low density lipoprotein receptor

Preferred Label : low density lipoprotein receptor;

Approved symbol HGNC : LDLR;

Name synonyms HGNC : familial hypercholesterolemia;

Alias symbols HGNC : LDLCQ2;

Chromosome HGNC : 19p13.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000130164;

Details

Origin ID

HGNC:6547;

UMLS CUI

C1366529;

Automatic exact mappings (from CISMeF team)
- Familial hypercholesterolemia [MedDRA LLT]
- Familial hypercholesterolemia [ORDO Disease]
- Familial hypercholesterolemia (disorder) [SNOMED CT concept]
- Hypercholesterolemia, familial [OMIM phenotypic series]
- Hyperlipoproteinemia, Type IIa [NCIt concept]
- Low density lipoprotein receptor [OMIM gene]
- Low density lipoprotein receptor (substance) [SNOMED CT concept]
- Low-Density Lipoprotein Receptor [NCIt concept]
- cholesterol [MedlinePlus Topic]
- cholesterol levels: what you need to know [MedlinePlus Topic]
- familial hypercholesterolemia [SNOMED Notion]
- familial hypercholesterolemia [DO Concept]
- hyperlipoproteinemia type ii [MeSH Descriptor]
- low density lipoprotein receptor [ORDO Gene]
- receptors, LDL [MeSH Descriptor]
NCIt concept
- LDLR Gene [NCIt concept]
OMIM gene
- Low density lipoprotein receptor [OMIM gene]
Orphanet gene
- low density lipoprotein receptor [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- LDLR Gene [NCIt concept]
- LDLR gene [LOINC component]
- Low density lipoprotein receptor [OMIM gene]
- Low density lipoprotein receptor gene (substance) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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