RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS.
ClinVar Annotator: match by term: Fish-eye disease | ClinVar Annotator: match by term: LCAT deficiency | ClinVar Annotator: match by term: Norum disease
DNA:mutations: : ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1
ClinVar Annotator: match by term: APOLIPOPROTEIN A-I (BALTIMORE) | ClinVar Annotator: match by term: Apolipoprotein A-I deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2
ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Tangier disease CTD Direct Evidence: marker/mechanism DNA:mutations: :
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