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ONTOLOGY REPORT - ANNOTATIONS


Term:AGAT deficiency
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Accession:DOID:0050712 term browser browse the term
Definition:An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)
Synonyms:exact_synonym: Arginine:Glycine Amidinotransferase Deficiency;   CCDS3;   CEREBRAL CREATINE DEFICIENCY SYNDROME 3;   Creatine Deficiency Syndrome due to AGAT Deficiency;   GATM DEFICIENCY;   L-Arginine:Glycine Aminidotransferase Deficiency
 primary_id: MESH:C567192;   RDO:0015333
 alt_id: OMIM:612718
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AGAT deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Duox1 dual oxidase 1 JBrowse link 3 114,251,794 114,286,827 RGD:8554872
G Duox2 dual oxidase 2 JBrowse link 3 114,218,187 114,237,808 RGD:8554872
G Duoxa1 dual oxidase maturation factor 1 JBrowse link 3 114,241,057 114,251,720 RGD:8554872
G Duoxa2 dual oxidase maturation factor 2 JBrowse link 3 114,236,718 114,240,086 RGD:8554872
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:7240710
RGD:8554872
G Shf Src homology 2 domain containing F JBrowse link 3 114,288,021 114,307,334 RGD:8554872
G Slc28a2 solute carrier family 28 member 2 JBrowse link 3 114,355,003 114,647,382 RGD:8554872
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:8554872
G Terb2 telomere repeat binding bouquet formation protein 2 JBrowse link 3 114,129,387 114,147,943 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      cerebral creatine deficiency syndrome 12
        AGAT deficiency 9
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  communication disorder 213
                    language disorder 137
                      speech disorder 48
                        AGAT deficiency 9
paths to the root