ONTOLOGY REPORT - ANNOTATIONS


Term:Denys-Drash syndrome
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Accession:DOID:3764 term browser browse the term
Definition:A disorder of sex development characterized by UROGENITAL ABNORMALITIES; GONADAL DYSGENESIS; and WILMS TUMOR. It is caused by a mutation in the Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
Synonyms:exact_synonym: DDS;   Drash Syndrome;   Nephropathy, Wilms Tumor, and Genital Anomalies;   Pseudohermaphroditism, Nephron Disorder and Wilms' Tumor;   Wilms tumor and pseudo- or true hermaphroditism;   Wilms tumor and pseudohermaphroditism
 primary_id: MESH:D030321
 alt_id: OMIM:194080;   RDO:0004593
 xref: GARD:5576
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Denys-Drash syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1643343
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1580624
RGD:7240710
RGD:8554872

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Path 1
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  disease 14823
    syndrome 4218
      Denys-Drash syndrome 2
Path 2
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  disease 14823
    disease of cellular proliferation 5574
      Neoplasms by Site 5020
        Urogenital Neoplasms 1819
          Urologic Neoplasms 605
            Kidney Neoplasms 415
              kidney cancer 388
                nephroblastoma 79
                  Denys-Drash syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.