TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:158681):
EBS with circinate migratory erythema
Epidermolysis bullosa simplex with circinate migratory erythema
EBS-migr

Associated phenotypes (HPO):
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0005585
hpo_term: Spotty hyperpigmentation
chpo_term: 点滴状色素沉着
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0007585
hpo_term: Skin fragility with non-scarring blistering
chpo_term: 非疤痕发疱性脆性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0031045
hpo_term: Acral blistering
chpo_term: 肢端水泡
id: HP:0031180
hpo_term: Erythema migrans
chpo_term: 游走性红斑
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0007599
hpo_term: Generalized reticulate brown pigmentation
chpo_term: 泛发性网状棕色色素沉着
id: HP:0012221
hpo_term: Pretibial blistering
chpo_term: 胫前起疱
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (ORPHA:2058):
Fryns-Smeets-Thiry syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
Disease (ORPHA:2057):
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Frydman-Cohen-Karmon syndrome

Associated phenotypes (HPO):
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006889
hpo_term: Intellectual disability, borderline
chpo_term: 边缘状态智力障碍
Disease (ORPHA:137754):
Aminoacylase 1 deficiency
N-acyl-aliphatic-L-amino acid amidohydrolase deficiency
ACY1D
N-acyl-L-amino acid amidohydrolase deficiency

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (ORPHA:2056):
Ketohexokinase deficiency
Essential fructosuria
Fructokinase deficiency

Associated phenotypes (HPO):
id: HP:0011033
hpo_term: Impairment of fructose metabolism
chpo_term: 果糖代谢障碍
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0010969
hpo_term: Abnormality of glycolipid metabolism
chpo_term: 糖脂代谢异常
id: HP:0030272
hpo_term: Abnormal erythrocyte enzyme level
chpo_term: 红细胞酶水平异常
id: HP:0031979
hpo_term: Abnormal urine carbohydrate level
chpo_term: 尿液碳水化合物水平异常
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
Disease (ORPHA:99939):
CMT2E
Autosomal dominant Charcot-Marie-Tooth disease type 2E

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007220
hpo_term: Demyelinating motor neuropathy
chpo_term: 脱髓鞘性运动神经病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011402
hpo_term: Demyelinating sensory neuropathy
chpo_term: 脱髓鞘性感觉神经病
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0012896
hpo_term: Abnormal motor evoked potentials
chpo_term: 运动诱发电位异常
id: HP:0030235
hpo_term: Extremely elevated creatine kinase
chpo_term: 肌酸磷酸激酶极度上升
id: HP:0200101
hpo_term: Decreased/absent ankle reflexes
chpo_term: 踝反射降低/缺如
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
Disease (ORPHA:3386):
American trypanosomiasis
Chagas disease

Associated phenotypes (HPO):
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
id: HP:0012700
hpo_term: Abnormal large intestine physiology
chpo_term: 大肠生理功能异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:502434):
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Associated phenotypes (HPO):
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
Disease (ORPHA:99931):
Idiopathic pulmonary hemosiderosis

Associated phenotypes (HPO):
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0025179
hpo_term: Ground-glass opacification
chpo_term: 毛玻璃样结构
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
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:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0003262
hpo_term: Smooth muscle antibody positivity
chpo_term: 平滑肌抗体阳性
id: HP:0003453
hpo_term: Antineutrophil antibody positivity
chpo_term: 抗中性粒细胞抗体阳性
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0025390
hpo_term: Reticular pattern on pulmonary HRCT
chpo_term: 肺部HRCT可见网状结构
id: HP:0025392
hpo_term: Nodular pattern on pulmonary HRCT
chpo_term: HRCT可见肺部结节状结构
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0030830
hpo_term: Crackles
chpo_term: 肺啰音
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0100327
hpo_term: Cow milk allergy
chpo_term: 牛奶过敏
Disease (ORPHA:238459):
CMP-sialic acid transporter deficiency
Congenital disorder of glycosylation type IIf
CDG syndrome type IIf
SLC35A1-CDG
CDG2F
Congenital disorder of glycosylation type 2f
Carbohydrate deficient glycoprotein syndrome type IIf
CDG-IIf

