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ONTOLOGY REPORT - ANNOTATIONS


Term:Galloway-Mowat Syndrome 6
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Accession:DOID:9000383 term browser browse the term
Definition:Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with Galloway-Mowat syndrome-6 (GAMOS6) also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported. GAMOS6 is caused by homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22. (OMIM)
Synonyms:exact_synonym: GAMOS6
 primary_id: OMIM:618347
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Galloway-Mowat Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710

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  disease 15036
    syndrome 4817
      Galloway-Mowat syndrome 9
        Galloway-Mowat Syndrome 6 1
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  disease 15036
    disease of anatomical entity 14171
      nervous system disease 9229
        peripheral nervous system disease 2010
          neuropathy 1827
            neuromuscular disease 1393
              muscular disease 890
                diaphragm disease 95
                  Diaphragmatic Hernia 95
                    hiatus hernia 9
                      Galloway-Mowat syndrome 9
                        Galloway-Mowat Syndrome 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.