| Metadata | |
|---|---|
| ID | DOID:0060161 |
| Name | Kennedy's 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. http://en.wikipedia.org/wiki/Kennedy_disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:230253001 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Kennedy disease [EXACT] SBMA [EXACT] spinal bulbar muscular atrophy [EXACT] Spinobulbar Muscular Atrophy [EXACT] X-Linked Bulbo-Spinal Atrophy [EXACT] X-linked Spinal and Bulbar Muscular Atrophy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has location some ventral horn of spinal cord has material basis in some X-linked recessive inheritance |