OBO ID: DOID:1388
Term Name: Tangier disease Search Ontology:
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 Tangier disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ABCA1 Tangier disease 205400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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