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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   GAMT deficiency;   GAMT-RELATED CONDITION;   cerebral creatine deficiency syndrome 2;   creatine deficiency syndrome due to GAMT deficiency
 primary_id: MESH:C537622
 alt_id: OMIM:612736
 xref: GARD:2578;   NCI:C173468


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guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate methyltransferase ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:612736
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr10:80,093,985...80,096,846
Ensembl chr10:80,093,985...80,096,846 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr10:80,084,939...80,092,628
Ensembl chr10:80,084,955...80,092,628 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      cerebral creatine deficiency syndrome 129
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4534
                  communication disorder 390
                    language disorder 158
                      Language Development Disorders 65
                        guanidinoacetate methyltransferase deficiency 2
paths to the root