Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:glutaric acidemia I
go back to main search page
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: OMIM:231670
 xref: GARD:6522;   NCI:C99101;   ORDO:25
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        Metabolic Brain Diseases 579
          glutaric acidemia I 3
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                glutaric acidemia I 3
paths to the root