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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:Wilms Tumor 5
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Accession:DOID:9001781 term browser browse the term
Definition:Susceptibility to Wilms tumor can be caused by mutation in the POU6F2 gene on chromosome 7p14. (OMIM)
Synonyms:exact_synonym: WT5;   WTSL;   Wilms Tumor and Radial Bilateral Aplasia;   bilateral radial aplasia with Wilms tumor
 primary_id: MESH:C536707
 alt_id: MIM:601583

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Wilms Tumor 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou6f2 POU class 6 homeobox 2 susceptibility ISO ClinVar Annotator: match by term: Wilms tumor 5 OMIM
ClinVar		 PMID:11284034 PMID:15459955 NCBI chrNW_004624740:21,512,810...21,961,131 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    syndrome 9561
      Hereditary Neoplastic Syndromes 1215
        nephroblastoma 123
          Wilms Tumor 5 1
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      Urogenital Diseases 4418
        urinary system disease 2207
          kidney disease 1989
            Kidney Neoplasms 461
              kidney cancer 437
                nephroblastoma 123
                  Wilms Tumor 5 1
paths to the root