Disease (ORPHA:220386):
Semilobar holoprosencephaly

Associated phenotypes (HPO):
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病
id: HP:0006979
hpo_term: Sleep-wake cycle disturbance
chpo_term: 睡眠-觉醒周期紊乱
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007301
hpo_term: Oromotor apraxia
chpo_term: 口部失用
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010654
hpo_term: Aplasia of the falx cerebri
chpo_term: 大脑镰发育缺陷
id: HP:0011442
hpo_term: Abnormal central motor function
chpo_term: 中枢性运动功能异常
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0012285
hpo_term: Abnormal hypothalamus physiology
chpo_term: 下丘脑生理异常
id: HP:0040327
hpo_term: Abnormal morphology of the olfactory bulb
chpo_term: 嗅球形态异常
id: HP:0045005
hpo_term: Neural tube defect
chpo_term: 神经管缺损
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000871
hpo_term: Panhypopituitarism
chpo_term: 全垂体功能减退
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009914
hpo_term: Cyclopia
chpo_term: 独眼
id: HP:0009932
hpo_term: Single naris
chpo_term: 单鼻孔
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0011787
hpo_term: Central hypothyroidism
chpo_term: 中枢性甲状腺功能减退症
id: HP:0012718
hpo_term: Morphological abnormality of the gastrointestinal tract
chpo_term: 胃肠道形态异常
id: HP:0012806
hpo_term: Proboscis
chpo_term: 管状鼻
id: HP:0031860
hpo_term: Abnormal heart rate variability
chpo_term: 心率变异性异常
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常