TaoMedAI/RareMedData huggingface dataset:
HP:0001592: Selective tooth agenesis / 选择性牙齿发育不全
HP:0001593: Maxillary lateral incisor microdontia / 上颌侧切牙小牙畸形
HP:0001595: Abnormal hair morphology / 毛发形态异常
HP:0001596: Alopecia / 脱发
HP:0001597: Abnormality of the nail / 指（趾）甲异常
HP:0001598: Concave nail / 反甲
HP:0001600: Abnormality of the larynx / 喉部异常
HP:0001601: Laryngomalacia / 喉软骨软化
HP:0001602: Laryngeal stenosis / 喉狭窄
HP:0001604: Vocal cord paresis / 声带不全性麻痹
HP:0001605: Vocal cord paralysis / 声带麻痹
HP:0001607: Subglottic stenosis / 声门下狭窄
HP:0001608: Abnormality of the voice / 声音异常
HP:0001609: Hoarse voice / 声音嘶哑
HP:0001611: Nasal speech / 鼻音
HP:0001612: Weak cry / 哭声微弱
HP:0001615: Hoarse cry / 声音嘶哑的哭声
HP:0001618: Dysphonia / 发音困难
HP:0001620: High pitched voice / 高音调的声音
HP:0001621: Weak voice / 嗓音微弱
HP:0001622: Premature birth / 早产
HP:0001623: Breech presentation / 臀先露
HP:0001626: Abnormality of the cardiovascular system / 心血管系统的任何异常。
HP:0001627: Abnormal heart morphology / 心脏形态异常
HP:0001629: Ventricular septal defect / 室间隔缺损
HP:0001631: Atrial septal defect / 房间隔缺损
HP:0001633: Abnormal mitral valve morphology / 二尖瓣形态异常
HP:0001634: Mitral valve prolapse / 二尖瓣脱垂
HP:0001635: Congestive heart failure / 充血性心力衰竭
HP:0001636: Tetralogy of Fallot / 法洛四联症
HP:0001637: Abnormal myocardium morphology / 心肌形态异常
HP:0001638: Cardiomyopathy / 心肌病
HP:0001639: Hypertrophic cardiomyopathy / 肥厚型心肌病
HP:0001640: Cardiomegaly / 心脏扩大
HP:0001641: Abnormal pulmonary valve morphology / 肺动脉瓣形态异常
HP:0001642: Pulmonic stenosis / 肺动脉狭窄
HP:0001643: Patent ductus arteriosus / 动脉导管未闭
HP:0001644: Dilated cardiomyopathy / 扩张型心肌病
HP:0001645: Sudden cardiac death / 心脏性猝死
HP:0001646: Abnormal aortic valve morphology / 主动脉瓣形态异常
HP:0001647: Bicuspid aortic valve / 二叶主动脉瓣
HP:0001648: Cor pulmonale / 肺源性心脏病
HP:0001649: Tachycardia / 心动过速
HP:0001650: Aortic valve stenosis / 主动脉瓣狭窄
HP:0001651: Dextrocardia / 右位心
HP:0001653: Mitral regurgitation / 二尖瓣反流
HP:0001654: Abnormal heart valve morphology / 心脏瓣膜形态异常
HP:0001655: Patent foramen ovale / 卵圆孔未闭
HP:0001657: Prolonged QT interval / QT间期延长
HP:0001658: Myocardial infarction / 心肌梗死
HP:0001659: Aortic regurgitation / 主动脉瓣反流
HP:0001660: Truncus arteriosus / 动脉干
HP:0001662: Bradycardia / 心动过缓
HP:0001663: Ventricular fibrillation / 心室纤颤
HP:0001664: Torsade de pointes / 尖端扭转型室性心动过速
HP:0001667: Right ventricular hypertrophy / 右心室肥厚
HP:0001669: Transposition of the great arteries / 大动脉转位
HP:0001670: Asymmetric septal hypertrophy / 非对称性心室间隔肥厚
HP:0001671: Abnormal cardiac septum morphology / 心脏间隔异常
HP:0001674: Complete atrioventricular canal defect / 完全性房室通道缺损
HP:0001677: Coronary artery atherosclerosis / 冠状动脉粥样硬化
HP:0001678: Atrioventricular block / 房室传导阻滞
HP:0001679: Abnormal aortic morphology / 主动脉形态异常
HP:0001680: Coarctation of aorta / 主动脉缩窄
HP:0001681: Angina pectoris / 心绞痛
HP:0001682: Subvalvular aortic stenosis / 主动脉瓣下狭窄
HP:0001683: Ectopia cordis / 心脏异位
HP:0001684: Secundum atrial septal defect / 第二房间隔缺损
HP:0001685: Myocardial fibrosis / 心肌纤维化
HP:0001686: Loss of voice / 失声
HP:0001688: Sinus bradycardia / 窦性心动过缓
