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| Term | Kennedy's disease | ID (Ontology) | DOID:0060161 (Human Disease) | |||||||||||||||||||||||||||||||
| Definition | A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. | |||||||||||||||||||||||||||||||||
| Also Known As | "Kennedy disease" ; "SBMA" ; "spinal bulbar muscular atrophy" (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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X-linked monogenic disease |__X-linked recessive disease__ motor neuron disease | |__spinal muscular atrophy_____| Kennedy's disease 56 rec. |
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Relationships
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| Is a |
X-linked recessive disease spinal muscular atrophy |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:6818 MESH:D055534 MIM:313200 NCI:C85233 SNOMEDCT_US_2023_03_01:230253001 UMLS_CUI:C1839259 |
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