Disease (OMIM:603671):
ACROMELIC FRONTONASAL DYSOSTOSIS
Acromelic frontonasal dysostosis

Associated phenotypes (HPO):
id: HP:0001331
hpo_term: Absent septum pellucidum
chpo_term: 透明隔缺如
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0011819
hpo_term: Submucous cleft soft palate
chpo_term: 粘膜下软腭裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004122
hpo_term: Midline defect of the nose
chpo_term: 鼻中线缺陷
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011803
hpo_term: Bifid nose
chpo_term: 鼻裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005462
hpo_term: Calcification of falx cerebri
chpo_term: 大脑镰钙化
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0010559
hpo_term: Vertical clivus
chpo_term: 斜坡垂直
id: HP:0002190
hpo_term: Choroid plexus cyst
chpo_term: 脉络丛囊肿
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0034199
hpo_term: Late first trimester onset
chpo_term: 孕早期晚期起病
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0006866
hpo_term: Midline central nervous system lipomas
chpo_term: 中线中枢神经系统脂肪瘤
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:6000295
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0100629
hpo_term: Midline facial cleft
chpo_term: 面中裂
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002690
hpo_term: Large sella turcica
chpo_term: 大蝶鞍
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0032466
hpo_term: Aplasia of the olfactory bulb
chpo_term: 嗅球不发育
id: HP:6000787
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0034014
hpo_term: Tubulonodular pericallosal lipoma
chpo_term: 管状结节性胼胝体周围脂肪瘤
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0025706
hpo_term: Absent fetal nasal bone
chpo_term: 胎儿鼻骨缺如
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0004987
hpo_term: Mesomelic leg shortening
chpo_term: 腿中段缩短
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视