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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 Aciduria
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Accession:DOID:9009132 term browser browse the term
Synonyms:exact_synonym: glutaric acidemia
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Glutaric Aciduria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar PMID:25741868 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Glutaric acidemia ClinVar NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
JBrowse link
glutaric acidemia I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO RGD PMID:15840571 RGD:10047115 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaric acidemia type I
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:231670
OMIM
ClinVar
CTD
PMID:1951469, PMID:7795610, PMID:8541831, PMID:8900227, PMID:8900228, PMID:9266361, PMID:9600243, PMID:9711871, PMID:9856558, PMID:9881681, PMID:10066389, PMID:10384381, PMID:10649503, PMID:10699052, PMID:10759157, PMID:10960496, PMID:11015709, PMID:11024031, PMID:11058907, PMID:11073722, PMID:11174631, PMID:11508549, PMID:11825066, PMID:11854167, PMID:12199454, PMID:12210585, PMID:12473778, PMID:12872844, PMID:12948740, PMID:14691600, PMID:15318278, PMID:15505393, PMID:15505400, PMID:15573311, PMID:15954035, PMID:16183314, PMID:16377226, PMID:16466958, PMID:16488172, PMID:16602100, PMID:16641220, PMID:17188916, PMID:17478444, PMID:17622945, PMID:17642054, PMID:17661081, PMID:18285246, PMID:18411069, PMID:18459892, PMID:18683078, PMID:18775954, PMID:18926513, PMID:19167251, PMID:19433275, PMID:19433437, PMID:19630565, PMID:20084589, PMID:20514322, PMID:20629163, PMID:20732827, PMID:20836999, PMID:20960650, PMID:20978942, PMID:21031586, PMID:21176883, PMID:21228398, PMID:21811973, PMID:21912879, PMID:22106832, PMID:22231382, PMID:22728054, PMID:23104440, PMID:23225040, PMID:23395213, PMID:23884036, PMID:24332224, PMID:24795062, PMID:24973495, PMID:25190159, PMID:25204480, PMID:25255367, PMID:25256449, PMID:25590979, PMID:25741868, PMID:25762492, PMID:25863083, PMID:26071121, PMID:26316201, PMID:26589311, PMID:26593172, PMID:26633542, PMID:26656312, PMID:27243974, PMID:27351573, PMID:27397597, PMID:27476540, PMID:27629047, PMID:27672653, PMID:27896087, PMID:28062662, PMID:28143689, PMID:28302372, PMID:28352331, PMID:28389991, PMID:28411331, PMID:28438223, PMID:28492532, PMID:28781846, PMID:28794906, PMID:29086383, PMID:29201125, PMID:29292490, PMID:29419857, PMID:29665094, PMID:30217722, PMID:30298489, PMID:30512148, PMID:30570710, PMID:31319225, PMID:31536184, PMID:28545977 RGD:13515124 NCBI chr19:26,000,497...26,006,970
Ensembl chr19:26,000,497...26,006,970
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by synonym: Glutaryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 1
ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency
ClinVar PMID:1951469, PMID:8900227, PMID:8900228, PMID:9600243, PMID:9711871, PMID:10699052, PMID:10960496, PMID:11058907, PMID:11073722, PMID:12210585, PMID:12948740, PMID:15318278, PMID:15505393, PMID:17478444, PMID:18683078, PMID:18926513, PMID:19630565, PMID:21031586, PMID:21176883, PMID:22728054, PMID:24973495, PMID:25256449, PMID:25741868, PMID:27672653, PMID:28302372, PMID:28438223, PMID:28492532, PMID:31536184 NCBI chr19:25,982,003...26,002,399
Ensembl chr19:25,983,169...26,001,317
JBrowse link
Glutaric Aciduria III 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 ClinVar
OMIM
PMID:1909402, PMID:12555941, PMID:18926513, PMID:25741868, PMID:28492532 NCBI chr17:49,991,314...51,030,950 JBrowse link

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
          amino acid metabolic disorder 433
            Glutaric Aciduria 4
              Glutaric Aciduria 2 0
              Glutaric Aciduria III 1
              glutaric acidemia I 3
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
              Glutaric Aciduria 4
                Glutaric Aciduria 2 0
                Glutaric Aciduria III 1
                glutaric acidemia I 3
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.