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Metadata
ID DOID:0111370
Name apolipoprotein C-III deficiency
Definition A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3.
https://www.ncbi.nlm.nih.gov/pubmed/2022742
Xrefs

MESH:C566270

OMIM:614028

Synonyms

HALP2 [EXACT]

hyperalphalipoproteinemia 2 [EXACT]

Parent Relationships

is_a cholesterol-ester transfer protein deficiency

is_a autosomal dominant disease

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