Search Ontology:
Human Disease

osteogenesis imperfecta type 1

Term ID
DOID:0110334
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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