HP:0001691: Muscular subvalvular aortic stenosis / 肌性主动脉瓣下狭窄
HP:0001692: Atrial arrhythmia / 房性心律不齐
HP:0001693: Cardiac shunt / 心脏分流
HP:0001694: Right-to-left shunt / 右向左分流
HP:0001695: Cardiac arrest / 心脏骤停
HP:0001696: Situs inversus totalis / 全内脏反位
HP:0001697: Abnormal pericardium morphology / 心包形态异常
HP:0001698: Pericardial effusion / 心包积液
HP:0001699: Sudden death / 猝死
HP:0001700: Myocardial necrosis / 心肌坏死
HP:0001701: Pericarditis / 心包炎
HP:0001702: Abnormal tricuspid valve morphology / 三尖瓣形态异常
HP:0001704: Tricuspid valve prolapse / 三尖瓣脱垂
HP:0001705: Right ventricular outlet tract obstruction / 右室流出道梗阻
HP:0001706: Endocardial fibroelastosis / 心内膜弹力纤维增生症
HP:0001707: Abnormal right ventricle morphology / 右心室形态异常
HP:0001708: Right ventricular failure / 右心衰竭
HP:0001709: Third degree atrioventricular block / 三度房室传导阻滞
HP:0001710: Conotruncal defect / 圆锥动脉干缺损
HP:0001711: Abnormal left ventricle morphology / 左心室形态异常
HP:0001712: Left ventricular hypertrophy / 左心室肥厚
HP:0001713: Abnormal cardiac ventricle morphology / 心室形态异常
HP:0001714: Ventricular hypertrophy / 心室肥厚
HP:0001716: Wolff-Parkinson-White syndrome / 预激综合征
HP:0001717: Coronary artery calcification / 冠状动脉钙化
HP:0001718: Mitral stenosis / 二尖瓣狭窄
HP:0001719: Double outlet right ventricle / 右室双出口
HP:0001722: High-output congestive heart failure / 高输出充血性心力衰竭
HP:0001723: Restrictive cardiomyopathy / 限制型心肌病
HP:0001727: Thromboembolic stroke / 血栓栓塞性脑卒中
HP:0001730: Progressive hearing impairment / 渐进性听力损失
HP:0001732: Abnormality of the pancreas / 胰腺异常
HP:0001733: Pancreatitis / 胰腺炎
HP:0001734: Annular pancreas / 环状胰
HP:0001735: Acute pancreatitis / 急性胰腺炎
HP:0001737: Pancreatic cysts / 胰腺囊肿
HP:0001738: Exocrine pancreatic insufficiency / 胰腺外分泌功能不全
HP:0001739: Abnormal nasopharynx morphology / 鼻咽部形态异常
HP:0001741: Phimosis / 包茎
HP:0001742: Nasal congestion / 鼻塞
HP:0001743: Abnormality of the spleen / 脾脏异常
HP:0001744: Splenomegaly / 脾肿大
HP:0001746: Asplenia / 无脾
HP:0001747: Accessory spleen / 副脾
HP:0001748: Polysplenia / 多脾
HP:0001750: Single ventricle / 单心室
HP:0001751: Vestibular dysfunction / 前庭功能障碍
HP:0001756: Vestibular hypofunction / 前庭功能减退
HP:0001757: High-frequency sensorineural hearing impairment / 高频感音神经性听力障碍
HP:0001760: Abnormal foot morphology / 足部形态异常
HP:0001761: Pes cavus / 高弓足
HP:0001762: Talipes equinovarus / 马蹄内翻足
HP:0001763: Pes planus / 扁平足
HP:0001765: Hammertoe / 槌状趾
HP:0001769: Broad foot / 宽足
HP:0001770: Toe syndactyly / 并趾
HP:0001771: Achilles tendon contracture / 跟腱挛缩
HP:0001772: Talipes equinovalgus / 马蹄外翻足
HP:0001773: Short foot / 短足
HP:0001775: Tarsal osteovalgus / 跗骨骨外翻
HP:0001776: Bilateral talipes equinovarus / 双侧马蹄内翻足
HP:0001780: Abnormality of toe / 脚趾异常
HP:0001782: Bulbous tips of toes / 球茎状趾尖
HP:0001783: Broad metatarsal / 跖骨变宽
HP:0001785: Ankle swelling / 踝关节肿胀
HP:0001786: Narrow foot / 窄足
HP:0001787: Abnormal delivery / 分娩异常
HP:0001788: Premature rupture of membranes / 胎膜早破
HP:0001789: Hydrops fetalis / 胎儿水肿
HP:0001790: Nonimmune hydrops fetalis / 非免疫性胎儿水肿
HP:0001791: Fetal ascites / 胎儿腹水
HP:0001792: Small nail / 微甲
