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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:Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
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Accession:DOID:9005606 term browser browse the term
Synonyms:exact_synonym: GLOW;   GLOW syndrome;   GLOW syndrome, somatic mosaic
 primary_id: OMIM:618272
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: GLOW SYNDROME OMIM
ClinVar
PMID:19556464 PMID:21266384 PMID:24676357 PMID:24839956 PMID:25741868 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Urogenital Diseases 4358
        Urogenital Neoplasms 1991
          Urologic Neoplasms 636
            Kidney Neoplasms 437
              kidney cancer 408
                nephroblastoma 86
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
paths to the root