|OBO ID: DOID:0080958|
|Term Name:||primary hypoalphalipoproteinemia 2||Search Ontology:|
|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. https://pubmed.ncbi.nlm.nih.gov/29396262/|
|Ontology:||Human Disease (DOID:0080958)|
|is a type of:||
OTHER primary hypoalphalipoproteinemia 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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