Search Ontology:
Human Disease
osteogenesis imperfecta type 12
- Term ID
- DOID:0110348
- Synonyms
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- OI12
- osteogenesis imperfecta type XII
- Definition
- An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/20579626
- References
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- ICD10CM:Q78.0
- MIM:613849
- Ontology
- Human Disease ( DOID:0110348 )
- is a type of
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