Osteogenesis imperfecta
cv_term_accession
KW-1065
canonical
uniprot_keyword
KW-1065
canonical
name
Osteogenesis imperfecta
uniprot
synonym
Brittle bone disease
uniprot
synonym
Fragilitas ostium
uniprot
synonym
Glass bone disease
uniprot
synonym
Lobstein disease
uniprot
synonym
Lobstein's disease
uniprot
definition
Protein which, if defective, causes osteogenesis imperfecta, a bone disorder characterized by low bone mass, and brittle, osteoporotic and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords