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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | apolipoprotein A-I deficiency | |
| Synonyms |
familial apoA-I deficiency ApoA-I deficiency familial hypoalphalipoproteinemia |
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| Definitions |
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100189 |
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| altLabel |
familial apoA-I deficiency ApoA-I deficiency familial hypoalphalipoproteinemia
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| created_by | ||
| definition |
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
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| has_exact_synonym |
familial apoA-I deficiency ApoA-I deficiency familial hypoalphalipoproteinemia
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| label |
apolipoprotein A-I deficiency
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| prefixIRI |
MONDO:0100189
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| prefLabel |
apolipoprotein A-I deficiency
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| textual definition |
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
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| subClassOf |
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