Search Ontology:
Human Disease
osteogenesis imperfecta type 1
- Term ID
- DOID:0110334
- Synonyms
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- 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
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- GARD:8694
- MESH:D010013
- MIM:166200
- NCI:C99003
- ORDO:216796
- SNOMEDCT_US_2023_03_01:3508009
- UMLS_CUI:C0023931
- Ontology
- Human Disease ( DOID:0110334 )
- is a type of
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