Disease (OMIM:619539):
NEUROOCULAR SYNDROME 1
Neuroocular syndrome

Associated phenotypes (HPO):
id: HP:0001212
hpo_term: Prominent fingertip pads
chpo_term: 指尖垫突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0100694
hpo_term: Tibial torsion
chpo_term: 胫骨扭转
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0010296
hpo_term: Ankyloglossia
chpo_term: 舌系带短缩
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0009900
hpo_term: Unilateral deafness
chpo_term: 单侧耳聋
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
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:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0031354
hpo_term: Sleep onset insomnia
chpo_term: 入睡困难型失眠
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012775
hpo_term: Stellate iris
chpo_term: 星状虹膜
id: HP:0030822
hpo_term: Hooded upper eyelid
chpo_term: 上眼睑悬垂
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
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:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100786
hpo_term: Hypersomnia
chpo_term: 过度睡眠
id: HP:0100789
hpo_term: Torus palatinus
chpo_term: 腭隆凸
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001088
hpo_term: Brushfield spots
chpo_term: Brushfield点
id: HP:0007968
hpo_term: Remnants of the hyaloid vascular system
chpo_term: 玻璃体血管系统残留
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0009908
hpo_term: Anterior creases of earlobe
chpo_term: 耳垂前襞
id: HP:0030001
hpo_term: Lagopthalmos
chpo_term: 睑裂闭合不全
id: HP:0010812
hpo_term: Short uvula
chpo_term: 悬雍垂短小
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0100719
hpo_term: Lens coloboma
chpo_term: 晶状体缺损
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