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primary hypoalphalipoproteinemia 2
Summary
- Synonym
-
- Apolipoprotein A-I deficiency
- Definition
- A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.
- Super Class
- hypolipoproteinemia
External Links
- Disease Ontology
- DOID:0080958
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
