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Experimental Factor Ontology
Last uploaded:
November 18, 2024
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| Preferred Name | apolipoprotein A-I deficiency | |
| Synonyms |
ApoA-I deficiency familial hypoalphalipoproteinemia familial apoA-I deficiency |
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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). Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0700136 |
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| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.
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| database_cross_reference |
Orphanet:425
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|
| 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 |
ApoA-I deficiency familial hypoalphalipoproteinemia familial apoA-I deficiency
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| label |
apolipoprotein A-I deficiency
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| preferred label |
apolipoprotein A-I deficiency
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| prefixIRI |
efo:EFO_0700136
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| prefLabel |
apolipoprotein A-I deficiency
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| subClassOf |
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