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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 SUGCT 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 succinylCoA:glutarate-CoA transferase ISO ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency OMIM
ClinVar		 PMID:1909402 PMID:12555941 PMID:18926513 PMID:25741868 PMID:28492532 NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4645
          peroxisomal disease 270
            glutaric acidemia type 3 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                glutaric acidemia type 3 1
paths to the root