Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 xref: ORDO:67046
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr17:12,329,522...12,424,896
Ensembl chr17:12,329,524...12,424,896
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          3-methylglutaconic aciduria 12
            3-methylglutaconic aciduria type 1 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            amino acid metabolic disorder 447
              organic acidemia 54
                3-methylglutaconic aciduria 12
                  3-methylglutaconic aciduria type 1 1
paths to the root