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DO Term : primary hypoalphalipoproteinemia 2 [DOID:0080958] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 618463,
  • OMIM:618463,
  • Apolipoprotein A-I deficiency,
  • GARD:758,
  • ORDO:425
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