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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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Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Galloway-Mowat syndrome 9
        Galloway-Mowat Syndrome 7 1
Path 2
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 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.