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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 2
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Accession:DOID:0080244 term browser browse the term
Definition:A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: GAMOS2;   Galloway-Mowat syndrome 2, X-linked
 primary_id: OMIM:301006
For additional species annotation, visit the Alliance of Genome Resources.


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Galloway-Mowat syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED ClinVar
OMIM
PMID:12693786 PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Galloway-Mowat syndrome 10
        Galloway-Mowat syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1924
          Female Urogenital Diseases 1629
            female reproductive system disease 1625
              prolapse of female genital organ 175
                enterocele 175
                  Diaphragmatic Hernia 110
                    hiatus hernia 20
                      Galloway-Mowat syndrome 10
                        Galloway-Mowat syndrome 2 1
paths to the root