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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 OMIM
ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      Galloway-Mowat syndrome 13
        Galloway-Mowat syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal dominant disease 5232
                complex cortical dysplasia with other brain malformations 1451
                  Malformations of Cortical Development, Group I 1301
                    microcephaly 1125
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat syndrome 3 1
paths to the root