Search Ontology:
Human Disease
osteogenesis imperfecta type 2
- Term ID
- DOID:0110341
- Synonyms
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- 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
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- GARD:10142
- ICD10CM:Q78.0
- MIM:166210
- Ontology
- Human Disease ( DOID:0110341 )
- is a type of
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