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Metadata
ID DOID:0111369
Name hyperalphalipoproteinemia 1
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 CETP gene on chromosome 16q13.
https://www.ncbi.nlm.nih.gov/pubmed/2215607, https://www.ncbi.nlm.nih.gov/pubmed/6738363
Xrefs

MESH:C564591

NCI:C128806

OMIM:143470

SNOMEDCT_US_2023_03_01:238080004

UMLS_CUI:C0342883

Subsets

NCIthesaurus

Synonyms

HALP1 [EXACT]

Parent Relationships

is_a cholesterol-ester transfer protein deficiency

is_a autosomal dominant disease

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