Disease

Pierre Robin Syndrome

About the Disease
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and cleft palate, isolated, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Temazepam and D-Threonine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are sensorineural hearing impairment and cleft palate

Common Targets
MED13L | RBM10 | BMP2 | TGDS | BMPR1B | DNAH10

疾病靶点研报
Pierre Robin Syndrome

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