TaoMedAI/RareMedData huggingface dataset:
HP:0004664: Facial midline hemangioma / 面中线血管瘤
HP:0004673: Decreased facial expression / 面部表情减少
HP:0004676: Prominent supraorbital arches in adult / 成人眉弓突出
HP:0004679: Large tarsal bones / 大跗骨
HP:0004681: Deep longitudinal plantar crease / 跖部深在皱褶纵向分布
HP:0004684: Talipes valgus / 马蹄外翻足
HP:0004686: Short third metatarsal / 第三跖骨过短
HP:0004688: Irregular tarsal bones / 不规则的跗骨
HP:0004689: Short fourth metatarsal / 第四跖骨短
HP:0004690: Thickened Achilles tendon / 跟腱增厚
HP:0004691: 2-3 toe syndactyly / 第二、三脚趾并趾
HP:0004692: 4-5 toe syndactyly / 第四、五脚趾并趾
HP:0004695: Calcaneal epiphyseal stippling / 跟骨骨骺点状钙化
HP:0004696: Talipes cavus equinovarus / 马蹄内翻足高弓畸形
HP:0004699: Osteoporotic metatarsal / 跖骨骨质疏松
HP:0004704: Short fifth metatarsal / 第五跖骨过短
HP:0004712: Renal malrotation / 肾旋转不良
HP:0004713: Reversible renal failure / 可逆性肾功能衰竭
HP:0004717: Axial malrotation of the kidney / 肾轴向旋转异常
HP:0004719: Hyperechogenic kidneys / 肾脏回声增强
HP:0004722: Thickened glomerular basement membrane / 肾小球基底膜增厚
HP:0004724: Calcium nephrolithiasis / 钙性肾结石
HP:0004727: Impaired renal concentrating ability / 肾浓缩功能障碍
HP:0004729: Acute tubulointerstitial nephritis / 急性肾小管间质性肾炎
HP:0004732: Impaired renal uric acid clearance / 肾尿酸廓清障碍
HP:0004734: Renal cortical microcysts / 肾皮质微小囊肿
HP:0004736: Crossed fused renal ectopia / 融合肾移向一侧
HP:0004737: Global glomerulosclerosis / 完全性肾小球硬化症
HP:0004742: Abnormal renal collecting system morphology / 肾集合系统形态异常
HP:0004743: Chronic tubulointerstitial nephritis / 慢性肾小管间质性肾炎
HP:0004746: Glomerular subendothelial electron-dense deposits / 肾小球内皮下电子致密沉积物
HP:0004749: Atrial flutter / 心房扑动
HP:0004751: Paroxysmal ventricular tachycardia / 阵发性室性心动过速
HP:0004752: Congenital atrioventricular dissociation / 先天性房室分离
HP:0004754: Permanent atrial fibrillation / 永久性心房颤动
HP:0004755: Supraventricular tachycardia / 室上性心动过速
HP:0004756: Ventricular tachycardia / 室性心动过速
HP:0004757: Paroxysmal atrial fibrillation / 阵发性房颤
HP:0004758: Effort-induced polymorphic ventricular tachycardia / 劳力诱导型多形性室性心动过速
HP:0004761: Post-angioplasty coronary artery restenosis / 血管成形术后冠状动脉再狭窄
HP:0004762: Hypoplasia of right ventricle / 右心室发育不全
HP:0004763: Paroxysmal supraventricular tachycardia / 阵发性室上性心动过速
HP:0004764: Myxomatous mitral valve degeneration / 黏液瘤样二尖瓣退行性变
HP:0004768: Sparse anterior scalp hair / 前发稀疏
HP:0004771: Premature graying of body hair / 体毛过早变白
HP:0004779: Brittle scalp hair / 头发干枯
HP:0004780: Elbow hypertrichosis / 肘部多毛症
HP:0004783: Duodenal polyposis / 十二指肠息肉
HP:0004784: Juvenile gastrointestinal polyposis / 幼年性胃肠息肉病
HP:0004785: Malrotation of colon / 结肠旋转不良
HP:0004786: Jejunal diverticula / 空肠憩室
HP:0004787: Fulminant hepatitis / 暴发性肝炎
HP:0004788: Intestinal lymphedema / 肠淋巴水肿
HP:0004789: Lactose intolerance / 乳糖不耐受
HP:0004790: Hypoplasia of the small intestine / 小肠发育不良
HP:0004791: Esophageal ulceration / 食管溃疡
HP:0004792: Rectoperineal fistula / 直肠会阴瘘
HP:0004794: Malrotation of small bowel / 小肠旋转不良
HP:0004795: Hamartomatous stomach polyps / 错构瘤性胃息肉
HP:0004796: Gastrointestinal obstruction / 胃肠道梗阻
