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 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_422 | Human Disease Ontology 123 | LOOM |