Disease (ORPHA:167):
Chédiak-Higashi syndrome
Chédiak-Higashi-Steinbrink syndrome
Chédiak-Higashi disease

Associated phenotypes (HPO):
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001881
hpo_term: Abnormal leukocyte morphology
chpo_term: 白细胞形态异常
id: HP:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0012145
hpo_term: Abnormality of multiple cell lineages in the bone marrow
chpo_term: 骨髓中多系细胞异常
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0031408
hpo_term: Increased proportion of CD25+ mast cells
chpo_term: CD25+肥大细胞比例增高
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000704
hpo_term: Periodontitis
chpo_term: 牙周炎
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0004527
hpo_term: Large clumps of pigment irregularly distributed along hair shaft
chpo_term: 沿发干不规则分布大片色素
id: HP:0005406
hpo_term: Recurrent bacterial skin infections
chpo_term: 复发性细菌性皮肤感染
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007499
hpo_term: Recurrent staphylococcal infections
chpo_term: 反复葡萄球菌感染
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0011869
hpo_term: Abnormal platelet function
chpo_term: 血小板功能异常
id: HP:0011990
hpo_term: Abnormality of neutrophil physiology
chpo_term: 中性粒细胞生理功能异常
id: HP:0012176
hpo_term: Abnormal natural killer cell morphology
chpo_term: 自然杀伤细胞形态异常
id: HP:0020096
hpo_term: Recurrent streptococcal infections
chpo_term: 复发性链球菌感染
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0006308
hpo_term: Atrophy of alveolar ridges
chpo_term: 牙槽嵴萎缩
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着