HP:0004797: Multiple small bowel atresias / 多发性小肠闭锁
HP:0004798: Recurrent infection of the gastrointestinal tract / 胃肠道复发性感染
HP:0004799: Jejunoileal diverticula / 空回肠憩室
HP:0004800: Duodenal diverticula / 十二指肠憩室
HP:0004802: Episodic hemolytic anemia / 阵发性溶血性贫血
HP:0004804: Congenital hemolytic anemia / 先天性溶血性贫血
HP:0004808: Acute myeloid leukemia / 急性髓性白血病
HP:0004809: Neonatal alloimmune thrombocytopenia / 新生儿同种免疫性血小板减少症
HP:0004810: Congenital hypoplastic anemia / 先天性发育不良性贫血
HP:0004812: B Acute Lymphoblastic Leukemia / 急性B淋巴细胞白血病
HP:0004813: Post-transfusion thrombocytopenia / 输血后血小板减少症
HP:0004814: Fava bean-induced hemolytic anemia / 蚕豆诱发性溶血性贫血
HP:0004817: Drug-sensitive hemolytic anemia / 药物敏感溶血性贫血
HP:0004818: Paroxysmal nocturnal hemoglobinuria / 阵发性睡眠性血红蛋白尿症
HP:0004819: Normocytic hypoplastic anemia / 正细胞发育不良性贫血
HP:0004820: Acute myelomonocytic leukemia / 急性粒单核细胞白血病
HP:0004821: Hypersegmentation of neutrophil nuclei / 中性粒细胞核分叶过度
HP:0004822: Atypical elliptocytosis / 非典型椭圆形红细胞增多症
HP:0004823: Anisopoikilocytosis / 异形红细胞增多症
HP:0004825: Increased hemoglobin oxygen affinity / 血红蛋白氧亲和力增加
HP:0004826: Folate-unresponsive megaloblastic anemia / 叶酸无反应型巨幼细胞性贫血
HP:0004828: Refractory anemia with ringed sideroblasts / 难治性贫血伴环状铁粒幼红细胞
HP:0004831: Recurrent thromboembolism / 复发性血栓栓塞
HP:0004835: Microspherocytosis / 小球红细胞增多症
HP:0004836: Acute promyelocytic leukemia / 急性早幼粒细胞白血病
HP:0004839: Pyropoikilocytosis / 热异形红细胞增多症
HP:0004840: Hypochromic microcytic anemia / 低色素性小红细胞性贫血
HP:0004841: Reduced factor XII activity / 凝血因子XII活性减低
HP:0004844: Coombs-positive hemolytic anemia / Coombs试验阳性溶血性贫血
HP:0004845: Acute monocytic leukemia / 急性单核细胞白血病
HP:0004846: Prolonged bleeding after surgery / 手术后出血时间延长
HP:0004848: Ph-positive acute lymphoblastic leukemia / Ph染色体阳性急性淋巴细胞白血病
HP:0004850: Recurrent deep vein thrombosis / 复发性深静脉血栓形成
HP:0004851: Folate-responsive megaloblastic anemia / 叶酸反应型巨幼细胞性贫血
HP:0004852: Reduced leukocyte alkaline phosphatase / 白细胞碱性磷酸酶减少
HP:0004854: Intermittent thrombocytopenia / 间歇性血小板减少症
HP:0004855: Reduced protein S activity / 蛋白S活性减低
HP:0004856: Normochromic microcytic anemia / 小细胞正色素性贫血
HP:0004857: Hyperchromic macrocytic anemia / 高色素性大细胞性贫血
HP:0004859: Amegakaryocytic thrombocytopenia / 巨核细胞缺乏性血小板减少症
HP:0004860: Thiamine-responsive megaloblastic anemia / 硫胺素反应性巨幼细胞性贫血
HP:0004861: Refractory macrocytic anemia / 难治性大细胞性贫血
HP:0004863: Compensated hemolytic anemia / 代偿性溶血性贫血
HP:0004864: Refractory sideroblastic anemia / 难治性铁粒幼细胞贫血
HP:0004866: Impaired ADP-induced platelet aggregation / ADP诱导的血小板聚集障碍
HP:0004870: Chronic hemolytic anemia / 慢性溶血性贫血
HP:0004871: Perineal fistula / 会阴瘘
HP:0004872: Incisional hernia / 切口疝
HP:0004875: Neonatal inspiratory stridor / 新生儿吸气性喘鸣
HP:0004876: Spontaneous neonatal pneumothorax / 新生儿自发性气胸
HP:0004878: Intercostal muscle weakness / 肋间肌无力
HP:0004879: Intermittent hyperventilation / 间歇性过度通气
HP:0004880: Respiratory infections in early life / 童年呼吸道感染
HP:0004881: Episodic hypoventilation / 阵发性通气不足
HP:0004885: Episodic respiratory distress / 阵发性呼吸窘迫
HP:0004886: Congenital laryngeal stridor / 先天性喉喘鸣
