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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;   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;   NCI:C173468
For additional species annotation, visit the Alliance of Genome Resources.


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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 N-methyltransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
ClinVar Annotator: match by OMIM:612736
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:17576681 PMID:19027335 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28438604 PMID:28492532 PMID:32214227 NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 ClinVar PMID:12468279 PMID:25741868 NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      cerebral creatine deficiency syndrome 62
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              developmental disorder of mental health 4362
                specific developmental disorder 3621
                  communication disorder 286
                    language disorder 145
                      Language Development Disorders 78
                        guanidinoacetate methyltransferase deficiency 2
paths to the root