Statements (16)
Predicate | Object |
---|---|
gptkbp:instanceOf |
medical condition
|
gptkbp:affects |
skeletal system
|
gptkbp:alsoKnownAs |
HBM syndrome
|
gptkbp:cause |
mutations in LRP5 gene
mutations in SOST gene |
gptkbp:characterizedBy |
increased bone density
|
gptkbp:diagnosedBy |
bone density scan
|
gptkbp:firstDescribed |
2002
|
https://www.w3.org/2000/01/rdf-schema#label |
high bone mass syndrome
|
gptkbp:inheritance |
autosomal dominant trait
|
gptkbp:relatedTo |
gptkb:osteopetrosis
sclerosteosis |
gptkbp:symptom |
bone pain
nerve compression |
gptkbp:bfsParent |
gptkb:LRP5
|
gptkbp:bfsLayer |
8
|