Preferred Name | osteogenesis imperfecta type 3 | |
Synonyms |
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Definitions |
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
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ID |
http://purl.obolibrary.org/obo/DOID_0110339 |
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definition |
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
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imported from | ||
label |
osteogenesis imperfecta type 3 |
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prefixIRI |
DOID:0110339 |
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prefLabel |
osteogenesis imperfecta type 3 |
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subClassOf |
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