Search Ontology:
Human Disease
osteogenesis imperfecta type 8
- Term ID
- DOID:0110336
- Synonyms
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- OI8
- osteogenesis imperfecta type VIII
- Definition
- An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/17277775
- References
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- GARD:10152
- ICD10CM:Q78.0
- MIM:610915
- Ontology
- Human Disease ( DOID:0110336 )
- is a type of
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