Osteogenesis Imperfecta, Type Xvi (OI16)

Alias:

Osteogenesis Imperfecta Type 16

Oi16

Osteogenesis Imperfecta Type Xvi

Oi, Type Xvi

Chromosome 11p11.2 Deletion Syndrome, 91.3-Kb

Chromosome 11p11.2 Deletion Syndrome 91.3-Kb

Osteogenesis Imperfecta 16

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteogenesis Imperfecta, Type Xvi, is also known as osteogenesis imperfecta type 16. An important gene associated with Osteogenesis Imperfecta, Type Xvi is CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1), and among its related pathways/superpathways is MAPK-Erk Pathway. Affiliated tissues include bone and skin, and related phenotypes are bowing of the long bones and short stature

Related ID：

MALACARDS：OST139

OMIM：616229

MESH：D010013