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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: MIM: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 N-methyltransferase IAGP
ISS
EXP		 ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT DEFICIENCY
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT DEFICIENCY | ClinVar Annotator: match by term: GAMT-related condition
OMIM:612736
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2476685 PMID:8651275 PMID:9386672 PMID:9536098 PMID:11136556 More... NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570 		JBrowse link
G LOC130062945 ATAC-STARR-seq lymphoblastoid silent region 9707 IAGP ClinVar Annotator: match by term: GAMT DEFICIENCY
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GAMT DEFICIENCY
ClinVar Annotator: match by term: GAMT DEFICIENCY | ClinVar Annotator: match by term: GAMT-related condition		 ClinVar PMID:9536098 PMID:15108290 PMID:15651030 PMID:16855203 PMID:17101918 More... NCBI chr19:1,401,280...1,401,859 JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP ClinVar Annotator: match by term: GAMT DEFICIENCY ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    syndrome 38755
      cerebral creatine deficiency syndrome 163
        guanidinoacetate methyltransferase deficiency 3
Path 2
Term Annotations click to browse term
  disease 146647
    disease of anatomical entity 133718
      nervous system disease 71379
        central nervous system disease 51285
          brain disease 48626
            disease of mental health 39457
              developmental disorder of mental health 14877
                specific developmental disorder 9717
                  communication disorder 776
                    language disorder 393
                      Language Development Disorders 126
                        guanidinoacetate methyltransferase deficiency 3
paths to the root