学因网基因：APC；
与APC基因相关的CHPO中文疾病症状表型：短肢,甲状腺功能减退症,短鼻,桡骨发育低下,喉软骨软化,手并指,听力障碍,下斜睑裂,趾甲缺损,眼距过宽,脚趾并趾畸形,肾发育不良/不全,皮纹异常,招风耳,眼睑外翻,前额突出,肋骨异常,尺桡骨性融合,腕骨的骨性连合,人中短,髋关节脱位,短拇指,凸鼻嵴,肘关节脱位,指甲缺损,少趾畸形,眼球突出,尺骨发育低下,眼球震颤,牙釉质异常,上睑下垂,掌骨异常,融合肾移向一侧,缺牙症,腭高而窄,椎体形态异常,扁平颧突,白内障,脊柱侧弯；
与APC基因相关的HPO英文疾病症状表型：Micromelia,Hypothyroidism,Short nose,Hypoplasia of the radius,Laryngomalacia,Finger syndactyly,Hearing impairment,Downslanted palpebral fissures,Absent toenail,Hypertelorism,Toe syndactyly,Renal hypoplasia/aplasia,Abnormal dermatoglyphics,Protruding ear,Ectropion,Frontal bossing,Abnormality of the ribs,Radioulnar synostosis,Synostosis of carpal bones,Short philtrum,Hip dislocation,Short thumb,Convex nasal ridge,Elbow dislocation,Absent fingernail,Foot oligodactyly,Proptosis,Hypoplasia of the ulna,Nystagmus,Abnormality of dental enamel,Ptosis,Abnormality of the metacarpal bones,Crossed fused renal ectopia,Hypodontia,High, narrow palate,Abnormal form of the vertebral bodies,Malar flattening,Cataract,Scoliosis；
HPO相关编号:HP:0002983,HP:0000821,HP:0003196,HP:0002984,HP:0001601,HP:0006101,HP:0000365,HP:0000494,HP:0001802,HP:0000316,HP:0001770,HP:0008678,HP:0007477,HP:0000411,HP:0000656,HP:0002007,HP:0000772,HP:0002974,HP:0005048,HP:0000322,HP:0002827,HP:0009778,HP:0000444,HP:0003042,HP:0001817,HP:0001849,HP:0000520,HP:0003022,HP:0000639,HP:0000682,HP:0000508,HP:0001163,HP:0004736,HP:0000668,HP:0002705,HP:0003312,HP:0000272,HP:0000518,HP:0002650；
相关病症数据库编号：ORPHA:3258；
相关病症中文名：；
相关病症英文名：；
*遗传方式：；
* 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APC往往会有以下的表型：短肢,甲状腺功能减退症,短鼻,桡骨发育低下,喉软骨软化,手并指,听力障碍,下斜睑裂,趾甲缺损,眼距过宽,脚趾并趾畸形,肾发育不良/不全,皮纹异常,招风耳,眼睑外翻,前额突出,肋骨异常,尺桡骨性融合,腕骨的骨性连合,人中短,髋关节脱位,短拇指,凸鼻嵴,肘关节脱位,指甲缺损,少趾畸形,眼球突出,尺骨发育低下,眼球震颤,牙釉质异常,上睑下垂,掌骨异常,融合肾移向一侧,缺牙症,腭高而窄,椎体形态异常,扁平颧突,白内障,脊柱侧弯。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进行致病基因APC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。
