Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
ClinVar Annotator: match by term: GLOW SYNDROME
ClinVar
OMIM
PMID:24676357, PMID:28492532 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Urogenital Neoplasms 1914
          Urologic Neoplasms 625
            Kidney Neoplasms 427
              kidney cancer 399
                nephroblastoma 83
                  Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.