loading...| Preferred Name |
osteogenesis imperfecta type 3 |
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| Synonyms |
osteogenesis imperfecta type III progressive deforming osteogenesis imperfecta OI type 3 progressively deforming osteogenesis imperfecta with normal sclera OI3 severe osteogenesis imperfecta osteogenesis imperfecta type 3 osteogenesis imperfecta, progressively deforming with normal sclerae osteogenesis imperfecta, type 3 OI, type 3 osteogenesis imperfecta, progressively deforming, with normal sclerae OI type III osteogenesis imperfecta, type III Oi3 progressively deforming OI |
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| Definitions |
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009804 |
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| has_exact_synonym |
osteogenesis imperfecta type III progressive deforming osteogenesis imperfecta OI type 3 progressively deforming osteogenesis imperfecta with normal sclera OI3 severe osteogenesis imperfecta osteogenesis imperfecta type 3 |
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| has_related_synonym |
osteogenesis imperfecta, progressively deforming with normal sclerae osteogenesis imperfecta, type 3 OI, type 3 osteogenesis imperfecta, progressively deforming, with normal sclerae OI type III osteogenesis imperfecta, type III Oi3 progressively deforming OI |
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| IAO_0000233 | ||
| label |
osteogenesis imperfecta type 3 |
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| prefixIRI |
MONDO:0009804 |
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| prefLabel |
osteogenesis imperfecta type 3 |
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| textual definition |
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). |
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| subClassOf |