Search Ontology:
Human Disease

Tangier disease

Term ID
DOID:1388
Synonyms
  • familial alpha-lipoprotein deficiency
  • familial high density lipoprotein deficiency
  • familial hypoalphalipoproteinemia
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. https://pubmed.ncbi.nlm.nih.gov/10431236/
References
Ontology
Human Disease   ( DOID:1388 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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