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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
 xref: GARD:5576;   MESH:D030321;   MIM:194080;   MONDO:0008682;   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 chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912 		JBrowse link
G DCDC1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr18:36,024,054...36,484,119
Ensembl chr18:36,024,107...36,480,774 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr18:35,935,826...36,024,062
Ensembl chr18:35,639,011...36,024,005 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005 		JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr18:35,880,278...35,963,128
Ensembl chr18:35,880,183...35,963,494 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More...
G RCN1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr18:35,373,175...35,393,389
Ensembl chr18:35,374,116...35,395,528 		JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    syndrome 10494
      Denys-Drash syndrome 8
Path 2
Term Annotations click to browse term
  disease 15721
    disease of cellular proliferation 7511
      Neoplasms by Site 6978
        Urogenital Neoplasms 2286
          Urologic Neoplasms 705
            Kidney Neoplasms 487
              kidney cancer 460
                nephroblastoma 137
                  Denys-Drash syndrome 8
paths to the root