Disease (OMIM:613826):
LEBER CONGENITAL AMAUROSIS 6
Leber congenital amaurosis 6

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0030211
hpo_term: Slow pupillary light response
chpo_term: 瞳孔对光反应缓慢
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0032122
hpo_term: Very low visual acuity
chpo_term: 视力极低
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0007720
hpo_term: Flat cornea
chpo_term: 扁平角膜
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0025010
hpo_term: Foveal atrophy
chpo_term: 视网膜中央凹萎缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0030825
hpo_term: Absent foveal reflex
chpo_term: 黄斑中心凹反射缺失
id: HP:0200070
hpo_term: Peripheral retinal atrophy
chpo_term: 周边视网膜萎缩
id: HP:0008043
hpo_term: Retinal arteriolar constriction
chpo_term: 视网膜小动脉收缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0004327
hpo_term: Abnormal vitreous humor morphology
chpo_term: 玻璃体异常
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0030553
hpo_term: Visual acuity no light perception
chpo_term: 视力无光感
id: HP:0030672
hpo_term: Asteroid hyalosis
chpo_term: 星状玻璃体变性
id: HP:0030515
hpo_term: Moderately reduced visual acuity
chpo_term: 中度视力降低
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000550
hpo_term: Undetectable electroretinogram
chpo_term: 视网膜电流图熄灭型
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0001483
hpo_term: Eye poking
chpo_term: 戳眼
id: HP:0011504
hpo_term: Bull's eye maculopathy
chpo_term: 靶心样黄斑病变
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0012045
hpo_term: Retinal flecks
chpo_term: 视网膜斑点
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视