Disease (ORPHA:97297):
Bohring-Opitz syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
BOS syndrome
C-like syndrome
Bohring syndrome

Associated phenotypes (HPO):
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0006471
hpo_term: Fixed elbow flexion
chpo_term: 肘关节曲位固定
id: HP:0006863
hpo_term: Severe expressive language delay
chpo_term: 严重的表达性语言发育延迟
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010733
hpo_term: Naevus flammeus of the eyelid
chpo_term: 眼睑鲜红斑痣
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012537
hpo_term: Food intolerance
chpo_term: 食物不耐受
id: HP:0040082
hpo_term: Happy demeanor
chpo_term: 快乐举止
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006070
hpo_term: Metacarpophalangeal joint contracture
chpo_term: 掌指关节挛缩
id: HP:0010291
hpo_term: Prominent palatine ridges
chpo_term: 腭嵴突出
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012453
hpo_term: Bilateral wrist flexion contracture
chpo_term: 双侧腕关节弯曲挛缩
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0002885
hpo_term: Medulloblastoma
chpo_term: 髓母细胞瘤