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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:25
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glutaric acidemia I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:10047115
G Gcdh glutaryl-CoA dehydrogenase JBrowse link 19 26,000,497 26,006,970 RGD:7240710
RGD:8554872
RGD:13515124
RGD:11554173
G Syce2 synaptonemal complex central element protein 2 JBrowse link 19 25,982,003 26,002,399 RGD:8554872

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  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        Metabolic Brain Diseases 471
          glutaric acidemia I 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                glutaric acidemia I 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.