HP:0004887: Respiratory failure requiring assisted ventilation / 呼吸衰竭，需要辅助通气
HP:0004889: Intermittent episodes of respiratory insufficiency due to muscle weakness / 肌无力所致的间歇性呼吸功能不全发作
HP:0004890: Elevated pulmonary artery pressure / 肺动脉压升高
HP:0004891: Recurrent infections due to aspiration / 误吸造成反复感染
HP:0004894: Laryngotracheal stenosis / 喉气管狭窄
HP:0004897: Stress/infection-induced lactic acidosis / 应激/感染诱发的乳酸酸中毒
HP:0004898: Persistent lactic acidosis / 持续性乳酸酸中毒
HP:0004900: Severe lactic acidosis / 重度乳酸酸中毒
HP:0004901: Exercise-induced lactic acidemia / 运动诱发的乳酸血症
HP:0004902: Congenital lactic acidosis / 先天性乳酸酸中毒
HP:0004904: Maturity-onset diabetes of the young / 青少年发病的成人型糖尿病
HP:0004905: Low levels of vitamin A / 维生素A缺乏症
HP:0004906: Hypernatremic dehydration / 高钠脱水
HP:0004909: Hypokalemic hypochloremic metabolic alkalosis / 低钾低氯性代谢性碱中毒
HP:0004910: Bicarbonate-wasting renal tubular acidosis / 碳酸氢盐流失性肾小管酸中毒
HP:0004911: Episodic metabolic acidosis / 阵发性代谢性酸中毒
HP:0004912: Hypophosphatemic rickets / 低磷性佝偻病
HP:0004913: Intermittent lactic acidemia / 间歇性乳酸血症
HP:0004914: Recurrent infantile hypoglycemia / 婴儿反复发作性低血糖
HP:0004915: Impairment of galactose metabolism / 半乳糖代谢障碍
HP:0004916: Generalized distal tubular acidosis / 远端肾小管性酸中毒
HP:0004918: Hyperchloremic metabolic acidosis / 高氯性代谢性酸中毒
HP:0004919: Galactose intolerance / 半乳糖不耐受
HP:0004920: Phenylpyruvic acidemia / 苯丙酮酸血症
HP:0004921: Abnormal magnesium concentration / 镁离子稳态平衡异常
HP:0004922: Atypical hyperphenylalaninemia / 非典型高苯丙氨酸血症
HP:0004923: Hyperphenylalaninemia / 高苯丙氨酸血症
HP:0004924: Abnormal oral glucose tolerance / 口服葡萄糖耐量异常
HP:0004925: Chronic lactic acidosis / 慢性乳酸酸中毒
HP:0004926: Orthostatic hypotension due to autonomic dysfunction / 自主神经功能障碍性体位性低血压
HP:0004927: Pulmonary artery dilatation / 肺动脉扩张
HP:0004930: Abnormality of the pulmonary vasculature / 肺血管异常
HP:0004931: Arteriosclerosis of small cerebral arteries / 脑小动脉硬化
HP:0004933: Ascending aortic dissection / 升主动脉夹层
HP:0004934: Vascular calcification / 血管钙化
HP:0004935: Pulmonary artery atresia / 肺动脉闭锁
HP:0004936: Venous thrombosis / 静脉血栓形成
HP:0004937: Pulmonary artery aneurysm / 肺动脉瘤
HP:0004938: Tortuous cerebral arteries / 脑动脉迂曲
HP:0004940: Generalized arterial calcification / 周身动脉钙化
HP:0004941: Extrahepatic portal hypertension / 肝外门脉高压
HP:0004942: Aortic aneurysm / 主动脉瘤
HP:0004943: Accelerated atherosclerosis / 加速性动脉粥样硬化
HP:0004944: Dilatation of the cerebral artery / 脑动脉扩张
HP:0004945: Extracranial internal carotid artery dissection / 颅外颈内动脉夹层
HP:0004947: Arteriovenous fistula / 动静脉瘘
HP:0004948: Vascular tortuosity / 血管迂曲
HP:0004950: Peripheral arterial stenosis / 外周动脉狭窄
HP:0004952: Pulmonary arteriovenous fistulas / 肺动静脉瘘
HP:0004955: Generalized arterial tortuosity / 周身动脉迂曲
HP:0004959: Descending thoracic aorta aneurysm / 胸降主动脉动脉瘤
HP:0004960: Absent pulmonary artery / 肺动脉缺失
HP:0004961: Pulmonary artery sling / 肺动脉吊带
HP:0004962: Thoracic aorta calcification / 胸主动脉钙化
HP:0004963: Calcification of the aorta / 主动脉钙化
HP:0004964: Pulmonary arterial medial hypertrophy / 肺动脉中膜肥厚
