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Disease Ontology Browser
Tangier disease (DOID:1388)
Alliance: disease page
Synonyms: familial alpha-lipoprotein deficiency; familial high density lipoprotein deficiency
Alt IDs: OMIM:205400, ICD10CM:E78.6, MESH:D013631, NCI:C85182, UMLS_CUI:C0039292
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.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory