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Summary Literature (1)
DOID:0060161 - Kennedy's disease

Disease Ontology 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.

Synonyms: Kennedy disease, spinal bulbar muscular atrophy, X-Linked Bulbo-Spinal Atrophy, X-linked Spinal and Bulbar Muscular Atrophy, SBMA, Spinobulbar Muscular Atrophy

Xenbase Genes : ar

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010735 - Kennedy disease

MIM:
MIM:313200 - SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): spinal muscular atrophy (is_a), X-linked recessive disease (is_a)