Disease (OMIM:616462):
Acrofacial dysostosis, Cincinnati type
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002389
hpo_term: Cavum septum pellucidum
chpo_term: 第五脑室
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0034260
hpo_term: Aplastic zygomatic arch
chpo_term: 颧弓发育不全
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0000636
hpo_term: Upper eyelid coloboma
chpo_term: 上眼睑缺损
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0011639
hpo_term: Anomalous origin of right coronary artery from the pulmonary artery
chpo_term: 肺动脉源性右冠状动脉起源异常
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0004937
hpo_term: Pulmonary artery aneurysm
chpo_term: 肺动脉瘤
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0002410
hpo_term: Aqueductal stenosis
chpo_term: 中脑导水管狭窄
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0200128
hpo_term: Biventricular hypertrophy
chpo_term: 双心室肥厚
id: HP:0012712
hpo_term: Mild hearing impairment
chpo_term: 轻度听力损失
id: HP:0011224
hpo_term: Ablepharon
chpo_term: 无睑畸形
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0011577
hpo_term: Partial atrioventricular canal defect
chpo_term: 部分房室管缺损
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0034185
hpo_term: Median pseudocleft lip
chpo_term: 假性正中唇裂
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0011443
hpo_term: Abnormality of coordination
chpo_term: 协调异常
id: HP:0030307
hpo_term: Flared lower limb metaphysis
chpo_term: 下肢喇叭状干骺端
id: HP:0011569
hpo_term: Cleft anterior mitral valve leaflet
chpo_term: 二尖瓣前叶裂
id: HP:0009892
hpo_term: Anotia
chpo_term: 无耳畸形
id: HP:0011330
hpo_term: Metopic synostosis
chpo_term: 额缝早闭
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0002835
hpo_term: Aspiration
chpo_term: 误吸
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
id: HP:0000652
hpo_term: Lower eyelid coloboma
chpo_term: 下眼睑缺损
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009110
hpo_term: Diaphragmatic eventration
chpo_term: 膈肌缺陷
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0004502
hpo_term: Bilateral choanal atresia
chpo_term: 双侧后鼻孔闭锁