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| Term | neurogenic scapuloperoneal syndrome Kaeser type | ID (Ontology) | DOID:0111551 (Human Disease) |
| Definition | A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. | ||
| Also Known As | "Kaeser syndrome" ; "scapuloperoneal syndrome type Kaeser" ; "scapuloperoneal syndrome, neurogenic, Kaeser type" (for all, see Synonyms field below) | ||
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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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autosomal genetic disease |__autosomal dominant disease__ muscle tissue disease | |__myopathy____________________| neurogenic scapuloperoneal syndrome Kaeser type |
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| Is a |
autosomal dominant disease myopathy |
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GARD:10312 MESH:C566695 MIM:181400 ORDO:85146 SNOMEDCT_US_2023_03_01:1208615009 UMLS_CUI:C1867005 |
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