HP:0001795: Hyperconvex nail / 甲异常凸起
HP:0001798: Anonychia / 无甲症
HP:0001799: Short nail / 短甲
HP:0001800: Hypoplastic toenails / 趾甲发育不良
HP:0001802: Absent toenail / 趾甲缺损
HP:0001803: Nail pits / 甲凹点
HP:0001804: Hypoplastic fingernail / 指甲发育不良
HP:0001805: Onychogryposis / 厚甲
HP:0001806: Onycholysis / 甲分离
HP:0001807: Ridged nail / 甲纵嵴
HP:0001808: Fragile nails / 脆甲
HP:0001809: Split nail / 甲纵裂
HP:0001810: Dystrophic toenail / 趾甲营养不良
HP:0001812: Hyperconvex fingernails / 指甲异常凸起
HP:0001814: Deep-set nails / 嵌甲
HP:0001816: Thin nail / 薄甲
HP:0001817: Absent fingernail / 指甲缺损
HP:0001818: Paronychia / 甲沟炎
HP:0001820: Leukonychia / 白甲
HP:0001821: Broad nail / 宽甲
HP:0001822: Hallux valgus / 拇趾外翻
HP:0001824: Weight loss / 体重减轻
HP:0001827: Genital tract atresia / 生殖道闭锁
HP:0001829: Foot polydactyly / 多趾
HP:0001830: Postaxial foot polydactyly / 轴后多趾
HP:0001831: Short toe / 短趾
HP:0001832: Abnormal metatarsal morphology / 跖骨形态异常
HP:0001833: Long foot / 长足
HP:0001836: Camptodactyly of toe / 脚趾屈曲畸形
HP:0001837: Broad toe / 宽趾
HP:0001838: Rocker bottom foot / 摇椅足
HP:0001839: Split foot / 脚劈裂
HP:0001840: Metatarsus adductus / 跖内收
HP:0001841: Preaxial foot polydactyly / 轴前多趾
HP:0001842: Foot acroosteolysis / 足趾端溶骨
HP:0001844: Abnormality of the hallux / 拇趾异常
HP:0001845: Overlapping toe / 重叠趾
HP:0001847: Long hallux / 长拇趾
HP:0001848: Calcaneovalgus deformity / 足外翻畸形
HP:0001849: Foot oligodactyly / 少趾畸形
HP:0001850: Abnormality of the tarsal bones / 跗骨异常
HP:0001852: Sandal gap / 木屐足
HP:0001853: Bifid distal phalanx of toe / 末节跖骨分叉
HP:0001854: Podagra / 跖趾关节痛风
HP:0001857: Short distal phalanx of toe / 末节跖骨短小
HP:0001859: Distal foot symphalangism / 远端趾关节融合
HP:0001863: Toe clinodactyly / 脚趾屈趾畸形
HP:0001864: Clinodactyly of the 5th toe / 第五趾屈曲畸形
HP:0001868: Autoamputation of foot / 足部自发离断
HP:0001869: Deep plantar creases / 跖部深褶
HP:0001870: Acroosteolysis of distal phalanges (feet) / 远节趾骨肢端溶骨
HP:0001871: Abnormality of blood and blood-forming tissues / 血液和造血组织异常
HP:0001872: Abnormality of thrombocytes / 血小板异常
HP:0001873: Thrombocytopenia / 血小板减少症
HP:0001874: Abnormality of neutrophils / 中性粒细胞异常
HP:0001875: Neutropenia / 中性粒细胞减少症
HP:0001876: Pancytopenia / 全血细胞减少症
HP:0001877: Abnormal erythrocyte morphology / 红细胞形态异常
HP:0001878: Hemolytic anemia / 溶血性贫血
HP:0001879: Abnormal eosinophil morphology / 嗜酸性粒细胞形态异常
HP:0001880: Eosinophilia / 嗜酸性粒细胞增多症
HP:0001881: Abnormal leukocyte morphology / 白细胞形态异常
HP:0001882: Leukopenia / 白细胞减少症
HP:0001883: Talipes / 畸形足
HP:0001884: Talipes calcaneovalgus / 跟骨畸形
HP:0001885: Short 2nd toe / 第二趾短小
HP:0001886: Foot osteomyelitis / 足骨骨髓炎
HP:0001888: Lymphopenia / 淋巴细胞减少症
HP:0001889: Megaloblastic anemia / 巨幼细胞性贫血
HP:0001890: Autoimmune hemolytic anemia / 自身免疫性溶血性贫血
HP:0001891: Iron deficiency anemia / 缺铁性贫血
HP:0001892: Abnormal bleeding / 异常出血
HP:0001894: Thrombocytosis / 血小板增多症
HP:0001895: Normochromic anemia / 正色素性贫血
HP:0001896: Reticulocytopenia / 网织细胞减少症
HP:0001897: Normocytic anemia / 正细胞性贫血
HP:0001898: Increased red blood cell mass / 红细胞数量增多
HP:0001899: Increased hematocrit / 红细胞压积增高
HP:0001900: Increased hemoglobin / 血红蛋白增多
