TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:668):
Osteosarcoma
Osteogenic sarcoma

Associated phenotypes (HPO):
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0006489
hpo_term: Abnormal femoral metaphysis morphology
chpo_term: 股骨干骺端形态异常
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0006491
hpo_term: Abnormal tibial metaphysis morphology
chpo_term: 胫骨干骺端形态异常
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
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:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
Disease (ORPHA:75564):
RARS
Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
Refractory anemia with ringed sideroblasts

Associated phenotypes (HPO):
id: HP:0004828
hpo_term: Refractory anemia with ringed sideroblasts
chpo_term: 难治性贫血伴环状铁粒幼红细胞
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0012132
hpo_term: Erythroid hyperplasia
chpo_term: 红系增生
id: HP:0200143
hpo_term: Megaloblastic erythroid hyperplasia
chpo_term: 巨幼红细胞增生异常
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0011447
hpo_term: Hyposegmentation of neutrophil nuclei
chpo_term: 中性粒细胞核低分叶
id: HP:0012136
hpo_term: Dysplastic granulopoesis
chpo_term: 粒细胞生成异常
id: HP:0012137
hpo_term: Abnormal number of granulocyte precursors
chpo_term: 粒系前体细胞数量异常
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
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:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001913
hpo_term: Granulocytopenia
chpo_term: 粒细胞减少症
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0005513
hpo_term: Increased megakaryocyte count
chpo_term: 巨核细胞计数增加
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
Disease (ORPHA:445038):
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA7
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

Associated phenotypes (HPO):
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0410256
hpo_term: Infection associated neutropenia
chpo_term: 感染性中性粒细胞减少
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
Disease (ORPHA:667):
Infantile malignant osteopetrosis
Autosomal recessive malignant osteopetrosis

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
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:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001641
hpo_term: Abnormal pulmonary valve morphology
chpo_term: 肺动脉瓣形态异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007807
hpo_term: Optic nerve compression
chpo_term: 视神经受压
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0010543
hpo_term: Opsoclonus
chpo_term: 斜视眼阵挛
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:75565):
Davies disease
TEMF
Tropical endomyocardial fibrosis

Associated phenotypes (HPO):
id: HP:0006685
hpo_term: Endocardial fibrosis
chpo_term: 心内膜纤维化
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0006677
hpo_term: Prolonged QRS complex
chpo_term: QRS波群延长
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0012249
hpo_term: Abnormal ST segment
chpo_term: ST段异常
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0025077
hpo_term: Decreased QRS voltage
chpo_term: QRS低电压
id: HP:0025168
hpo_term: Left ventricular diastolic dysfunction
chpo_term: 左心室舒张功能障碍
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0033114
hpo_term: Quadruple gallop rhythm
chpo_term: 四心音奔马律
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005135
hpo_term: Abnormal T-wave
chpo_term: T波异常
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0006690
hpo_term: Myocardial calcification
chpo_term: 心肌钙化
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0011663
hpo_term: Right ventricular cardiomyopathy
chpo_term: 右室心肌病
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030149
hpo_term: Cardiogenic shock
chpo_term: 心源性休克
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0031595
hpo_term: Abnormal P wave
chpo_term: 异常P波
id: HP:0031650
hpo_term: Abnormal atrioventricular valve physiology
chpo_term: 房室瓣生理异常
id: HP:0005145
hpo_term: Coronary artery stenosis
chpo_term: 冠状动脉狭窄
id: HP:0031601
hpo_term: P pulmonale
chpo_term: 肺型P波
Disease (ORPHA:662):
Lymphedema with yellow nails
Yellow nail syndrome
YNS

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003759
hpo_term: Hypoplasia of lymphatic vessels
chpo_term: 淋巴管发育不全
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0009726
hpo_term: Renal neoplasm
chpo_term: 肾肿瘤
id: HP:0011354
hpo_term: Generalized abnormality of skin
chpo_term: 泛发性皮肤异常
id: HP:0011367
hpo_term: Yellow nails
chpo_term: 黄指甲
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100526
hpo_term: Neoplasm of the lung
chpo_term: 肺部肿瘤
id: HP:0100574
hpo_term: Biliary tract neoplasm
chpo_term: 胆管新生物
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
Disease (ORPHA:100057):
ACE inhibitor-related acquired angioedema
ACEI-related acquired angioedema
Renin-angiotensin-aldosterone system-blocker-induced angioedema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
RAAS-blocker-induced angioneurotic edema
Acquired angioedema with normal C1 inhibitor
Acquired angioedema with normal C1INH
RAAS-blocker-induced angioedema

