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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:Takenouchi-Kosaki Syndrome
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Accession:DOID:9006962 term browser browse the term
Synonyms:exact_synonym: TKS;   macrothrombocytopenia and mental retardation syndrome
 primary_id: OMIM:616737
For additional species annotation, visit the Alliance of Genome Resources.



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Takenouchi-Kosaki Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Takenouchi-Kosaki syndrome OMIM
ClinVar
PMID:25741868 PMID:26386261 PMID:26708094 PMID:28991257 PMID:29335451 More... NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Takenouchi-Kosaki Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            disease of mental health 7064
              developmental disorder of mental health 4402
                specific developmental disorder 3664
                  intellectual disability 3475
                    Takenouchi-Kosaki Syndrome 1
paths to the root