Preferred Name | Osteogenesis Imperfecta | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteogenesis_Imperfecta |
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DEFINITION |
A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. |
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isDefinedBy |
A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. |
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label |
Osteogenesis Imperfecta |
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prefixIRI |
Thesaurus:Osteogenesis_Imperfecta |
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prefLabel |
Osteogenesis Imperfecta |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Non-Neoplastic_Bone_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#COL1A1_Associated_Connective_Tissue_Disorder |