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Standards Ontologies Notations
Kennedy's disease

Summary
Synonym
  • Kennedy disease
  • SBMA
  • Spinobulbar Muscular Atrophy
  • X-Linked Bulbo-Spinal Atrophy
  • X-linked Spinal and Bulbar Muscular Atrophy
  • spinal 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.
Super Class
X-linked recessive disease spinal muscular atrophy
Disease Ontology
DOID:0060161
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
367 AR androgen receptor
2668 GDNF glial cell derived neurotrophic factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
14573 Gdnf glial cell line derived neurotrophic factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
25453 Gdnf glial cell derived neurotrophic factor
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
779087 gdnf.L glial cell derived neurotrophic factor L homeolog Xenopus laevis (African clawed frog)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024