HP:0001901: Polycythemia / 红细胞增多症
HP:0001902: Giant platelets / 巨血小板
HP:0001903: Anemia / 贫血
HP:0001904: Neutropenia in presence of anti-neutropil antibodies / 抗中性粒细胞抗体阳性的中性粒细胞减少症
HP:0001905: Congenital thrombocytopenia / 先天性血小板减少症
HP:0001907: Thromboembolism / 血栓栓塞症
HP:0001908: Hypoplastic anemia / 发育不良性贫血
HP:0001909: Leukemia / 白血病
HP:0001911: Abnormal granulocyte morphology / 粒细胞形态异常
HP:0001912: Abnormal basophil morphology / 嗜碱性粒细胞形态异常
HP:0001913: Granulocytopenia / 粒细胞减少症
HP:0001915: Aplastic anemia / 再生障碍性贫血
HP:0001917: Renal amyloidosis / 肾淀粉样病变
HP:0001919: Acute kidney injury / 急性肾损伤
HP:0001920: Renal artery stenosis / 肾动脉狭窄
HP:0001922: Vacuolated lymphocytes / 空泡淋巴细胞
HP:0001923: Reticulocytosis / 网织红细胞增多症
HP:0001924: Sideroblastic anemia / 铁粒幼细胞性贫血
HP:0001927: Acanthocytosis / 棘形红细胞增多症
HP:0001928: Abnormality of coagulation / 凝血异常
HP:0001929: Reduced factor XI activity / 凝血因子XI活性减低
HP:0001930: Nonspherocytic hemolytic anemia / 非球形红细胞性溶血性贫血
HP:0001931: Hypochromic anemia / 低色素性贫血
HP:0001933: Subcutaneous hemorrhage / 皮下出血
HP:0001934: Persistent bleeding after trauma / 创伤后持续性出血
HP:0001935: Microcytic anemia / 小细胞性贫血
HP:0001937: Microangiopathic hemolytic anemia / 微血管病性溶血性贫血
HP:0001939: Abnormality of metabolism/homeostasis / 代谢紊乱/稳态失衡
HP:0001941: Acidosis / 酸中毒
HP:0001942: Metabolic acidosis / 代谢性酸中毒
HP:0001943: Hypoglycemia / 低血糖
HP:0001944: Dehydration / 脱水
HP:0001945: Fever / 发热
HP:0001946: Ketosis / 酮症
HP:0001947: Renal tubular acidosis / 肾小管性酸中毒
HP:0001948: Alkalosis / 碱中毒
HP:0001949: Hypokalemic alkalosis / 低钾性碱中毒
HP:0001950: Respiratory alkalosis / 呼吸性碱中毒
HP:0001951: Episodic ammonia intoxication / 阵发性氨中毒
HP:0001952: Glucose intolerance / 糖耐量异常
HP:0001953: Diabetic ketoacidosis / 糖尿病酮症酸中毒
HP:0001954: Recurrent fever / 阵发性发热
HP:0001955: Unexplained fevers / 不明原因的发热
HP:0001956: Truncal obesity / 躯干性肥胖
HP:0001958: Nonketotic hypoglycemia / 非酮症性低血糖
HP:0001959: Polydipsia / 烦渴
HP:0001960: Hypokalemic metabolic alkalosis / 低钾性代谢性碱中毒
HP:0001961: Hypoplastic heart / 心脏发育不全
HP:0001962: Palpitations / 心悸
HP:0001963: Abnormal speech discrimination / 言语辨别异常
HP:0001964: Aplasia/Hypoplasia of metatarsal bones / 跖骨发育不良/发育不全
HP:0001965: Abnormal scalp morphology / 头皮形态异常
HP:0001966: Abnormal glomerular mesangium morphology / 肾小球系膜形态异常
HP:0001967: Diffuse mesangial sclerosis / 弥漫性肾小球系膜硬化
HP:0001969: Abnormal tubulointerstitial morphology / 肾小管间质形态异常
HP:0001970: Tubulointerstitial nephritis / 肾小管间质性肾炎
HP:0001971: Hypersplenism / 脾功能亢进
HP:0001972: Macrocytic anemia / 大细胞性贫血
HP:0001973: Autoimmune thrombocytopenia / 自身免疫性血小板减少症
HP:0001974: Leukocytosis / 白细胞增多症
HP:0001975: Decreased platelet glycoprotein IIb-IIIa / 血小板糖蛋白Ⅱb-IIIA减少
HP:0001976: Reduced antithrombin III activity / 抗凝血酶 III 活性减低
HP:0001977: Abnormal thrombosis / 异常血栓形成
HP:0001978: Extramedullary hematopoiesis / 髓外造血
HP:0001980: Megaloblastic bone marrow / 巨幼细胞性骨髓
HP:0001981: Schistocytosis / 裂(红)细胞症
HP:0001982: Sea-blue histiocytosis / 海蓝色组织细胞增多症
HP:0001983: Reduced lymphocyte surface expression of CD43 / 淋巴细胞表面CD43表达降低
HP:0001984: Intolerance to protein / 蛋白质不耐受