HP:0004966: Medial calcification of large arteries / 大动脉中层钙化
HP:0004968: Recurrent cerebral hemorrhage / 复发性脑出血
HP:0004969: Peripheral pulmonary artery stenosis / 周围肺动脉狭窄
HP:0004970: Ascending tubular aorta aneurysm / 生主动脉动脉瘤
HP:0004971: Pulmonary artery hypoplasia / 肺动脉发育不全
HP:0004972: Elevated mean arterial pressure / 平均动脉压升高
HP:0004974: Coarctation of abdominal aorta / 腹主动脉缩窄
HP:0004975: Erlenmeyer flask deformity of the femurs / 股骨锥形瓶状变形
HP:0004976: Knee dislocation / 膝关节脱位
HP:0004977: Bilateral radial aplasia / 双侧桡骨发育不全
HP:0004979: Metaphyseal sclerosis / 干骺端硬化
HP:0004980: Metaphyseal rarefaction / 干骺端疏松
HP:0004981: Prominent styloid process of ulna / 尺骨茎突突出
HP:0004987: Mesomelic leg shortening / 腿中段缩短
HP:0004990: Epiphyseal streaking / 骨骺条纹变
HP:0004991: Rhizomelic arm shortening / 肢根型手臂缩短
HP:0004993: Slender long bones with narrow diaphyses / 长骨细长伴骨干狭窄
HP:0004997: Multicentric ossification of proximal humeral epiphyses / 肱骨近端骨骺多中心骨化
HP:0005001: Recurrent patellar dislocation / 复发性髌骨脱位
HP:0005003: Aplasia/Hypoplasia of the capital femoral epiphysis / 股骨头骨骺发育不良/发育不全
HP:0005004: Flattened proximal radial epiphyses / 桡骨近端骨骺扁平
HP:0005005: Femoral bowing present at birth, straightening with time / 出生时股骨有弯曲，随年龄增长而变直
HP:0005008: Large joint dislocations / 大关节脱位
HP:0005009: Dumbbell-shaped humerus / 哑铃状肱骨
HP:0005010: Osteomyelitis leading to amputation due to slow healing fractures / 因骨折愈合缓慢导致截肢的骨髓炎
HP:0005011: Mesomelic arm shortening / 臂中段缩短
HP:0005013: Dysplastic distal radial epiphyses / 桡骨远端骨骺发育不良
HP:0005017: Polyarticular chondrocalcinosis / 多关节软骨钙质沉着病
HP:0005019: Diaphyseal thickening / 骨干增粗
HP:0005021: Bilateral elbow dislocations / 双侧肘关节脱臼
HP:0005025: Hypoplastic distal humeri / 肱骨远端发育不良
HP:0005026: Mesomelic/rhizomelic limb shortening / 肢体中部/根部短缩
HP:0005028: Widened proximal tibial metaphyses / 胫骨近端干骺端增宽
HP:0005033: Distal ulnar hypoplasia / 尺骨远端发育不良
HP:0005035: Shortening of all phalanges of the toes / 全部趾骨缩短
HP:0005036: Unilateral ulnar hypoplasia / 单侧尺骨发育不良
HP:0005037: Proximal radio-ulnar synostosis / 近端桡尺骨性愈合
HP:0005039: Multiple long-bone exostoses / 多发性长骨外生骨疣
HP:0005041: Irregular capital femoral epiphysis / 股骨头骨骺不规则
HP:0005042: Irregular, rachitic-like metaphyses / 不规则佝偻病样干骺端
HP:0005043: Proximal humeral metaphyseal irregularity / 肱骨近端干骺端不规则
HP:0005045: Diaphyseal cortical sclerosis / 骨干皮质硬化症
HP:0005048: Synostosis of carpal bones / 腕骨骨性融合
HP:0005050: Anterolateral radial head dislocation / 桡骨头前外侧脱位
HP:0005054: Metaphyseal spurs / 干骺端骨刺
HP:0005059: Arthralgia/arthritis / 关节痛/关节炎
HP:0005060: Limited elbow flexion/extension / 肘关节屈曲/扩展受限
HP:0005063: Fragmented, irregular epiphyses / 不规则、碎裂的骨骺
HP:0005066: Cone-shaped epiphyses fused within their metaphyses / 干骺端融合的锥形骨骺
HP:0005067: Proximal fibular overgrowth / 腓骨近端增生
HP:0005068: Absent styloid process of ulna / 尺骨茎突缺如
HP:0005069: Rhizo-meso-acromelic limb shortening / 根-干-端型肢体短缩
HP:0005070: Proximal radial head dislocation / 近端桡骨头脱位
HP:0005072: Hyperextensibility at wrists / 手腕背伸过度
HP:0005084: Anterior radial head dislocation / 桡骨头前脱位
HP:0005085: Limited knee flexion/extension / 膝关节屈伸受限
