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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Kennedy's disease
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Accession:DOID:0060161 term browser browse the term
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. (DO)
Synonyms:exact_synonym: KD;   Kennedy Syndrome;   Kennedy disease;   Kennedy spinal and bulbar muscular atrophy;   Kennedys disease;   SBMA;   SMAX1;   X linked bulbospinal muscular atrophy;   X-linked bulbo-spinal atrophies;   X-linked bulbo-spinal atrophy;   X-linked bulbospinal neuronopathy, recessive;   X-linked spinal and bulbar muscular atrophy;   X-linked spinal and bulbar muscular atrophy 1;   XBSN;   spinal and bulbar muscular atrophy;   spinal bulbar muscular atrophy;   spinobulbar muscular atrophy
 primary_id: MESH:D055534
 alt_id: MESH:C537017;   OMIM:313200
 xref: GARD:6818;   NCI:C85233
For additional species annotation, visit the Alliance of Genome Resources.


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Kennedy's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor treatment ISO DNA:mutation,repeats:cds:
ClinVar Annotator: match by term: Kennedy disease
DNA:repeats:exon
ClinVar
OMIM
PMID:25741868, PMID:2062380, PMID:8469342, PMID:26942099 RGD:734599, RGD:11576241, RGD:11576229 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:skeletal muscle RGD PMID:10447463 RGD:6218978 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          Nervous System Heredodegenerative Disorders 1977
            Kennedy's disease 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              motor neuron disease 386
                spinal muscular atrophy 125
                  Kennedy's disease 2
paths to the root