HP:0001985: Hypoketotic hypoglycemia / 低酮性低血糖
HP:0001986: Hypertonic dehydration / 高渗性脱水
HP:0001987: Hyperammonemia / 高氨血症
HP:0001988: Recurrent hypoglycemia / 反复发作性低血糖
HP:0001989: Fetal akinesia sequence / 胎儿运动不能序列征
HP:0001991: Aplasia/Hypoplasia of toe / 脚趾发育不良/发育不全
HP:0001992: Organic aciduria / 有机酸尿症
HP:0001993: Ketoacidosis / 酮症酸中毒
HP:0001994: Renal Fanconi syndrome / 肾范可尼综合征
HP:0001995: Hyperchloremic acidosis / 高氯性酸中毒
HP:0001996: Chronic metabolic acidosis / 慢性代谢性酸中毒
HP:0001997: Gout / 痛风
HP:0001998: Neonatal hypoglycemia / 新生儿低血糖
HP:0001999: Abnormal facial shape / 面部形状异常
HP:0002000: Short columella / 鼻小柱短小
HP:0002002: Deep philtrum / 深人中沟
HP:0002003: Large forehead / 大额头
HP:0002006: Facial cleft / 面裂
HP:0002007: Frontal bossing / 前额突出
HP:0002009: Potter facies / 波特面容
HP:0002010: Narrow maxilla / 颌骨狭窄
HP:0002011: Morphological central nervous system abnormality / 中枢神经系统的形态异常
HP:0002012: Abnormality of the abdominal organs / 腹部器官异常
HP:0002013: Vomiting / 呕吐
HP:0002014: Diarrhea / 腹泻
HP:0002015: Dysphagia / 吞咽困难
HP:0002017: Nausea and vomiting / 恶心和呕吐
HP:0002018: Nausea / 恶心
HP:0002019: Constipation / 便秘
HP:0002020: Gastroesophageal reflux / 胃食管反流
HP:0002021: Pyloric stenosis / 幽门狭窄
HP:0002023: Anal atresia / 肛门闭锁
HP:0002024: Malabsorption / 吸收不良
HP:0002025: Anal stenosis / 肛门狭窄
HP:0002027: Abdominal pain / 腹痛
HP:0002028: Chronic diarrhea / 慢性腹泻
HP:0002031: Abnormal esophagus morphology / 食管形态结构异常
HP:0002032: Esophageal atresia / 食管闭锁
HP:0002033: Poor suck / 吸吮无力
HP:0002034: Abnormal rectum morphology / 直肠形态结构异常
HP:0002035: Rectal prolapse / 直肠脱垂
HP:0002036: Hiatus hernia / 裂孔疝
HP:0002037: Inflammation of the large intestine / 大肠炎症
HP:0002038: Protein avoidance / 蛋白质回避
HP:0002039: Anorexia / 厌食症
HP:0002040: Esophageal varix / 食管静脉曲张
HP:0002041: Intractable diarrhea / 顽固性腹泻
HP:0002043: Esophageal stricture / 食管狭窄
HP:0002044: Zollinger-Ellison syndrome / Zollinger-Ellison 综合征
HP:0002045: Hypothermia / 低体温
HP:0002046: Heat intolerance / 不耐热
HP:0002047: Malignant hyperthermia / 恶性高热
HP:0002048: Renal cortical atrophy / 肾皮质萎缩
HP:0002049: Proximal renal tubular acidosis / 近端肾小管酸中毒
HP:0002050: Macroorchidism, postpubertal / 青春期后大睾丸
HP:0002054: Heavy supraorbital ridges / 眶上嵴重厚
HP:0002055: Curved linear dimple below the lower lip / 下唇下弧形凹陷
HP:0002056: Abnormality of the glabella / 眉间异常
HP:0002057: Prominent glabella / 眉间突出
HP:0002058: Myopathic facies / 肌病性面容
HP:0002059: Cerebral atrophy / 脑萎缩
HP:0002060: Abnormal cerebral morphology / 大脑形态学异常
HP:0002061: Lower limb spasticity / 下肢痉挛
HP:0002062: Morphological abnormality of the pyramidal tract / 锥体束的形态异常
HP:0002063: Rigidity / 强直
HP:0002064: Spastic gait / 痉挛步态
HP:0002066: Gait ataxia / 共济失调步态
HP:0002067: Bradykinesia / 运动迟缓
HP:0002068: Neuromuscular dysphagia / 神经肌肉源性吞咽困难
HP:0002069: Bilateral tonic-clonic seizure / 双侧强直- 阵挛发作
HP:0002070: Limb ataxia / 肢体共济失调
HP:0002071: Abnormality of extrapyramidal motor function / 锥体外系功能障碍
HP:0002072: Chorea / 舞蹈样运动
HP:0002073: Progressive cerebellar ataxia / 进行性小脑共济失调
