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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:AGAT deficiency
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Accession:DOID:0050712 term browser browse the term
Definition:An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)
Synonyms:exact_synonym: Arginine:Glycine Amidinotransferase Deficiency;   CCDS3;   Creatine Deficiency Syndrome due to AGAT Deficiency;   GATM deficiency;   L-Arginine:Glycine Aminidotransferase Deficiency;   cerebral creatine deficiency syndrome 3
 primary_id: MESH:C567192
 alt_id: OMIM:612718;   RDO:0015333
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
AGAT deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Duox1 dual oxidase 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
JBrowse link
G Duoxa1 dual oxidase maturation factor 1 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647
JBrowse link
G Duoxa2 dual oxidase maturation factor 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
JBrowse link
G Gatm glycine amidinotransferase ISO ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3
ClinVar Annotator: match by OMIM:612718
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
OMIM
ClinVar
PMID:10762163, PMID:11555793, PMID:12468279, PMID:20625172, PMID:20682460, PMID:22386973, PMID:23660394, PMID:23770102, PMID:24415674, PMID:25741868, PMID:26003046, PMID:26467025, PMID:27233232, PMID:28492532 NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
JBrowse link
G Shf Src homology 2 domain containing F ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250
JBrowse link
G Slc28a2 solute carrier family 28 member 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382
JBrowse link
G Sord sorbitol dehydrogenase ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
JBrowse link
G Terb2 telomere repeat binding bouquet formation protein 2 ISO ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar PMID:28492532 NCBI chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      cerebral creatine deficiency syndrome 54
        AGAT deficiency 9
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  communication disorder 293
                    language disorder 206
                      speech disorder 75
                        AGAT deficiency 9
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.