Tangier Disease
Disease ID: disease_node_7280
Connections displayed (default: 10).
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| Dbxref | GARD:7731, ICD10CM:E78.6, MESH:D013631, MIM:205400, NCI:C85182, SNOMEDCT_US_2023_03_01:190783007, UMLS_CUI:C0039292 |
|---|---|
| Subclassof | DOID_1387 |
| Data Source | DOID, MESH |
| Synonyms | familial alpha-lipoprotein deficiency, familial high density lipoprotein deficiency |
| Mesh Id | D013631 |
| Mesh Label | Tangier Disease |
| Mesh Subclassof | D052456, D011115 |
| Doid Label | Tangier disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [LS]. |
| Disease Node Id | disease_node_7280 |
| Doid Id | DOID_1388 |
| Label | Tangier Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Hypolipoproteinemias(ID:disease_node_4190) (Disease)