Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Galloway-Mowat syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Galloway-Mowat syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:11554173
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:11554173
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:11554173
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:11554173
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:8554872
RGD:11554173
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
RGD:11554173
Galloway-Mowat Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr73 WD repeat domain 73 JBrowse link 1 142,711,955 142,720,292 RGD:7240710
RGD:8554872
G Zfp592 zinc finger protein 592 JBrowse link 1 142,833,999 142,870,997 RGD:8554872
Galloway-Mowat syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lage3 L antigen family, member 3 JBrowse link X 156,355,376 156,356,799 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Osgep O-sialoglycoprotein endopeptidase JBrowse link 15 27,842,447 27,849,866 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53rk TP53 regulating kinase JBrowse link 3 163,552,166 163,555,925 RGD:8554872
RGD:7240710
Galloway-Mowat syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tprkb Tp53rk binding protein JBrowse link 4 117,589,527 117,604,481 RGD:8554872
RGD:7240710
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
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
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup133 nucleoporin 133 JBrowse link 19 56,681,965 56,731,404 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      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 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            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 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

NHLBI Logo

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