| Metadata | |
|---|---|
| ID | DOID:1388 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/10431236/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:190783007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial alpha-lipoprotein deficiency [EXACT] familial high density lipoprotein deficiency [EXACT] |
| Parent Relationships |
is_a hypolipoproteinemia |