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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;   SUGCT-RELATED CONDITION;   glutaric aciduria 3;   glutaric aciduria type 3
 primary_id: MESH:C562818
 alt_id: DOID:9004214;   MIM: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 Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency ClinVar PMID:31690835 NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:64,731,193...64,788,080 		JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:231690
ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency | ClinVar Annotator: match by term: SUGCT-related condition 		OMIM
CTD
MouseDO
ClinVar		 PMID:1909402 PMID:12555941 PMID:18925613 PMID:18926513 PMID:20818383 More... NCBI chr17:52,072,012...52,929,852
Ensembl chr17:52,072,052...52,930,281 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          peroxisomal disease 374
            glutaric acidemia type 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                glutaric acidemia type 3 2
paths to the root