferred_Name

Congenital Structural Myopathy

prefixIRI

Thesaurus: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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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_422 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_422 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0002921 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0002921 Experimental Factor Ontology / 实验性因素本体 LOOM