loading...| Preferred Name | Tangier disease | |
| Synonyms |
familial high density lipoprotein deficiency familial alpha-lipoprotein deficiency |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1388 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| alternative label |
familial high density lipoprotein deficiency familial alpha-lipoprotein deficiency |
|
| database_cross_reference |
MESH:D013631 UMLS_CUI:C0039292 ICD10CM:E78.6 SNOMEDCT_US_2023_03_01:190783007 GARD:7731 MIM:205400 NCI:C85182 |
|
| 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. |
|
| has exact match |
MESH:D013631 |
|
| has exact synonym |
familial high density lipoprotein deficiency familial alpha-lipoprotein deficiency |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1388 |
|
| in_subset | ||
| label |
Tangier disease |
|
| notation |
DOID:1388 |
|
| prefLabel |
Tangier disease |
|
| subClassOf |