Osteogenesis Imperfecta, Type Xii (OI12)

Osteogenesis Imperfecta, Type Xii(来自ICD-11)
别称:
Osteogenesis Imperfecta Type 12
Oi12
Osteogenesis Imperfecta Type Xii
Osteogenesis Imperfecta Sillence Type Iii
Osteogenesis Imperfecta 12
Oi, Type Xii
Oi Type Xii
Oi-Xii
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Osteogenesis Imperfecta, Type Xii, also known as osteogenesis imperfecta type 12, is related to brittle bone disorder and bruck syndrome. An important gene associated with Osteogenesis Imperfecta, Type Xii is SP7 (Sp7 Transcription Factor), and among its related pathways/superpathways is Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone and heart, and related phenotypes are scoliosis and pectus carinatum
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MALACARDS
AR
Unknown
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16
75
10

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