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Disease Ontology Browser
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (DOID:0070541)
Alliance: disease page
Synonyms: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency; HL deficiency; HMG-CoA lyase deficiency; HMGCL deficiency; HMGCLD; hydroxymethylglutaric aciduria
Alt IDs: MESH:C538324, NCI:C84523, OMIM:246450, ORDO:20, UMLS_CUI:C0268601
Definition: An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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06/12/2024
MGI 6.13 		The Jackson Laboratory