OBO ID: DOID:0110341
Term Name: osteogenesis imperfecta type 2 Search Ontology:
Synonyms:
  • OI2
  • osteogenesis imperfecta type II
  • perinatal lethal osteogenesis imperfecta congenita
  • Vrolik type of osteogenesis imperfecta
Definition: An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (2)
References:
Ontology: Human Disease   (DOID:0110341)
OTHER osteogenesis imperfecta type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL1A1 Osteogenesis imperfecta, type II 166210
COL1A2 Osteogenesis imperfecta, type II 166210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None