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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

GARD:6818

MESH:D055534

NCI:C85233

OMIM:313200

SNOMEDCT_US_2023_03_01:230253001

UMLS_CUI:C1839259

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

is_a spinal muscular atrophy

is_a X-linked recessive disease

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