high bone mass syndrome

GPTKB entity

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