OBO ID: DOID:0080958
Term Name: primary hypoalphalipoproteinemia 2 Search Ontology:
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. https://pubmed.ncbi.nlm.nih.gov/29396262/
References:
Ontology: Human Disease   (DOID:0080958)
OTHER primary hypoalphalipoproteinemia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
APOA1 ApoA-I and apoC-III deficiency, combined 618463
Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding 618463
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None