HP:0005086: Knee osteoarthritis / 膝关节骨性关节炎
HP:0005089: Abnormal metaphyseal trabeculation / 干骺端小梁异常
HP:0005090: Lateral femoral bowing / 股骨外侧弯曲
HP:0005092: Streaky metaphyseal sclerosis / 干骺端条纹样硬化
HP:0005093: Absent proximal radial epiphyses / 桡骨近端骨骺缺如
HP:0005096: Distal femoral bowing / 股骨远端弯曲
HP:0005100: Premature birth following premature rupture of fetal membranes / 胎膜早破引起的胎儿早产
HP:0005101: High-frequency hearing impairment / 高频听力障碍
HP:0005102: Cochlear degeneration / 耳蜗退行性变
HP:0005103: Calcification of the auricular cartilage / 耳软骨钙化
HP:0005104: Hypoplastic nasal septum / 鼻中隔发育不全
HP:0005105: Abnormal nasal morphology / 鼻形态异常
HP:0005106: Abnormality of the vertebral endplates / 椎骨终板异常
HP:0005107: Abnormal sacrum morphology / 骶骨形态异常
HP:0005108: Abnormal intervertebral disk morphology / 椎间盘形态异常
HP:0005109: Abnormality of the Achilles tendon / 跟腱的异常
HP:0005110: Atrial fibrillation / 心房纤颤
HP:0005112: Abdominal aortic aneurysm / 腹主动脉瘤
HP:0005113: Aortic arch aneurysm / 主动脉弓部瘤
HP:0005115: Supraventricular arrhythmia / 室上性心律失常
HP:0005116: Arterial tortuosity / 动脉迂曲
HP:0005117: Elevated diastolic blood pressure / 舒张压升高
HP:0005120: Abnormal cardiac atrium morphology / 心房形态异常
HP:0005121: Posterior scalloping of vertebral bodies / 椎体后方扇形
HP:0005129: Congenital hypertrophy of left ventricle / 先天性左心室肥厚
HP:0005132: Pericardial constriction / 心包缩窄
HP:0005133: Right ventricular dilatation / 右心室扩张
HP:0005134: Absence of the pulmonary valve / 肺动脉瓣缺失
HP:0005135: Abnormal T-wave / T波异常
HP:0005136: Mitral annular calcification / 二尖瓣环钙化
HP:0005143: Anomalous origin of right pulmonary artery from ascending aorta / 升主动脉异常起源性右肺动脉
HP:0005144: Ventricular septal hypertrophy / 室间隔肥厚
HP:0005145: Coronary artery stenosis / 冠状动脉狭窄
HP:0005146: Cardiac valve calcification / 心脏瓣膜钙化
HP:0005147: Bidirectional ventricular ectopy / 双向心室异位
HP:0005148: Pulmonary valve defects / 肺动脉瓣缺陷
HP:0005150: Abnormal atrioventricular conduction / 房室传导异常
HP:0005151: Preductal coarctation of the aorta / 导管前主动脉缩窄
HP:0005152: Histiocytoid cardiomyopathy / 组织细胞样心肌病
HP:0005155: Ventricular escape rhythm / 室性逸搏心律
HP:0005156: Hypoplastic left atrium / 左心房发育不全
HP:0005157: Concentric hypertrophic cardiomyopathy / 向心性肥厚型心肌病
HP:0005160: Total anomalous pulmonary venous return / 完全性肺静脉回流异常
HP:0005162: Abnormal left ventricular function / 左心室功能异常
HP:0005164: Dysplastic pulmonary valve / 肺动脉瓣发育不良
HP:0005165: Shortened PR interval / PR间期缩短
HP:0005168: Elevated right atrial pressure / 右心房压力升高
HP:0005170: Complete heart block with broad QRS complexes / 完全性心脏传导阻滞伴宽QRS波群
HP:0005172: Left posterior fascicular block / 左后分支传导阻滞
HP:0005174: Membranous subvalvular aortic stenosis / 膜性主动脉瓣下狭窄
HP:0005176: Dysplastic aortic valve / 主动脉瓣发育不良
HP:0005177: Premature arteriosclerosis / 早发性动脉粥样硬化
HP:0005178: Complete heart block with narrow QRS complexes / 完全性心脏传导阻滞伴窄QRS波群
HP:0005180: Tricuspid regurgitation / 三尖瓣反流
HP:0005181: Premature coronary artery atherosclerosis / 早发性冠心病
HP:0005182: Bicuspid pulmonary valve / 二叶肺动脉瓣
HP:0005183: Pericardial lymphangiectasia / 心包淋巴管扩张
