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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
RGD:8554872

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  disease 15620
    syndrome 5159
      Galloway-Mowat syndrome 9
        Galloway-Mowat Syndrome 6 1
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Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      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.