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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
 xref: ORDO:67046


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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 IAGP
EXP		 ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MG CoA hydratase deficiency
ClinVar Annotator: match by term: 3 methylglutaconic aciduria type I | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 | ClinVar Annotator: match by term: 3MG CoA hydratase deficiency		 OMIM
ClinVar
CTD		 PMID:6181239 PMID:9536098 PMID:10070612 PMID:10626578 PMID:10896289 More... NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G LOC130002059 ATAC-STARR-seq lymphoblastoid silent region 20025 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1
ClinVar Annotator: match by term: 3 methylglutaconic aciduria type I | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 | ClinVar Annotator: match by term: 3MG CoA hydratase deficiency		 ClinVar PMID:10626578 PMID:12655555 PMID:20855850 PMID:20882351 PMID:21840233 More... NCBI chr 9:91,361,649...91,362,088 JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: 3MG CoA hydratase deficiency ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr 9:91,409,045...91,483,497
Ensembl chr 9:91,409,045...91,423,832 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 1 ClinVar PMID:28492532 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    Nutritional and Metabolic Diseases 10577
      disease of metabolism 10577
        inherited metabolic disorder 7908
          3-methylglutaconic aciduria 196
            3-methylglutaconic aciduria type 1 5
Path 2
Term Annotations click to browse term
  disease 35773
    Developmental Disease 28613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24638
        genetic disease 23830
          inherited metabolic disorder 7908
            amino acid metabolic disorder 1840
              organic acidemia 470
                3-methylglutaconic aciduria 196
                  3-methylglutaconic aciduria type 1 5
paths to the root