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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 I
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Accession:DOID:0111254 term browser browse the term
Definition:An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13. (DO)
Synonyms:exact_synonym: GA I;   GA1;   GLUTARIC ACIDURIA, TYPE 1;   Glutaric Acidemia Type 1;   Glutaric Acidemia Type I;   Glutaric Aciduria I;   Glutaric aciduria 1;   glutaric academia type 1;   glutaric acidemia 1;   glutaric aciduria type I;   glutaryl-CoA dehydrogenase deficiency;   glutaryl-coenzyme A dehydrogenase deficiency
 primary_id: MESH:C536833
 alt_id: DOID:9006485;   OMIM:231670;   RDO:0002531
 xref: GARD:6522;   NCI:C99101;   ORDO:25
For additional species annotation, visit the Alliance of Genome Resources.


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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: Glutaryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 1
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        Metabolic Brain Diseases 574
          glutaric acidemia I 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                glutaric acidemia I 3
paths to the root

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