HP:0002074: Increased neuronal autofluorescent lipopigment / 神经元自体荧光脂褐素增加
HP:0002075: Dysdiadochokinesis / 轮替运动障碍
HP:0002076: Migraine / 偏头痛
HP:0002077: Migraine with aura / 有先兆偏头痛
HP:0002078: Truncal ataxia / 躯干性共济失调
HP:0002079: Hypoplasia of the corpus callosum / 胼胝体发育不良
HP:0002080: Intention tremor / 意向性震颤
HP:0002083: Migraine without aura / 无先兆偏头痛
HP:0002084: Encephalocele / 脑膨出
HP:0002085: Occipital encephalocele / 枕部脑膨出
HP:0002086: Abnormality of the respiratory system / 呼吸系统异常
HP:0002087: Abnormality of the upper respiratory tract / 上呼吸道异常
HP:0002088: Abnormal lung morphology / 肺部形态异常
HP:0002089: Pulmonary hypoplasia / 肺发育不良
HP:0002090: Pneumonia / 肺炎
HP:0002091: Restrictive ventilatory defect / 限制性通气功能障碍
HP:0002092: Pulmonary arterial hypertension / 肺动脉高压
HP:0002093: Respiratory insufficiency / 呼吸功能不全
HP:0002094: Dyspnea / 呼吸困难
HP:0002097: Emphysema / 气肿
HP:0002098: Respiratory distress / 呼吸窘迫
HP:0002099: Asthma / 哮喘
HP:0002100: Recurrent aspiration pneumonia / 反复吸入性肺炎
HP:0002101: Abnormal lung lobation / 肺分叶异常
HP:0002102: Pleuritis / 胸膜炎
HP:0002103: Abnormal pleura morphology / 胸膜异常
HP:0002104: Apnea / 呼吸暂停
HP:0002105: Hemoptysis / 咯血
HP:0002107: Pneumothorax / 气胸
HP:0002108: Spontaneous pneumothorax / 自发性气胸
HP:0002110: Bronchiectasis / 支气管扩张
HP:0002113: Pulmonary infiltrates / 肺浸润
HP:0002118: Abnormal cerebral ventricle morphology / 脑室形态异常
HP:0002119: Ventriculomegaly / 巨脑室
HP:0002120: Cerebral cortical atrophy / 大脑皮层萎缩
HP:0002121: Generalized non-motor (absence) seizure / 失神发作
HP:0002123: Generalized myoclonic seizure / 全面性肌阵挛发作
HP:0002126: Polymicrogyria / 多小脑回
HP:0002127: Abnormal upper motor neuron morphology / 上运动神经元形态异常
HP:0002131: Episodic ataxia / 发作性共济失调
HP:0002132: Porencephalic cyst / 脑穿通性囊肿
HP:0002133: Status epilepticus / 癫痫持续状态
HP:0002134: Abnormal basal ganglia morphology / 基底节形态异常
HP:0002135: Basal ganglia calcification / 基底节钙化
HP:0002136: Broad-based gait / 宽基步态
HP:0002138: Subarachnoid hemorrhage / 蛛网膜下腔出血
HP:0002139: Arrhinencephaly / 无鼻无脑畸形
HP:0002140: Ischemic stroke / 缺血性脑卒中
HP:0002141: Gait imbalance / 步态失平衡
HP:0002143: Abnormality of the spinal cord / 脊髓异常
HP:0002144: Tethered cord / 脊髓栓系
HP:0002145: Frontotemporal dementia / 额颞叶痴呆
HP:0002148: Hypophosphatemia / 低磷血症
HP:0002149: Hyperuricemia / 高尿酸血症
HP:0002150: Hypercalciuria / 高钙尿症
HP:0002151: Increased serum lactate / 血清乳酸增高
HP:0002152: Hyperproteinemia / 高蛋白血症
HP:0002153: Hyperkalemia / 高钾血症
HP:0002154: Hyperglycinemia / 高甘氨酸血症
HP:0002155: Hypertriglyceridemia / 高甘油三酯血症
HP:0002156: Homocystinuria / 高胱氨酸尿症
HP:0002157: Azotemia / 氮质血症
HP:0002159: Heparan sulfate excretion in urine / 尿中硫酸乙酰肝素排泄
HP:0002160: Hyperhomocystinemia / 高同型半胱氨酸血症
HP:0002161: Hyperlysinemia / 高赖氨酸血症
HP:0002162: Low posterior hairline / 后发际低
HP:0002164: Nail dysplasia / 甲发育不良
HP:0002165: Pterygium of nails / 指甲翼状胬肉
HP:0002166: Impaired vibration sensation in the lower limbs / 下肢振动觉障碍
HP:0002167: Neurological speech impairment / 神经语言障碍
HP:0002168: Scanning speech / 断续言语
HP:0002169: Clonus / 阵挛
HP:0002170: Intracranial hemorrhage / 颅内出血
HP:0002171: Gliosis / 胶质细胞增生
HP:0002172: Postural instability / 姿势不稳
