Send us a Message



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

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
guanidinoacetate methyltransferase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gamt guanidinoacetate N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
OMIM
CTD
ClinVar
PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr 7:9,448,590...9,451,778
Ensembl chr 7:9,448,628...9,451,778
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 PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    syndrome 9625
      cerebral creatine deficiency syndrome 68
        guanidinoacetate methyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        central nervous system disease 11278
          brain disease 10564
            disease of mental health 7492
              developmental disorder of mental health 4863
                specific developmental disorder 4124
                  communication disorder 301
                    language disorder 130
                      Language Development Disorders 46
                        guanidinoacetate methyltransferase deficiency 2
paths to the root