HP:0005184: Prolonged QTc interval / QTc间期延长
HP:0005185: Global systolic dysfunction / 心脏收缩功能障碍
HP:0005186: Synovial hypertrophy / 滑膜肥厚
HP:0005187: Progressive joint destruction / 关节渐进性受损
HP:0005190: Proximal finger joint hyperextensibility / 近端指关节伸展过度
HP:0005191: Congenital knee dislocation / 先天性膝关节脱位
HP:0005193: Restricted large joint movement / 大关节运动受限
HP:0005194: Flattened metatarsal heads / 扁平跖骨头
HP:0005195: Polyarticular arthropathy / 多关节病
HP:0005197: Generalized morning stiffness / 周身性晨僵
HP:0005198: Stiff interphalangeal joints / 指关节僵硬
HP:0005199: Aplasia of the abdominal wall musculature / 腹壁肌肉发育不全
HP:0005200: Retroperitoneal fibrosis / 腹膜后纤维化
HP:0005201: Anomalous splenoportal venous system / 异常脾门静脉系统
HP:0005202: Helicobacter pylori infection / 幽门螺杆菌感染
HP:0005203: Spontaneous esophageal perforation / 自发性食管穿孔
HP:0005206: Pancreatic pseudocyst / 胰腺假性囊肿
HP:0005207: Gastric hypertrophy / 胃肥大
HP:0005208: Secretory diarrhea / 分泌性腹泻
HP:0005209: Intrahepatic bile duct cysts / 肝内胆管囊肿
HP:0005210: Hypoplastic colon / 结肠发育不良
HP:0005211: Midgut malrotation / 中肠旋转不良
HP:0005212: Anal mucosal leukoplakia / 肛门粘膜白斑
HP:0005213: Pancreatic calcification / 胰腺钙化
HP:0005214: Intestinal obstruction / 肠梗阻
HP:0005215: Frequent Giardia lamblia infestation / 频繁蓝氏贾第鞭毛虫感染
HP:0005216: Impaired mastication / 咀嚼功能受损
HP:0005217: Duplication of internal organs / 内部器官重复
HP:0005218: Anoperineal fistula / 肛门会阴瘘
HP:0005219: Absence of intrinsic factor / 内因子缺乏
HP:0005220: Multiple intestinal neurofibromatosis / 多发性肠神经纤维瘤病
HP:0005222: Bowel diverticulosis / 肠憩室病
HP:0005223: Duplicated colon / 重复结肠
HP:0005224: Rectal abscess / 直肠脓肿
HP:0005225: Intestinal edema / 肠道水肿
HP:0005227: Adenomatous colonic polyposis / 腺瘤性结肠息肉病
HP:0005229: Jejunoileal ulceration / 空回肠溃疡
HP:0005230: Biliary tract obstruction / 胆道梗阻
HP:0005231: Chronic gastritis / 慢性胃炎
HP:0005232: Pancreatic dysplasia / 胰腺发育不良
HP:0005233: Hypoplasia of the gallbladder / 胆囊发育不良
HP:0005234: Neonatal intestinal obstruction / 新生儿肠梗阻
HP:0005235: Jejunal atresia / 空肠闭锁
HP:0005236: Chronic calcifying pancreatitis / 慢性钙化性胰腺炎
HP:0005237: Degenerative liver disease / 退行性肝病
HP:0005238: Discrete intestinal polyps / 分散性肠息肉
HP:0005240: Esophageal obstruction / 食管梗阻
HP:0005241: Total intestinal aganglionosis / 完全性肠神经节细胞缺乏
HP:0005242: Extrahepatic biliary duct atresia / 肝外胆道闭锁
HP:0005243: Partial abdominal muscle agenesis / 局部腹肌发育不全
HP:0005244: Gastrointestinal infarctions / 胃肠道梗塞
HP:0005245: Intestinal hypoplasia / 肠道发育不良
HP:0005246: Giant hypertrophic gastritis / 巨大肥厚性胃炎
HP:0005247: Hypoplasia of the abdominal wall musculature / 腹壁肌肉发育不良
HP:0005248: Intrahepatic biliary atresia / 肝内胆道闭锁
HP:0005249: Functional intestinal obstruction / 功能性肠梗阻
HP:0005250: High intestinal obstruction / 高位肠梗阻
HP:0005253: Increased anterioposterior diameter of thorax / 胸廓前后径增大
HP:0005254: Unilateral chest hypoplasia / 单侧胸部发育不全
HP:0005255: Absence of pectoralis minor muscle / 胸小肌缺如
HP:0005256: Unilateral absence of pectoralis major muscle / 胸大肌单侧缺如
HP:0005257: Thoracic hypoplasia / 胸廓发育不全
HP:0005258: Pectoral muscle hypoplasia/aplasia / 胸肌发育不全/发育不良
