Search Ontology:
Human Disease
primary hypoalphalipoproteinemia 1
- Term ID
- DOID:0080957
- Synonyms
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- familial HDL deficiency
- Definition
- A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/
- References
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- GARD:2872
- MIM:604091
- ORDO:425
- Ontology
- Human Disease ( DOID:0080957 )
- is a type of
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Genes Involved
Zebrafish Models