OBO ID: DOID:0110334
Term Name: osteogenesis imperfecta type 1 Search Ontology:
Synonyms:
  • OI1
  • osteogenesis imperfecta type I
Definition: An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/2873381
References:
Ontology: Human Disease   (DOID:0110334)
OTHER osteogenesis imperfecta type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL1A1 Osteogenesis imperfecta, type I 166200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None