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DO Term : Kennedy's disease [DOID:0060161] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
GARD:6818,
OMIM:313200,
MESH:D055534,
Kennedy disease,
SNOMEDCT_US_2023_03_01:230253001,
NCI:C85233,
spinal bulbar muscular atrophy,
UMLS_CUI:C1839259,
X-linked Spinal and Bulbar Muscular Atrophy,
Spinobulbar Muscular Atrophy,
313200,
X-Linked Bulbo-Spinal Atrophy,
SBMA

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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