Associated phenotypes (HPO):
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:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001902
hpo_term: Giant platelets
chpo_term: 巨血小板
id: HP:0001933
hpo_term: Subcutaneous hemorrhage
chpo_term: 皮下出血
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0011883
hpo_term: Abnormal platelet granules
chpo_term: 血小板颗粒异常
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
Disease (ORPHA:401866):
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
Childhood-onset spasticity with hyperglycinemia
Spasticity-ataxia-gait anomalies syndrome

Associated phenotypes (HPO):
id: HP:0002191
hpo_term: Progressive spasticity
chpo_term: 进行性痉挛
id: HP:0008288
hpo_term: Nonketotic hyperglycinemia
chpo_term: 非酮症性高甘氨酸血症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
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:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002464
hpo_term: Spastic dysarthria
chpo_term: 痉挛性构音障碍
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0008945
hpo_term: Loss of ability to walk in early childhood
chpo_term: 幼儿早期行走能力丧失
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:238455):
Infantile dystonia-parkinsonism
PKDYS
IPD
Dopamine transporter deficiency syndrome
DTDS

Associated phenotypes (HPO):
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0004354
hpo_term: Abnormal circulating carboxylic acid concentration
chpo_term: 羧酸代谢异常
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:53715):
Familial tumoral calcinosis

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000230
hpo_term: Gingivitis
chpo_term: 牙龈炎
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0007470
hpo_term: Periarticular subcutaneous nodules
chpo_term: 关节周围皮下结节
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100249
hpo_term: Calcification of muscles
chpo_term: 肌肉钙化
id: HP:0100774
hpo_term: Hyperostosis
chpo_term: 骨质增生
Disease (ORPHA:2041):
Coronary arterial fistula

Associated phenotypes (HPO):
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0031670
hpo_term: Continuous heart murmur
chpo_term: 持续性心杂音
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0006689
hpo_term: Bacterial endocarditis
chpo_term: 细菌性心内膜炎
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0030882
hpo_term: Coronary artery aneurysm
chpo_term: 冠状动脉瘤
Disease (ORPHA:2040):
Congenital respiratory-biliary fistula

Associated phenotypes (HPO):
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
Disease (ORPHA:158676):
Localized DEB, nails only
Localized dystrophic epidermolysis bullosa, nails only

Associated phenotypes (HPO):
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0008401
hpo_term: Onychogryposis of toenails
chpo_term: 趾甲弯曲
id: HP:0040036
hpo_term: Onychogryposis of fingernail
chpo_term: 指甲弯曲
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011121
hpo_term: Abnormality of skin morphology
chpo_term: 皮肤形态异常
Disease (ORPHA:53719):
CAMS2
Wyburn-Mason syndrome
Bonnet-Dechaume-Blanc syndrome
Cerebrofacial arteriovenous metameric syndrome type 2

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
id: HP:0007797
hpo_term: Retinal vascular malformation
chpo_term: 视网膜血管畸形
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
Disease (ORPHA:171673):
Limbal stem cell deficiency

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000632
hpo_term: Lacrimation abnormality
chpo_term: 泪液分泌异常
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0030953
hpo_term: Conjunctival hyperemia
chpo_term: 结膜充血
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0007727
hpo_term: Opacification of the corneal epithelium
chpo_term: 角膜上皮混浊
id: HP:0011494
hpo_term: Generalized opacification of the cornea
chpo_term: 角膜广泛性混浊
id: HP:0011496
hpo_term: Corneal neovascularization
chpo_term: 角膜新生血管
id: HP:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
id: HP:0500008
hpo_term: Cornea verticillata
chpo_term: 角膜涡状营养不良