|
General Information
|
| Term |
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
ID (Ontology) |
DOID:0061186 (Human Disease) |
| 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. |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 | for disease ribbon | long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 | model of | long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 |
|
Relationships