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ONTOLOGY REPORT - ANNOTATIONS


Term:Galloway-Mowat Syndrome 7
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Accession:DOID:9001199 term browser browse the term
Definition:Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome. GAMOS7 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (OMIM)
Synonyms:exact_synonym: GAMOS7
 primary_id: OMIM:618348
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Galloway-Mowat Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup107 nucleoporin 107 JBrowse link 7 60,781,724 60,825,225 RGD:7240710
RGD:8554872

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  disease 15043
    syndrome 4811
      Galloway-Mowat syndrome 9
        Galloway-Mowat Syndrome 7 1
Path 2
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  disease 15043
    disease of anatomical entity 14177
      nervous system disease 9234
        peripheral nervous system disease 2008
          neuropathy 1825
            neuromuscular disease 1391
              muscular disease 888
                diaphragm disease 95
                  Diaphragmatic Hernia 95
                    hiatus hernia 9
                      Galloway-Mowat syndrome 9
                        Galloway-Mowat Syndrome 7 1
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