Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive (OSMEDB)

常染色体隐性耳-脊椎-骨骺增生性发育不良(来自ICD-11)

别称:

Osmed

Otospondylomegaepiphyseal Dysplasia

Chondrodystrophy with Sensorineural Deafness

Nance-Sweeney Chondrodysplasia

Nance-Insley Syndrome

Osmedb

Mega-Epiphyseal Dwarfism

Insley-Astley Syndrome

Weissenbacher-Zweymuller Syndrome, Formerly

Oto-Spondylo-Megaepiphyseal Dysplasia

Megaepiphyseal Dwarfism

Osmed Syndrome

Wzs, Formerly

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, 也被称为 osmed，与 otospondylomegaepiphyseal dysplasia, autosomal dominant 和 sensorineural hearing loss 有关，其症状包括 arthralgia。与 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 关联的重要基因是 COL11A2 (Collagen Type XI Alpha 2 Chain)，其相关通路/超通路包括 Integrin Pathway 和 Phospholipase-C Pathway。相关组织包括骨和心脏，相关表型包括 depressed nasal bridge 和 abnormal vertebral morphology。

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