Hyperalphalipoproteinemia

Preferred Label : Hyperalphalipoproteinemia;

NCIt synonyms : HALP1;

NCIt definition : An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.;

Details

Origin ID

C128806;

UMLS CUI

C0342883;

Currated CISMeF NLP mapping
- Hyperalphalipoproteinemia [PASCAL descriptor]
- Hyperalphalipoproteinemia [ORDO Disease]
- Hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hyperalphalipoproteinemia 1 [OMIM Phenotype]
- cholesteryl ester transfer protein deficiency [MeSH Supplementary Concept]
DO Cross reference
- hyperalphalipoproteinemia 1 [DO Concept]
See also inter- (CISMeF)
- Increased HDL cholesterol concentration [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholesterol-ester transfer protein deficiency [ORDO Disease]
- Hyperalphalipoproteinemia [ORDO Disease]
- Hyperalphalipoproteinemia (disorder) [SNOMED CT concept]
- Increased HDL cholesterol concentration [HPO term]
- cholesterol ester transfer protein deficiency [Disease (Nov.)]
- cholesteryl ester transfer protein deficiency [MeSH Supplementary Concept]
- cholesteryl ester transfer protein deficiency [MeSH concept]
- hyperalphalipoproteinemia 1 [DO Concept]
Validated automatic mappings to BTNT
- hyperalphalipoproteinemia 1 [DO Concept]
disease_mapped_to_gene
- CETP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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