Search Ontology:
Human Disease

osteogenesis imperfecta type 3

Term ID
DOID:0110339
Synonyms
  • OI3
  • osteogenesis imperfecta type III
  • progressively deforming osteogenesis imperfecta with normal sclera
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. (2)
References
Ontology
Human Disease   ( DOID:0110339 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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