Coronary artery disease, autosomal dominant 2

Preferred Label : Coronary artery disease, autosomal dominant 2;

Symbol : ADCAD2;

CISMeF acronym : ADCAD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein-6 gene (LRP6, 603507.0001);

Prefixed ID : #610947;

Details

Origin ID

610947;

UMLS CUI

C1970440;

Automatic exact mappings (from CISMeF team)
- LDL receptor related protein 6 [ORDO Gene]
- LDL receptor related protein 6 [HGNC gene]
- LRP6 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- coronary artery disease, autosomal dominant 2 [MeSH concept]
- coronary artery disease, autosomal dominant 2 [MeSH Supplementary Concept]
DO Cross reference
- coronary artery disease [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Glucose intolerance [HPO term]
- Gout [HPO term]
- Hypercholesterolemia [HPO term]
- Hyperlipidemia [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Impaired glucose tolerance [HPO term]
- Myocardial infarction [HPO term]
- Osteoporosis [HPO term]
- Sudden cardiac death [HPO term]
- obsolete Glucose intolerance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- coronary artery disease, autosomal dominant 2 [MeSH Supplementary Concept]
- coronary artery disease, autosomal dominant 2 [MeSH concept]

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