Bone mineral density quantitative trait locus 1

Preferred Label : Bone mineral density quantitative trait locus 1;

Symbol : BMND1;

CISMeF acronym : BMND1; HBM;

Type : Phenotype, molecular basis known;

Included titles and symbols : High bone mass; Osteoporosis, susceptibility to; HBM;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0013);

Prefixed ID : #601884;

Details

Origin ID

601884;

UMLS CUI

C1866079;

Automatic exact mappings (from CISMeF team)
- HBM Gene [NCIt concept]
- Hemoglobin Subunit Mu [NCIt concept]
- LDL receptor related protein 5 [ORDO Gene]
- LDL receptor related protein 5 [HGNC gene]
- LRP5 wt Allele [NCIt concept]
False automatic mappings
- Health Belief Model [MeSH Descriptor]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 5 [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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