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| Term | centronuclear myopathy | ID (Ontology) | DOID:14717 (Human Disease) |
| 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. | ||
| Also Known As | "myotubular myopathy" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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physical disorder____ congenital myopathy__| congenital structural myopathy |__centronuclear myopathy 18 rec. |__autosomal dominant centronuclear myopathy 3 rec. | |__centronuclear myopathy 1 3 rec. | |__centronuclear myopathy 4 |__autosomal recessive centronuclear myopathy 7 rec. | |__centronuclear myopathy 2 4 rec. | |__centronuclear myopathy 5 1 rec. | |__centronuclear myopathy 6 with fiber-type disproportion 2 rec. |__centronuclear myopathy X-linked 3 rec. |
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| Is a | congenital structural myopathy | ||
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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 |
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