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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
ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor
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:8810912 PMID:8975729 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10571943 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11278460 PMID:11322369 PMID:12050205 PMID:12471221 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:15957141 PMID:16717397 PMID:16932893 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17630404 PMID:17694336 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:21125408 PMID:21384108 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 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:25145932 PMID:25349199 PMID:25383892 PMID:25451826 PMID:25501161 PMID:25720465 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:28780565 PMID:28811308 PMID:29668062 PMID:30406062 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 16937
    syndrome 7656
      Denys-Drash syndrome 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of cellular proliferation 6909
      Neoplasms by Site 6301
        Urogenital Neoplasms 1923
          Urologic Neoplasms 629
            Kidney Neoplasms 430
              kidney cancer 401
                nephroblastoma 82
                  Denys-Drash syndrome 2
paths to the root