OBO ID: DOID:0110339
Term Name: osteogenesis imperfecta type 3 Search Ontology:
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)
OTHER osteogenesis imperfecta type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL1A1 Osteogenesis imperfecta, type III 259420
COL1A2 Osteogenesis imperfecta, type III 259420
ZEBRAFISH MODELS
Fish Conditions Citations
col1a1adc124/+ standard conditions Gistelinck et al., 2018
PHENOTYPE No data available

CITATIONS (1)