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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:7473653, PMID:8103286, PMID:10898977, PMID:11025683, PMID:11149925, PMID:11864373, PMID:12195014, PMID:12478284, PMID:12687501, PMID:12915473, PMID:14561717, PMID:15269155, PMID:15884002, PMID:16949823, PMID:17050694, PMID:17540168, PMID:17918734, PMID:17970806, PMID:18245432, PMID:18511961, PMID:19092927, PMID:19700661, PMID:20633244, PMID:20878268, PMID:21423166, PMID:21515363, PMID:22266952, PMID:23382385, PMID:24059268, PMID:25741868, PMID:26386261, PMID:26708094, PMID:29394990 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Takenouchi-Kosaki Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Takenouchi-Kosaki Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.