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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:Galloway-Mowat syndrome 3
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Accession:DOID:0080245 term browser browse the term
Definition:A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: GAMOS3
 primary_id: OMIM:617729
For additional species annotation, visit the Alliance of Genome Resources.


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Galloway-Mowat syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 ClinVar
OMIM
PMID:11519896, PMID:15966048, PMID:17897280, PMID:18019379, PMID:21791310, PMID:28272532, PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Galloway-Mowat syndrome 9
        Galloway-Mowat syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        Female Urogenital Diseases and Pregnancy Complications 1895
          Female Urogenital Diseases 1589
            female reproductive system disease 1585
              prolapse of female genital organ 187
                enterocele 187
                  Diaphragmatic Hernia 118
                    hiatus hernia 28
                      Galloway-Mowat syndrome 9
                        Galloway-Mowat syndrome 3 1
paths to the root

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