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Echinobase
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: OI1, osteogenesis imperfecta type I,

Echinobase Genes :


OMIM:
MIM:166200 - osteogenesis imperfecta, type i

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

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