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DO Term : hyperalphalipoproteinemia 1 [DOID:0111369] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:143470,
  • 143470,
  • MESH:C564591,
  • SNOMEDCT_US_2023_03_01:238080004,
  • HALP1,
  • UMLS_CUI:C0342883,
  • NCI:C128806
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Disease

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Ontology

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