Search Ontology:
Human Disease
Kennedy's disease
- Term ID
- DOID:0060161
- Synonyms
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- 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. http://en.wikipedia.org/wiki/Kennedy_disease
- References
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- GARD:6818
- MESH:D055534
- MIM:313200
- NCI:C85233
- SNOMEDCT_US_2023_03_01:230253001
- UMLS_CUI:C1839259
- Ontology
- Human Disease ( DOID:0060161 )
- is a type of
-
- inverse disjoint_from
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Other Pages
Genes Involved
Zebrafish Models