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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:3-methylglutaconic aciduria type 1
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Accession:DOID:0110002 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: 3-methylglutaconic aciduria type I;   3-methylglutaconyl-CoA hydratase deficiency;   3MG-CoA hydratase deficiency;   MGA type I;   MGA1;   MGCA1
 primary_id: MESH:C562801
 alt_id: OMIM:250950;   RDO:0012364
 xref: ORDO:67046
For additional species annotation, visit the Alliance of Genome Resources.


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3-methylglutaconic aciduria type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auh AU RNA binding methylglutaconyl-CoA hydratase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 1 OMIM
ClinVar
PMID:6181239, PMID:10070612, PMID:10626578, PMID:10896289, PMID:12434311, PMID:12655555, PMID:15033206, PMID:16354225, PMID:16640564, PMID:17130438, PMID:20855850, PMID:20882351, PMID:21840233, PMID:24598254, PMID:25741868, PMID:28492532 NCBI chr17:12,310,178...12,405,224
Ensembl chr17:12,310,214...12,405,205
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              organic acidemia 54
                3-methylglutaconic aciduria 12
                  3-methylglutaconic aciduria type 1 1
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.