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
  • GARD:7731
  • ICD10CM:E78.6
  • MESH:D013631
  • MIM:205400
  • NCI:C85182
  • SNOMEDCT_US_2023_03_01:190783007
  • UMLS_CUI:C0039292
Ontology
Human Disease   ( DOID:1388 )
Relationships
is a type of
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Genes Involved
Zebrafish Models