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RGD uses the Human Disease Ontology (DO, 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:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
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Accession:DOID:9006234 term browser browse the term
Synonyms:exact_synonym: 3-Hydroxyl 3-Methyl Glutaric Aciduria;   3-hydroxy 3-methyl glutaric aciduria;   3-hydroxy-3-methylglutaric aciduria;   3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency;   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
 xref: NCI:C84523
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: HMGCL DEFICIENCY ClinVar NCBI chr 5:154,310,453...154,314,959
Ensembl chr 5:154,310,453...154,314,955
JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase
ClinVar Annotator: match by OMIM:246450
PMID:946337, PMID:7479590, PMID:8617516, PMID:8798725, PMID:9163320, PMID:9439591, PMID:9463337, PMID:9784232, PMID:10916782, PMID:11129331, PMID:11461194, PMID:12746442, PMID:14518825, PMID:15122894, PMID:15308132, PMID:15752612, PMID:16330550, PMID:16601870, PMID:17173698, PMID:17628222, PMID:17692550, PMID:19036343, PMID:19177531, PMID:19932602, PMID:22847177, PMID:23465862, PMID:25708061, PMID:25741868, PMID:28488182, PMID:28492532, PMID:28583327, PMID:28747690, PMID:30311386 NCBI chr 5:154,294,841...154,308,582
Ensembl chr 5:154,294,806...154,308,640
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
            3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 2
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
              3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.