TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:589618):
Dystonia 28
DYT28
KMT2B-related dystonia

Associated phenotypes (HPO):
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0033049
hpo_term: Globus pallidus hypointensity on susceptibility-weighted imaging
chpo_term: SWI序列苍白球低信号
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0031959
hpo_term: Leg dystonia
chpo_term: 腿肌张力障碍
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0031960
hpo_term: Arm dystonia
chpo_term: 臂肌张力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:412035):
Del(13)(q12.3)
13q12.3 microdeletion syndrome
Monosomy 13q12.3

Associated phenotypes (HPO):
id: HP:0010763
hpo_term: Low insertion of columella
chpo_term: 鼻小柱低插入
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0012724
hpo_term: Upper eyelid edema
chpo_term: 上眼睑水肿
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0200053
hpo_term: Hemihypotrophy of lower limb
chpo_term: 下肢偏侧萎缩
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
Disease (ORPHA:747):
aPAP
Autoimmune pulmonary alveolar proteinosis
Autoimmune PAP

Associated phenotypes (HPO):
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0002087
hpo_term: Abnormality of the upper respiratory tract
chpo_term: 上呼吸道异常
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003651
hpo_term: Foam cells
chpo_term: 泡沫细胞
id: HP:0010876
hpo_term: Abnormal circulating protein concentration
chpo_term: 血液蛋白水平异常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025391
hpo_term: Crazy paving pattern
chpo_term: 肺部HRCT可见铺石路状结构
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:746):
TFPD
Mitochondrial trifunctional protein deficiency
TFP deficiency

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003756
hpo_term: Skeletal myopathy
chpo_term: 骨骼肌病
id: HP:0006555
hpo_term: Diffuse hepatic steatosis
chpo_term: 弥漫性肝脂肪变性
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011808
hpo_term: Decreased patellar reflex
chpo_term: 膝反射减弱
id: HP:0100626
hpo_term: Chronic hepatic failure
chpo_term: 慢性肝功能衰竭
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008138
hpo_term: Equinus calcaneus
chpo_term: 马蹄足畸形
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0007067
hpo_term: Distal peripheral sensory neuropathy
chpo_term: 远端感觉性周围神经病变
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0025145
hpo_term: Rigors
chpo_term: 僵硬
Disease (ORPHA:743):
Autosomal recessive thrombophilia due to congenital protein S deficiency
Severe hereditary thrombophilia due to congenital protein S deficiency

Associated phenotypes (HPO):
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0004418
hpo_term: Thrombophlebitis
chpo_term: 血栓性静脉炎
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0005293
hpo_term: Venous insufficiency
chpo_term: 静脉功能不全
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:742):
Hyperimidodipeptiduria
Prolidase deficiency

Associated phenotypes (HPO):
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000370
hpo_term: Abnormality of the middle ear
chpo_term: 中耳异常
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007473
hpo_term: Crusting erythematous dermatitis
chpo_term: 结痂性红斑样皮炎
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012786
hpo_term: Recurrent cystitis
chpo_term: 复发性膀胱炎
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:745):
Severe hereditary thrombophilia due to congenital protein C deficiency
Autosomal recessive thrombophilia due to PC deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency

Associated phenotypes (HPO):
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001038
hpo_term: Warfarin-induced skin necrosis
chpo_term: 华法林诱导性皮肤坏死
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005293
hpo_term: Venous insufficiency
chpo_term: 静脉功能不全
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
Disease (ORPHA:166035):
Brachydactyly-short stature-retinitis pigmentosa syndrome

Associated phenotypes (HPO):
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0005345
hpo_term: Abnormal vena cava morphology
chpo_term: 腔静脉形态异常
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0030455
hpo_term: Abnormality of pattern visual evoked potentials
chpo_term: 图形视觉诱发电位异常
Disease (ORPHA:391411):
Atypical juvenile parkinsonism

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0007164
hpo_term: Slowed slurred speech
chpo_term: 慢而含混不清的语言
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:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007311
hpo_term: Short stepped shuffling gait
chpo_term: 小碎步步态
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012638
hpo_term: Abnormal nervous system physiology
chpo_term: 神经系统生理功能异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
Disease (ORPHA:178029):
CDI
Neurogenic diabetes insipidus
Arginine vasopressin deficiency

Associated phenotypes (HPO):
id: HP:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
Disease (ORPHA:324636):
Painful bruising syndrome
Gardner-Diamond syndrome
GDS
Autoerythrocyte sensitization syndrome
Psychogenic purpura

Associated phenotypes (HPO):
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0005261
hpo_term: Joint hemorrhage
chpo_term: 关节出血
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0033676
hpo_term: Posttraumatic stress symptom
chpo_term: 创伤后应激综合征
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0008352
hpo_term: Impaired platelet adhesion
chpo_term: 血小板粘附障碍
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0030140
hpo_term: Oral cavity bleeding
chpo_term: 口腔出血
id: HP:0012233
hpo_term: Intramuscular hematoma
chpo_term: 肌内血肿
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0008770
hpo_term: Obsessive-compulsive trait
chpo_term: 强迫特质
id: HP:0012076
hpo_term: Borderline personality disorder
chpo_term: 边缘性人格障碍
id: HP:0031190
hpo_term: Superficial dermal perivascular inflammatory infiltrate
chpo_term: 真皮浅层血管周围炎性浸润
Disease (ORPHA:735):
Porokeratosis of Mibelli

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
Disease (ORPHA:737):
Palmar, plantar and disseminated porokeratosis
Porokeratosis plantaris palmaris et disseminata

Associated phenotypes (HPO):
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0040211
hpo_term: Abnormal skin morphology of the palm
chpo_term: 手掌皮肤异常
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0100872
hpo_term: Abnormality of the plantar skin of foot
chpo_term: 跖部皮肤异常
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常