HP:0002173: Hypoglycemic seizures / 低血糖发作
HP:0002174: Postural tremor / 姿势性震颤
HP:0002176: Spinal cord compression / 脊髓受压
HP:0002179: Opisthotonus / 角弓反张
HP:0002180: Neurodegeneration / 神经变性
HP:0002181: Cerebral edema / 脑水肿
HP:0002183: Phonophobia / 声音恐惧
HP:0002185: Neurofibrillary tangles / 神经原纤维缠结
HP:0002186: Apraxia / 失用
HP:0002187: Intellectual disability, profound / 极重度智力障碍
HP:0002188: Delayed CNS myelination / 中枢神经系统的髓鞘化延迟
HP:0002190: Choroid plexus cyst / 脉络丛囊肿
HP:0002191: Progressive spasticity / 进行性痉挛
HP:0002193: Pseudobulbar behavioral symptoms / 假性延髓行为症状
HP:0002194: Delayed gross motor development / 粗大运动发育迟缓
HP:0002195: Dysgenesis of the cerebellar vermis / 小脑蚓部发育不全
HP:0002196: Myelopathy / 脊髓病
HP:0002197: Generalized-onset seizure / 全面性发作
HP:0002198: Dilated fourth ventricle / 第四脑室扩张
HP:0002199: Hypocalcemic seizures / 低钙发作
HP:0002200: Pseudobulbar signs / 假性球麻痹症状
HP:0002202: Pleural effusion / 胸腔积液
HP:0002203: Respiratory paralysis / 呼吸肌麻痹
HP:0002204: Pulmonary embolism / 肺栓塞
HP:0002205: Recurrent respiratory infections / 反复呼吸道感染
HP:0002206: Pulmonary fibrosis / 肺纤维化
HP:0002207: Diffuse reticular or finely nodular infiltrations / 弥漫性网状或细结节状浸润
HP:0002208: Coarse hair / 毛发粗糙
HP:0002209: Sparse scalp hair / 脱发
HP:0002211: White forelock / 额发变白
HP:0002212: Curly hair / 卷曲样发
HP:0002213: Fine hair / 绒毛
HP:0002215: Sparse axillary hair / 腋毛稀疏
HP:0002216: Premature graying of hair / 少白头
HP:0002217: Slow-growing hair / 毛发生长缓慢
HP:0002218: Silver-gray hair / 银灰色毛发
HP:0002219: Facial hypertrichosis / 面部多毛症（先天性）
HP:0002220: Melanin pigment aggregation in hair shafts / 发干部位色素沉积
HP:0002221: Absent axillary hair / 腋毛稀疏
HP:0002223: Absent eyebrow / 无眉
HP:0002224: Woolly hair / 羊毛状发
HP:0002225: Sparse pubic hair / 阴毛稀疏
HP:0002226: White eyebrow / 白眉
HP:0002227: White eyelashes / 白睫
HP:0002230: Generalized hirsutism / 全身性多毛症
HP:0002231: Sparse body hair / 体毛稀疏
HP:0002232: Patchy alopecia / 片形脱发，鬼剃头
HP:0002234: Early balding / 早期秃发
HP:0002235: Pili canaliculi / 隧道毛发
HP:0002236: Frontal upsweep of hair / 前额卷发
HP:0002239: Gastrointestinal hemorrhage / 胃肠道出血
HP:0002240: Hepatomegaly / 肝脏肿大
HP:0002242: Abnormal intestine morphology / 小肠形态异常
HP:0002243: Protein-losing enteropathy / 蛋白丢失性肠病
HP:0002244: Abnormality of the small intestine / 小肠异常
HP:0002245: Meckel diverticulum / Meckel憩室
HP:0002246: Abnormal duodenum morphology / 十二指肠形态异常
HP:0002247: Duodenal atresia / 十二指肠闭锁
HP:0002248: Hematemesis / 呕血
HP:0002249: Melena / 黑便
HP:0002250: Abnormal large intestine morphology / 大肠形态异常
HP:0002251: Aganglionic megacolon / 无神经节性巨结肠
HP:0002253: Colonic diverticula / 结肠憩室
HP:0002254: Intermittent diarrhea / 间歇性腹泻
HP:0002256: Small bowel diverticula / 小肠憩室
HP:0002257: Chronic rhinitis / 慢性鼻炎
HP:0002263: Exaggerated cupid's bow / 夸张的丘比特唇弓
HP:0002265: Large fleshy ears / 肥大耳
HP:0002266: Focal clonic seizure / 局灶性阵挛性发作
HP:0002267: Exaggerated startle response / 过度惊跳反射
HP:0002268: Paroxysmal dystonia / 阵发性肌张力障碍
HP:0002269: Abnormality of neuronal migration / 神经细胞迁移异常
HP:0002270: Abnormality of the autonomic nervous system / 自主神经系统异常
