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

ONTOLOGY REPORT - ANNOTATIONS


Term:Galloway-Mowat Syndrome 1
go back to main search page
Accession:DOID:9005778 term browser browse the term
Definition:Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome. Galloway-Mowat syndrome-1 (GAMOS1) is caused by homozygous mutation in the WDR73 gene on chromosome 15q25. (OMIM)
Synonyms:exact_synonym: GAMOS1;   SCAR5;   SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
 primary_id: OMIM:251300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15036
    syndrome 4817
      Galloway-Mowat syndrome 9
        Galloway-Mowat Syndrome 1 2
Path 2
Term Annotations click to browse term
  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 1 2
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.