HP:0005259: Abnormal facility in opposing the shoulders / 双肩维持对称性异常
HP:0005261: Joint hemorrhage / 关节出血
HP:0005262: Abnormality of the synovia / 滑膜异常
HP:0005263: Gastritis / 胃炎
HP:0005264: Abnormality of the gallbladder / 胆囊异常
HP:0005265: Abnormal jejunum morphology / 空肠形态异常
HP:0005266: Intestinal polyp / 肠息肉
HP:0005267: Premature delivery because of cervical insufficiency or membrane fragility / 宫颈机能不全或胎膜脆性原因导致的早产
HP:0005268: Miscarriage / 流产
HP:0005272: Prominent nasolabial fold / 鼻唇沟突出
HP:0005273: Absent nasal septal cartilage / 鼻中隔软骨缺如
HP:0005274: Prominent nasal tip / 鼻尖突出
HP:0005275: Cartilaginous ossification of nose / 鼻软骨骨化
HP:0005278: Hypoplastic nasal tip / 鼻尖发育不全
HP:0005280: Depressed nasal bridge / 鼻梁塌陷
HP:0005281: Hypoplastic nasal bridge / 鼻梁发育不全
HP:0005285: Absent nasal bridge / 无鼻梁
HP:0005288: Abnormality of the nares / 鼻孔异常
HP:0005289: Abnormality of the nasolabial region / 鼻唇区异常
HP:0005290: Internal carotid artery hypoplasia / 颈内动脉发育不全
HP:0005291: Inflammatory arteriopathy / 炎症性动脉病
HP:0005292: Intimal thickening in the coronary arteries / 冠状动脉内膜增厚
HP:0005293: Venous insufficiency / 静脉功能不全
HP:0005294: Arterial dissection / 动脉夹层
HP:0005295: Pseudocoarctation of the aorta / 主动脉假性缩窄
HP:0005297: Premature occlusive vascular stenosis / 早发闭塞性血管狭窄
HP:0005300: Nodular inflammatory vasculitis / 结节性血管炎
HP:0005301: Persistent left superior vena cava / 左侧上腔静脉永存
HP:0005302: Carotid artery tortuosity / 颈动脉迂曲
HP:0005303: Aortic arch calcification / 主动脉弓钙化
HP:0005304: Hypoplastic pulmonary veins / 肺静脉发育不全
HP:0005305: Cerebral venous thrombosis / 脑静脉血栓形成
HP:0005306: Capillary hemangioma / 毛细血管瘤
HP:0005307: Postural hypotension with compensatory tachycardia / 体位性低血压伴代偿性心动过速
HP:0005308: Pulmonary artery vasoconstriction / 肺动脉收缩
HP:0005310: Large vessel vasculitis / 大血管炎
HP:0005311: Agenesis of pulmonary vessels / 肺血管发育不全
HP:0005312: Pulmonary aterial intimal fibrosis / 肺动脉内膜纤维化
HP:0005313: Arterial fibromuscular dysplasia / 纤维肌性动脉发育不良
HP:0005314: Anomalous branches of internal carotid artery / 颈内动脉异常分支
HP:0005316: Peripheral pulmonary vessel aplasia / 周围肺血管发育不全
HP:0005317: Increased pulmonary vascular resistance / 肺血管阻力增加
HP:0005318: Cerebral vasculitis / 脑血管炎
HP:0005320: Lack of facial subcutaneous fat / 面部皮下脂肪缺乏
HP:0005321: Mandibulofacial dysostosis / 下颌面骨发育不全
HP:0005322: Prominent nasal septum / 鼻中隔突起
HP:0005323: Hemifacial hypertrophy / 半侧面部肥大
HP:0005324: Disturbance of facial expression / 面部表情障碍
HP:0005325: Extension of hair growth on temples to lateral eyebrow / 颞部头发连到眉梢
HP:0005326: Hypoplastic philtrum / 人中发育不全
HP:0005327: Loss of facial expression / 面部表情退失
HP:0005328: Progeroid facial appearance / 早衰面容
HP:0005329: Fixed facial expression / 面部表情木讷
HP:0005332: Recurrent mandibular subluxations / 复发性下颌骨半脱位
HP:0005335: Sleepy facial expression / 困倦的表情
HP:0005336: Forehead hyperpigmentation / 前额色素沉着
HP:0005338: Sparse lateral eyebrow / 眉尖稀疏
HP:0005339: Abnormality of complement system / 补体系统异常
HP:0005340: Spastic/hyperactive bladder / 膀胱痉挛/过度活跃
HP:0005341: Autonomic bladder dysfunction / 自主性膀胱功能障碍
