Term Name:	primary hypoalphalipoproteinemia 2
Synonyms:	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.
Ontology:	Human Disease [DOID:0080958]   ( DOID:0080958 )