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Disease Ontology Browser
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (DOID:0061186)
Alliance: disease page
Alt IDs: OMIM:609016, ORDO:5
Definition: A lipid metabolism disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death that has_material_basis_in homozygous or compound heterozygous mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase. The effect of the mutation on enzyme activity results solely from a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase.

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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08/05/2025
MGI 6.24 		The Jackson Laboratory