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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: brittle bone disease, Fragilitas ossium, Lobstein's syndrome, Osteopsathyrosis, Vrolik's disease
Xenbase Genes
:
bmp1,
wnt1,
creb3l1,
col1a2,
p4hb,
ppib,
serpinf1,
mbtps2,
sp7,
p3h1,
ifitm5,
sec24d,
serpinh1,
fkbp10,
sparc,
| MONDO:0019019 - osteogenesis imperfecta |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)