OBO ID: DOID:0080958 |
Term Name: | primary hypoalphalipoproteinemia 2 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0080958 ) |
OTHER primary hypoalphalipoproteinemia 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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