Version: 8.1.0
Date: Fri Apr 18 2025
Tangier disease
DOID:1388
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Tangier disease

Definition
A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
Synonyms
  • familial alpha-lipoprotein deficiency
  • familial high density lipoprotein deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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