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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:Denys-Drash syndrome
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Accession:DOID:3764 term browser browse the term
Definition:A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). (DO)
Synonyms:exact_synonym: DDS;   Drash syndrome;   Wilms tumor and pseudo- or true hermaphroditism;   Wilms tumor and pseudohermaphroditism;   nephropathy, Wilms tumor, and genital anomalies;   pseudohermaphroditism, nephron disorder and Wilms' tumor
 primary_id: MESH:D030321
 alt_id: OMIM:194080
 xref: GARD:5576;   NCI:C84668
For additional species annotation, visit the Alliance of Genome Resources.


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Denys-Drash syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by OMIM:194080
ClinVar Annotator: match by term: Drash syndrome
ClinVar Annotator: match by term: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
OMIM
ClinVar
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1350671, PMID:1655284, PMID:1658787, PMID:1671709, PMID:6307071, PMID:7795587, PMID:8295405, PMID:8388765, PMID:8621495, PMID:8975729, PMID:9090524, PMID:9108089, PMID:9398852, PMID:9475094, PMID:9499425, PMID:9529364, PMID:9607189, PMID:10094551, PMID:10470095, PMID:10505700, PMID:10571943, PMID:10603123, PMID:10762296, PMID:11182928, PMID:12050205, PMID:12471221, PMID:12640141, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:16717397, PMID:16987884, PMID:17496156, PMID:17541636, PMID:17630404, PMID:17853480, PMID:18203154, PMID:18385267, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19484379, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:20442690, PMID:21384108, PMID:21508141, PMID:21851196, PMID:22465478, PMID:22703879, PMID:23117548, PMID:23295293, PMID:23349334, PMID:23497137, PMID:23515051, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24138039, PMID:24161391, PMID:24402088, PMID:24728327, PMID:24856380, PMID:25110071, PMID:25451826, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27241786, PMID:27300205, PMID:27719739, PMID:27899157, PMID:28204945, PMID:28334862, PMID:28492532, PMID:28811308, PMID:29668062, PMID:30963316, PMID:31937884, PMID:32581362, PMID:12161615 RGD:1580624 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Denys-Drash syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Neoplasms by Site 5282
        Urogenital Neoplasms 1912
          Urologic Neoplasms 625
            Kidney Neoplasms 427
              kidney cancer 399
                nephroblastoma 83
                  Denys-Drash syndrome 2
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.