HP:0002273: Tetraparesis / 四肢轻瘫
HP:0002275: Poor motor coordination / 运动不协调
HP:0002277: Horner syndrome / 霍纳综合征
HP:0002280: Enlarged cisterna magna / 小脑延髓池扩大
HP:0002282: Gray matter heterotopia / 脑灰质异位
HP:0002283: Global brain atrophy / 全脑萎缩
HP:0002286: Fair hair / 金发
HP:0002287: Progressive alopecia / 进行性脱发
HP:0002289: Alopecia universalis / 全身毛发脱失
HP:0002290: Poliosis / 白发
HP:0002292: Frontal balding / 前额秃发
HP:0002293: Alopecia of scalp / 头皮脱发
HP:0002296: Progressive hypotrichosis / 进行性少毛症
HP:0002297: Red hair / 红发
HP:0002298: Absent hair / 毛发缺失
HP:0002299: Brittle hair / 毛发干枯
HP:0002300: Mutism / 缄默症
HP:0002301: Hemiplegia / 偏瘫
HP:0002304: Akinesia / 运动不能
HP:0002305: Athetosis / 手足徐动症
HP:0002307: Drooling / 流涎
HP:0002308: Chiari malformation / 小脑扁桃体下疝畸形
HP:0002310: Orofacial dyskinesia / 口面运动障碍
HP:0002311: Incoordination / 不协调
HP:0002312: Clumsiness / 笨拙
HP:0002313: Spastic paraparesis / 痉挛性双下肢瘫
HP:0002314: Degeneration of the lateral corticospinal tracts / 皮质脊髓侧束变性
HP:0002315: Headache / 头痛
HP:0002317: Unsteady gait / 步态不稳
HP:0002318: Cervical myelopathy / 脊髓型颈椎病
HP:0002321: Vertigo / 眩晕
HP:0002322: Resting tremor / 静止性震颤
HP:0002323: Anencephaly / 无脑畸形
HP:0002324: Hydranencephaly / 积水型无脑畸形
HP:0002326: Transient ischemic attack / 短暂性脑缺血发作
HP:0002329: Drowsiness / 困倦
HP:0002330: Paroxysmal drowsiness / 阵发性嗜睡
HP:0002331: Recurrent paroxysmal headache / 反复发作性头痛
HP:0002332: Lack of peer relationships / 同伴关系缺乏
HP:0002333: Motor deterioration / 运动功能减退
HP:0002334: Abnormal cerebellar vermis morphology / 小脑蚓部形态异常
HP:0002335: Agenesis of cerebellar vermis / 小脑蚓部发育不全
HP:0002339: Abnormal caudate nucleus morphology / 尾状核形态异常
HP:0002340: Caudate atrophy / 尾状核萎缩
HP:0002341: Cervical cord compression / 颈脊髓压迫症
HP:0002342: Intellectual disability, moderate / 中度智力障碍
HP:0002343: Normal pressure hydrocephalus / 正常压力性脑积水
HP:0002344: Progressive neurologic deterioration / 进行性神经功能恶化
HP:0002345: Action tremor / 动作性震颤
HP:0002346: Head tremor / 头部震颤
HP:0002349: Focal aware seizure / 知觉保留的局灶性发作
HP:0002350: Cerebellar cyst / 小脑囊肿
HP:0002352: Leukoencephalopathy / 白质脑病
HP:0002353: EEG abnormality / 脑电图异常
HP:0002354: Memory impairment / 记忆障碍
HP:0002355: Difficulty walking / 行走困难
HP:0002356: Writer's cramp / 书写痉挛
HP:0002359: Frequent falls / 频繁跌倒
HP:0002360: Sleep disturbance / 睡眠障碍
HP:0002361: Psychomotor deterioration / 精神运动性恶化
HP:0002362: Shuffling gait / 曳行步态
HP:0002363: Abnormal brainstem morphology / 脑干形态异常
HP:0002365: Hypoplasia of the brainstem / 脑干发育不良
HP:0002366: Abnormal lower motor neuron morphology / 下运动神经元形态异常
HP:0002367: Visual hallucinations / 幻视
HP:0002370: Poor coordination / 协调能力下降
HP:0002371: Loss of speech / 言语不能
HP:0002372: Normal interictal EEG / 发作间期正常脑电图
HP:0002373: Febrile seizure (within the age range of 3 months to 6 years) / 高热惊厥(年龄在3个月至6岁之间)
HP:0002374: Diminished movement / 运动减少
HP:0002375: Hypokinesia / 运动减少
HP:0002376: Developmental regression / 发育倒退
HP:0002378: Hand tremor / 手部震颤
HP:0002380: Fasciculations / 肌束震颤
HP:0002381: Aphasia / 失语症
HP:0002383: Infectious encephalitis / 传染性脑炎