Term Name: | Kennedy's disease |
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Synonyms: | Kennedy disease, SBMA, spinal bulbar muscular atrophy, Spinobulbar Muscular Atrophy, X-Linked Bulbo-Spinal Atrophy, X-linked Spinal and Bulbar Muscular Atrophy |
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. |
Ontology: | Human Disease [DOID:0060161] ( DOID:0060161 ) |