| Metadata | |
|---|---|
| ID | DOID:0080958 |
| Name | primary hypoalphalipoproteinemia 2 |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Apolipoprotein A-I deficiency [EXACT] |
| Parent Relationships |
is_a hypolipoproteinemia |