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DO Term : Tangier disease [DOID:1388] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:190783007,
  • MESH:D013631,
  • familial alpha-lipoprotein deficiency,
  • 205400,
  • ICD10CM:E78.6,
  • UMLS_CUI:C0039292,
  • NCI:C85182,
  • GARD:7731,
  • familial high density lipoprotein deficiency,
  • OMIM:205400
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents