Disease (ORPHA:355):
Glucocerebrosidase deficiency
Acid beta-glucosidase deficiency
Gaucher disease

Associated phenotypes (HPO):
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0003459
hpo_term: Polyclonal elevation of IgM
chpo_term: IgM抗体多克隆性增高
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0004380
hpo_term: Aortic valve calcification
chpo_term: 主动脉瓣钙化
id: HP:0004382
hpo_term: Mitral valve calcification
chpo_term: 二尖瓣钙化
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0006775
hpo_term: Multiple myeloma
chpo_term: 多发性骨髓瘤
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0031047
hpo_term: Paraproteinemia
chpo_term: 副蛋白血症
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0012223
hpo_term: Splenic rupture
chpo_term: 脾破裂
id: HP:0034336
hpo_term: Splenic infarction
chpo_term: 脾梗死
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003656
hpo_term: Decreased beta-glucocerebrosidase level
chpo_term: β-葡萄糖脑苷脂酶蛋白和活性降低
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0003330
hpo_term: Abnormal bone structure
chpo_term: 骨结构异常
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0032640
hpo_term: Elevated circulating CCL18 level
chpo_term: 血液趋化因子CCL18升高
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:6000213
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001637
hpo_term: Abnormal myocardium morphology
chpo_term: 心肌形态异常
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001697
hpo_term: Abnormal pericardium morphology
chpo_term: 心包形态异常
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血