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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


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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 OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:125,001,673...125,003,206 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      Galloway-Mowat syndrome 13
        Galloway-Mowat syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal dominant disease 6057
                complex cortical dysplasia with other brain malformations 1565
                  Malformations of Cortical Development, Group I 1349
                    microcephaly 1110
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat syndrome 2 1
paths to the root