ONTOLOGY REPORT - ANNOTATIONS


Term:Turcot Syndrome
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Accession:DOID:9006244 term browser browse the term
Synonyms:exact_synonym: BTP1 SYNDROME;   BTPS1;   Brain Tumor-Polyposis Syndrome 1;   CHILDHOOD CANCER SYNDROME;   CMMRDS;   CNS tumors with Familial polyposis of the colon;   CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME;   MMR Deficiency;   MMRCS;   Mismatch Repair Cancer Syndrome;   Mismatch Repair Deficiency
 primary_id: MESH:C536928;   RDO:0002657
 alt_id: OMIM:276300
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Turcot Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:11554173
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:7240710
RGD:8554872
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:7240710
RGD:8554872
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:7240710
RGD:8554872
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Turcot Syndrome 5
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      gastrointestinal system disease 4247
        Gastrointestinal Diseases 2345
          intestinal disease 1303
            Intestinal Neoplasms 643
              Colorectal Neoplasms 620
                Turcot Syndrome 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.