congenital structural myopathy

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Information
Disease name
congenital structural myopathy
Disease ID
DOID:422
Description
"A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills." [url:https\://pubmed.ncbi.nlm.nih.gov/23897157/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0081337
Cross Reference ID (Disease Ontology)
MESH:D020914
Cross Reference ID (Disease Ontology)
NCI:C84648
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0752282
MedGen concept unique identifier (MedGen Concept name)
C0752282
MedGen unique identifier (MedGen Concept name)
156050