ONTOLOGY REPORT - ANNOTATIONS


Term:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
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Accession:DOID:9006234 term browser browse the term
Synonyms:exact_synonym: 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency;   3-Hydroxyl 3-Methyl Glutaric Aciduria;   3-hydroxy 3-methyl glutaric aciduria;   3-hydroxy-3-methylglutaric aciduria;   Deficiency of Hydroxymethylglutaryl-CoA Lyase;   HL DEFICIENCY;   HMG CoA Lyase Deficiency;   HMGCL deficiency;   HMGCLD;   hydroxymethylglutaric aciduria
 primary_id: MESH:C538324
 alt_id: OMIM:246450;   RDO:0004287
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3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gale UDP-galactose-4-epimerase JBrowse link 5 154,310,453 154,314,959 RGD:8554872
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase JBrowse link 5 154,294,841 154,308,582 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 2
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