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| Term | Duchenne muscular dystrophy | ID (Ontology) | DOID:11723 (Human Disease) |
| Definition | A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. | ||
| Also Known As | "Muscular dystrophy, Duchenne" | ||
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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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X-linked monogenic disease |__X-linked recessive disease__ myopathy | |__muscular dystrophy__________| Duchenne muscular dystrophy 16 rec. |
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| Is a |
X-linked recessive disease muscular dystrophy |
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External Crossreferences & Linkouts
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GARD:6291 MESH:D020388 MIM:310200 NCI:C75482 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0013264 |
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