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| Term | nemaline myopathy | ID (Ontology) | DOID:3191 (Human Disease) |
| Definition | A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. | ||
| Also Known As | "Nemaline body disease" ; "nemaline rod myopathy" ; "rod body disease" (for all, see Synonyms field below) | ||
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| DO.org | |||
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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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myopathy |__congenital myopathy |__nemaline myopathy 37 rec. |__nemaline myopathy 1 2 rec. |__nemaline myopathy 2 |__nemaline myopathy 3 7 rec. |__nemaline myopathy 4 6 rec. |__nemaline myopathy 5A 1 rec. |__nemaline myopathy 5B 1 rec. |__nemaline myopathy 5C 1 rec. |__nemaline myopathy 6 |__nemaline myopathy 7 11 rec. |__nemaline myopathy 8 7 rec. |__nemaline myopathy 9 7 rec. |__nemaline myopathy 10 1 rec. |__nemaline myopathy 11 |
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| Is a | congenital myopathy | ||
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External Crossreferences & Linkouts
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GARD:12033 ICD10CM:G71.21 MESH:D017696 MIM:PS161800 ORDO:607 SNOMEDCT_US_2023_03_01:75072002 UMLS_CUI:C0206157 |
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