High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6

Preferred Label : High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6;

NCIt synonyms : HDLCQ6; High Density Lipoprotein Cholesterol Level QTL6;

NCIt definition : A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1.;

Details

Origin ID

C168987;

UMLS CUI

C1853096;

Currated CISMeF NLP mapping
- High density lipoprotein cholesterol level quantitative trait locus 6 [OMIM Phenotype]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- High density lipoprotein cholesterol level quantitative trait locus 6 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SCARB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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