学因网基因：BGN；
与BGN基因相关的CHPO中文疾病症状表型：鸡胸,短长骨,短足,干骺端融合的锥形骨骺,短掌,扁平椎,干骺端不规则,腰椎前凸过度,手桡侧偏斜,X-连锁隐性遗传,喇叭状髂骨翼,髋外翻,长尺骨,长骨骨干变宽,胸11椎体前部楔形,上颌骨发育不全,齿状突发育不全,手指的短指骨,短掌骨,V形/圆锥形桡骨骨骺,腕骨骨化延迟,掌骨变宽,扁平髋臼顶,突出的尺骨茎突,指（趾）骨增宽,手指骨锥形骨骺,杯状后肋,腓骨长,短指畸形综合征,第12胸椎体前侧楔形,短锁骨,伸肘受限,脊椎干骺端发育不良,脊柱后凸畸形（驼背）,骨盆狭窄,不成比例的短躯干性矮小,掌骨锥形骨骺；
与BGN基因相关的HPO英文疾病症状表型：Pectus carinatum,Short long bone,Short foot,Cone-shaped epiphyses fused within their metaphyses,Short palm,Platyspondyly,Metaphyseal irregularity,Lumbar hyperlordosis,Radial deviation of the hand,X-linked recessive inheritance,Flared iliac wings,Coxa valga,Long ulna,Broad long bone diaphyses,Anterior wedging of T11,Hypoplasia of the maxilla,Hypoplasia of the odontoid process,Short phalanx of finger,Short metacarpal,Cone-shaped distal radial epiphysis,Delayed ossification of carpal bones,Broad metacarpals,Flat acetabular roof,Prominent styloid process of ulna,Broad phalanx,Cone-shaped epiphyses of the phalanges of the hand,Posterior rib cupping,Long fibula,Brachydactyly,Anterior wedging of T12,Short clavicles,Limited elbow extension,Spondyloepimetaphyseal dysplasia,Kyphosis,Narrow pelvis bone,Disproportionate short-trunk short stature,Cone-shaped metacarpal epiphyses；
HPO相关编号:HP:0000768,HP:0003026,HP:0001773,HP:0005066,HP:0004279,HP:0000926,HP:0003025,HP:0002938,HP:0009486,HP:0001419,HP:0002869,HP:0002673,HP:0003988,HP:0006371,HP:0004573,HP:0000327,HP:0003311,HP:0009803,HP:0010049,HP:0004000,HP:0001216,HP:0001230,HP:0003180,HP:0004981,HP:0006009,HP:0010230,HP:0000922,HP:0003085,HP:0001156,HP:0011940,HP:0000894,HP:0001377,HP:0002651,HP:0002808,HP:0003275,HP:0003521,HP:0006059；
相关病症数据库编号：OMIM:300106；
相关病症中文名：迟发性脊椎干骺端发育不良X 连锁；
相关病症英文名：SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX；
*遗传方式：XLR；
* 遗传方式介绍：AD：常染色体显性遗传；AR：常染色体隐性遗传；XLD：X-连锁显性遗传；XLR：X-连锁隐性遗传；DD：双基因显性遗传；DR：双基因隐性遗传；Mi：线粒体遗传。
已知的研究表明：该种基因BGN往往会有以下的表型：鸡胸,短长骨,短足,干骺端融合的锥形骨骺,短掌,扁平椎,干骺端不规则,腰椎前凸过度,手桡侧偏斜,X-连锁隐性遗传,喇叭状髂骨翼,髋外翻,长尺骨,长骨骨干变宽,胸11椎体前部楔形,上颌骨发育不全,齿状突发育不全,手指的短指骨,短掌骨,V形/圆锥形桡骨骨骺,腕骨骨化延迟,掌骨变宽,扁平髋臼顶,突出的尺骨茎突,指（趾）骨增宽,手指骨锥形骨骺,杯状后肋,腓骨长,短指畸形综合征,第12胸椎体前侧楔形,短锁骨,伸肘受限,脊椎干骺端发育不良,脊柱后凸畸形（驼背）,骨盆狭窄,不成比例的短躯干性矮小,掌骨锥形骨骺。以往此类疾病多以临床表型、生化检测、神经影像学检测等手段进行诊断，程序繁琐复杂，且不能从根本的致病原因上做出明确诊断。随着人类基因组计划的完成和高通量测序技术的普遍应用，利用最先进的基因检测技术，我们已可以从基因水平对该迟发性脊椎干骺端发育不良X 连锁进行致病基因BGN的基因检测，知道了携带的致病基因，才能加强辅助临床随诊，让医生的诊治更准确。