HP:0005343: Hypoplasia of the bladder / 膀胱发育不良
HP:0005344: Abnormal carotid artery morphology / 颈动脉形态异常
HP:0005345: Abnormal vena cava morphology / 腔静脉形态异常
HP:0005346: Abnormal facial expression / 面部表情异常
HP:0005347: Tracheal cartilaginous sleeve / 气管软骨套管
HP:0005348: Inspiratory stridor / 吸气性喘鸣
HP:0005349: Hypoplasia of the epiglottis / 会厌发育不良
HP:0005352: Severe T-cell immunodeficiency / 重度T细胞免疫缺陷
HP:0005353: Recurrent herpes / 复发性疱疹
HP:0005354: Lack of T cell function / T细胞功能缺陷
HP:0005356: Decreased serum complement factor I / 血清补体因子I减少
HP:0005357: Defective B cell differentiation / B细胞分化缺陷
HP:0005359: Aplasia of the thymus / 胸腺发育不全
HP:0005360: Susceptibility to chickenpox / 水痘易感
HP:0005363: Humoral immunodeficiency / 体液免疫缺陷
HP:0005365: Severe B lymphocytopenia / 重型B淋巴细胞减少症
HP:0005366: Recurrent streptococcus pneumoniae infections / 复发性链球菌感染肺炎
HP:0005368: Abnormality of humoral immunity / 体液免疫异常
HP:0005369: Decreased serum complement factor H / 血清补体因子H减少
HP:0005372: Abnormality of B cell physiology / B细胞生理异常
HP:0005374: Cellular immunodeficiency / 细胞免疫缺陷
HP:0005376: Recurrent Haemophilus influenzae infections / 反复流感嗜血杆菌感染
HP:0005381: Recurrent meningococcal disease / 反复脑膜炎球菌感染
HP:0005384: Defective B cell activation / B细胞活化障碍
HP:0005386: Recurrent protozoan infections / 反复原虫感染
HP:0005387: Combined immunodeficiency / 联合免疫缺陷
HP:0005389: Depletion of components of the alternative complement pathway / 补体旁路途径组分消耗
HP:0005390: Recurrent opportunistic infections / 反复机会性感染
HP:0005396: Susceptibility to coronavirus 229e / 冠状病毒229e易感
HP:0005400: Reduction of neutrophil motility / 中性粒细胞运动性能减低
HP:0005401: Recurrent candida infections / 反复念珠菌感染
HP:0005403: T lymphocytopenia / T淋巴细胞减少症
HP:0005404: Increased B cell count / B细胞数量增多
HP:0005406: Recurrent bacterial skin infections / 复发性细菌性皮肤感染
HP:0005407: Decreased proportion of CD4-positive helper T cells / CD4+辅助 T 细胞比例减低
HP:0005411: Chronic intestinal candidiasis / 慢性肠道念珠菌症
HP:0005413: Increased alpha-globulin / α-球蛋白增加
HP:0005415: Decreased proportion of CD8-positive T cells / CD8 + T细胞数目减低
HP:0005416: Decreased serum complement factor B / 血清补体因子B降低
HP:0005419: Decreased T cell activation / T细胞活化降低
HP:0005420: Recurrent gram-negative bacterial infections / 反复革兰氏阴性菌感染
HP:0005421: Decreased serum complement C3 / 血清补体C3减少
HP:0005422: Absence of CD8-positive T cells / CD8 + T细胞缺乏
HP:0005423: Dysfunctional alternative complement pathway / 补体旁路途径功能失调
HP:0005424: Absent specific antibody response / 特异性抗体应答缺失
HP:0005425: Recurrent sinopulmonary infections / 反复鼻窦及肺感染
HP:0005428: Severe recurrent varicella / 重症复发性水痘
HP:0005429: Recurrent systemic pyogenic infections / 反复全身化脓性感染
HP:0005430: Recurrent Neisserial infections / 反复奈瑟氏球菌感染
HP:0005432: Transient hypogammaglobulinemia of infancy / 婴儿期一过性低丙球蛋白血症
HP:0005435: Impaired T cell function / T细胞功能受损
HP:0005437: Recurrent infections in infancy and early childhood / 婴儿和幼儿期反复感染
HP:0005439: Maxillozygomatic hypoplasia / 上颌颧骨发育不全
HP:0005441: Sclerotic cranial sutures / 颅缝硬化
HP:0005442: Widely patent coronal suture / 冠状缝未闭