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ONTOLOGY REPORT - ANNOTATIONS


Term:Galloway-Mowat syndrome
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Accession:DOID:0060364 term browser browse the term
Definition:An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. (DO)
Synonyms:exact_synonym: CAMOS;   GAMOS;   Galloway syndrome;   cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;   microcephaly, hiatal hernia and nephrotic syndrome;   microcephaly, hiatus hernia, and nephrotic syndrome;   nephrosis-microcephaly syndrome;   nephrosis-neuronal dysmigration syndrome
 primary_id: MESH:C537311;   MESH:C537548
 alt_id: RDO:0003131;   RDO:0003408
 xref: GARD:65;   NCI:C132195;   OMIM:PS251300;   ORDO:2065
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Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LAGE3 L antigen family member 3 JBrowse link X 122,185,300 122,186,498 RGD:9068941
G OSGEP O-sialoglycoprotein endopeptidase JBrowse link 15 17,780,474 17,786,452 RGD:9068941
G TP53RK TP53 regulating kinase JBrowse link 24 33,895,530 33,898,461 RGD:9068941
G TPRKB TP53RK binding protein JBrowse link 17 49,271,845 49,278,794 RGD:9068941
G WDR73 WD repeat domain 73 JBrowse link 3 53,914,048 53,927,130 RGD:9068941
G ZNF592 zinc finger protein 592 JBrowse link 3 53,980,438 54,056,011 RGD:9068941
Galloway-Mowat Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR73 WD repeat domain 73 JBrowse link 3 53,914,048 53,927,130 RGD:7240710
RGD:9068941
G ZNF592 zinc finger protein 592 JBrowse link 3 53,980,438 54,056,011 RGD:9068941
Galloway-Mowat syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LAGE3 L antigen family member 3 JBrowse link X 122,185,300 122,186,498 RGD:9068941
RGD:7240710
Galloway-Mowat syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OSGEP O-sialoglycoprotein endopeptidase JBrowse link 15 17,780,474 17,786,452 RGD:9068941
RGD:7240710
Galloway-Mowat syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TP53RK TP53 regulating kinase JBrowse link 24 33,895,530 33,898,461 RGD:9068941
RGD:7240710
Galloway-Mowat syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TPRKB TP53RK binding protein JBrowse link 17 49,271,845 49,278,794 RGD:9068941
RGD:7240710
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WDR4 WD repeat domain 4 JBrowse link 31 37,085,126 37,106,803 RGD:7240710
RGD:9068941
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP107 nucleoporin 107 JBrowse link 10 10,838,881 10,887,347 RGD:7240710
RGD:9068941
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP133 nucleoporin 133 JBrowse link 4 9,751,902 9,805,796 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11436
    syndrome 4311
      Galloway-Mowat syndrome 9
        Galloway-Mowat Syndrome 1 2
        Galloway-Mowat Syndrome 6 1
        Galloway-Mowat Syndrome 7 1
        Galloway-Mowat Syndrome 8 1
        Galloway-Mowat syndrome 2 1
        Galloway-Mowat syndrome 3 1
        Galloway-Mowat syndrome 4 1
        Galloway-Mowat syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 11436
    disease of anatomical entity 10905
      nervous system disease 8392
        peripheral nervous system disease 1930
          neuropathy 1763
            neuromuscular disease 1343
              muscular disease 861
                diaphragm disease 93
                  Diaphragmatic Hernia 93
                    hiatus hernia 9
                      Galloway-Mowat syndrome 9
                        Galloway-Mowat Syndrome 1 2
                        Galloway-Mowat Syndrome 6 1
                        Galloway-Mowat Syndrome 7 1
                        Galloway-Mowat Syndrome 8 1
                        Galloway-Mowat syndrome 2 1
                        Galloway-Mowat syndrome 3 1
                        Galloway-Mowat syndrome 4 1
                        Galloway-Mowat syndrome 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.