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Metadata
ID DOID:14717
Name centronuclear myopathy
Definition A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
http://en.wikipedia.org/wiki/Centronuclear_myopathy, http://ghr.nlm.nih.gov/condition/centronuclear-myopathy
Xrefs

GARD:101

ICD10CM:G71.22

MESH:D020914

NCI:C84648

ORDO:595

ORDO:596

ORDO:69186

ORDO:69189

SNOMEDCT_US_2023_03_01:193223007

UMLS_CUI:C0175709

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

myotubular myopathy [EXACT]

Parent Relationships

is_a congenital structural myopathy

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