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| Term | myotonic dystrophy type 2 | ID (Ontology) | DOID:0050759 (Human Disease) | |||||||||||||||||||||||||||
| Definition | A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. | |||||||||||||||||||||||||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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muscular dystrophy |__myotonic disease |__myotonic dystrophy type 2 25 rec. |
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| Is a | myotonic disease | ||
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GARD:9728 ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 MIM:602668 NCI:C84913 ORDO:606 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 |
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