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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:glutaric acidemia type 3
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Accession:DOID:0112246 term browser browse the term
Definition:A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. (DO)
Synonyms:exact_synonym: GA III;   GA3;   Glutaric Aciduria III;   Glutaryl-CoA Oxidase Deficiency;   glutaric aciduria 3;   glutaric aciduria type 3
 primary_id: MESH:C562818
 alt_id: DOID:9004214;   OMIM:231690
 xref: GARD:12469;   ORDO:35706


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glutaric acidemia type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sugct succinyl-CoA glutarate-CoA transferase ISO
IAGP		 OMIM:231690
ClinVar Annotator: match by term: GA III | ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:1909402 PMID:12555941 PMID:18926513 PMID:20818383 PMID:23893049 More... NCBI chr13:17,032,057...17,869,380
Ensembl chr13:17,032,057...17,870,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        inherited metabolic disorder 5665
          peroxisomal disease 349
            glutaric acidemia type 3 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6605
                glutaric acidemia type 3 1
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