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DOID:12347 - osteogenesis imperfecta
Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Synonyms: Fragilitas ossium, Lobstein's syndrome, Osteopsathyrosis, Vrolik's disease, brittle bone disease,
Echinobase Genes
:
col1a2,
wnt1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)