Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0110334 - osteogenesis imperfecta type 1

Disease Ontology Definition:An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Synonyms: osteogenesis imperfecta type I, OI1

Xenbase Genes : col1a2, col1a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008146 - osteogenesis imperfecta type 1

MIM:
MIM:166200 - OSTEOGENESIS IMPERFECTA, TYPE I; OI1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal dominant disease (is_a), osteogenesis imperfecta (is_a)