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DOID:0110339 - osteogenesis imperfecta type 3
Disease Ontology Definition:An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Synonyms: OI3, osteogenesis imperfecta type III, progressively deforming osteogenesis imperfecta with normal sclera
| OMIM:259420 - OSTEOGENESIS IMPERFECTA, TYPE III; OI3 |
| MONDO:0009804 - osteogenesis imperfecta type 3 |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes
:
bmp1,
wnt1,
creb3l1,
col1a2,
ppib,
serpinf1,
p3h1,
serpinh1,
fkbp10,
crtap,
col1a1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s):
osteogenesis imperfecta (is_a)