Associated phenotypes (HPO):
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0025018
hpo_term: Abnormal capillary physiology
chpo_term: 毛细血管生理异常
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0031244
hpo_term: Swollen lip
chpo_term: 嘴唇肿大
id: HP:0040315
hpo_term: Tongue edema
chpo_term: 舌头水肿
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011855
hpo_term: Pharyngeal edema
chpo_term: 咽部水肿
id: HP:0012027
hpo_term: Laryngeal edema
chpo_term: 喉头水肿
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
Disease (ORPHA:661):
Congenital central alveolar hypoventilation syndrome
Ondine curse
Ondine syndrome
Congenital central hypoventilation syndrome
CCHS

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
id: HP:0006747
hpo_term: Ganglioneuroblastoma
chpo_term: 神经节神经母细胞瘤
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:449400):
IgG4-related aortitis

Associated phenotypes (HPO):
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0032300
hpo_term: Increased circulating IgG4 level
chpo_term: 血液IgG4增多
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:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0012649
hpo_term: Increased inflammatory response
chpo_term: 炎症反应增强
id: HP:0012727
hpo_term: Thoracic aortic aneurysm
chpo_term: 胸主动脉瘤
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0004431
hpo_term: Complement deficiency
chpo_term: 补体缺陷
id: HP:0004970
hpo_term: Ascending tubular aorta aneurysm
chpo_term: 生主动脉动脉瘤
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0012303
hpo_term: Abnormal aortic arch morphology
chpo_term: 主动脉弓形态异常
id: HP:0031252
hpo_term: Dilated left subclavian artery
chpo_term: 左锁骨下动脉扩张
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
id: HP:0430021
hpo_term: Abnormal common carotid artery morphology
chpo_term: 颈总动脉形态异常
Disease (ORPHA:664):
Ornithine carbamoyltransferase deficiency
OTC deficiency
OCT deficiency
Ornithine transcarbamylase deficiency

Associated phenotypes (HPO):
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001950
hpo_term: Respiratory alkalosis
chpo_term: 呼吸性碱中毒
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002038
hpo_term: Protein avoidance
chpo_term: 蛋白质回避
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0003572
hpo_term: Low plasma citrulline
chpo_term: 低血浆瓜氨酸
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
Disease (ORPHA:1909):
Indomethacin embryofetopathy
Fetal indomethacin syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
Disease (ORPHA:281122):
Self-improving collodion baby
Self-healing collodion baby
Self-improving congenital ichthyosis
SICI
SHCB

Associated phenotypes (HPO):
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
Disease (ORPHA:663):
mtDNA-related progressive external ophthalmoplegia
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
Mitochondrial DNA-related progressive external ophthalmoplegia

Associated phenotypes (HPO):
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0003800
hpo_term: Muscle abnormality related to mitochondrial dysfunction
chpo_term: 线粒体功能障碍引起的肌异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008316
hpo_term: Abnormal mitochondria in muscle tissue
chpo_term: 肌肉组织中线粒体异常
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
Disease (ORPHA:1908):
Fetal aminopterin syndrome
Aminopterin/methotrexate embryofetopathy
Aminopterin embryopathy syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/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:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:281127):
Acral SHCB
Acral self-healing collodion baby

Associated phenotypes (HPO):
id: HP:0007514
hpo_term: Edema of the dorsum of hands
chpo_term: 手背水肿
id: HP:0007559
hpo_term: Localized epidermolytic hyperkeratosis
chpo_term: 局部表皮松解性角化过度症
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012098
hpo_term: Edema of the dorsum of feet
chpo_term: 足背水肿
id: HP:0025524
hpo_term: Palmoplantar scaling skin
chpo_term: 掌跖鱼鳞样皮损
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