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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 MIM:143470 NCI:C128806 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