Summary Literature (0)

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

Echinobase Genes :


OMIM:

MIM:313200 - spinal and bulbar muscular atrophy, x-linked 1; smax1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee