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ONTOLOGY REPORT - ANNOTATIONS


Term:guanidinoacetate methyltransferase deficiency
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Accession:DOID:0050799 term browser browse the term
Definition:A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: CCDS2;   CEREBRAL CREATINE DEFICIENCY SYNDROME 2;   GAMT deficiency;   creatine deficiency syndrome due to GAMT deficiency
 primary_id: MESH:C537622
 alt_id: OMIM:612736;   RDO:0003494
 xref: GARD:2578
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guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gamt guanidinoacetate N-methyltransferase JBrowse link 7 12,314,848 12,317,998 RGD:7240710
RGD:8554872
RGD:11554173
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 JBrowse link 7 12,318,776 12,326,403 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      cerebral creatine deficiency syndrome 12
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  communication disorder 214
                    language disorder 138
                      Language Development Disorders 88
                        guanidinoacetate methyltransferase deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.