Disease (ORPHA:354):
GLB1 deficiency
Beta-galactosidase-1 deficiency
Landing disease
GM1 gangliosidosis

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000940
hpo_term: Abnormal diaphysis morphology
chpo_term: 骨干形态异常
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004345
hpo_term: Ganglioside accumulation
chpo_term: 神经节苷脂代谢异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0025013
hpo_term: Decerebrate rigidity
chpo_term: 去大脑僵直
id: HP:0008166
hpo_term: Decreased beta-galactosidase activity
chpo_term: β-半乳糖苷酶活性降低
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0040197
hpo_term: Encephalomalacia
chpo_term: 脑软化症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0002011
hpo_term: Morphological central nervous system abnormality
chpo_term: 中枢神经系统的形态异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0012523
hpo_term: Oral aversion
chpo_term: 口服厌恶
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0500049
hpo_term: Retinopathy of prematurity
chpo_term: 早产儿视网膜病
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损