Mondo Disease Ontology

Last uploaded: May 9, 2024
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Preferred Name

obsolete apolipoprotein A-I deficiency
Synonyms

familial apoA-I deficiency

ApoA-I deficiency

familial hypoalphalipoproteinemia
Definitions

OBSOLETE. 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).
ID

http://purl.obolibrary.org/obo/MONDO_0100189
Obsolete

true
creator

https://orcid.org/0000-0001-5208-3432
database_cross_reference

Orphanet:425

GARD:2872
definition

OBSOLETE. 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).
deprecated

true
exactMatch

http://purl.obolibrary.org/obo/Orphanet_425
has_exact_synonym

familial apoA-I deficiency

ApoA-I deficiency

familial hypoalphalipoproteinemia
IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6750

https://github.com/monarch-initiative/mondo/issues/5114
id

MONDO:0100189
in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare
label

obsolete apolipoprotein A-I deficiency
notation

MONDO:0100189
prefLabel

obsolete apolipoprotein A-I deficiency
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