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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

GARD:7731

ICD10CM:E78.6

MESH:D013631

NCI:C85182

OMIM:205400

SNOMEDCT_US_2023_03_01:190783007

UMLS_CUI:C0039292

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

familial alpha-lipoprotein deficiency [EXACT]

familial high density lipoprotein deficiency [EXACT]

Parent Relationships

is_a hypolipoproteinemia

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