TaoMedAI/RareMedData huggingface dataset:
HP:0002384: Focal impaired awareness seizure / 知觉受损的局灶性发作
HP:0002385: Paraparesis / 下肢轻瘫
HP:0002389: Cavum septum pellucidum / 第五脑室
HP:0002390: Spinal arteriovenous malformation / 脊髓动静脉畸形
HP:0002392: EEG with polyspike wave complexes / 脑电图，伴多棘慢复合波
HP:0002395: Lower limb hyperreflexia / 下肢腱反射亢进
HP:0002396: Cogwheel rigidity / 齿轮样强直
HP:0002398: Degeneration of anterior horn cells / 前角细胞变性
HP:0002401: Stroke-like episode / 卒中样发作
HP:0002403: Positive Romberg sign / 闭目难立征阳性
HP:0002404: Thickened superior cerebellar peduncle / 小脑上脚增厚
HP:0002406: Limb dysmetria / 肢体辨距不良
HP:0002408: Cerebral arteriovenous malformation / 脑动静脉畸形
HP:0002410: Aqueductal stenosis / 中脑导水管狭窄
HP:0002411: Myokymia / 肌纤维颤搐
HP:0002414: Spina bifida / 脊柱裂
HP:0002415: Leukodystrophy / 脑白质营养不良
HP:0002416: Subependymal cysts / 室管膜下囊肿
HP:0002418: Abnormal midbrain morphology / 中脑形态异常
HP:0002419: Molar tooth sign on MRI / 磁共振磨牙征
HP:0002421: Poor head control / 头部控制能力弱
HP:0002423: Long-tract signs / 长束征
HP:0002425: Anarthria / 构音障碍
HP:0002427: Expressive aphasia / 运动性失语
HP:0002435: Meningocele / 脑脊膜膨出
HP:0002436: Occipital meningocele / 枕脊膜膨出
HP:0002438: Cerebellar malformation / 小脑畸形
HP:0002439: Frontolimbic dementia / 额叶和边缘叶痴呆
HP:0002442: Dyscalculia / 计算困难
HP:0002444: Hypothalamic hamartoma / 下丘脑错构瘤
HP:0002445: Tetraplegia / 四肢瘫
HP:0002446: Astrocytosis / 星形胶质细胞增殖
HP:0002448: Progressive encephalopathy / 进行性脑病
HP:0002450: Abnormal motor neuron morphology / 运动神经元的形态异常
HP:0002451: Limb dystonia / 肢体肌张力障碍
HP:0002453: Abnormal globus pallidus morphology / 苍白球形态异常
HP:0002454: Eye of the tiger anomaly of globus pallidus / 苍白球虎眼征
HP:0002457: Abnormal head movements / 头部运动异常
HP:0002460: Distal muscle weakness / 远端肌无力
HP:0002461: Dense calcifications in the cerebellar dentate nucleus / 小脑齿状核致密钙化
HP:0002463: Language impairment / 语言障碍
HP:0002464: Spastic dysarthria / 痉挛性构音障碍
HP:0002465: Poor speech / 少言寡语
HP:0002470: Nonprogressive cerebellar ataxia / 非进行性小脑性共济失调
HP:0002472: Small cerebral cortex / 小大脑皮层
HP:0002474: Expressive language delay / 语言表达延迟
HP:0002475: Myelomeningocele / 脊髓脊膜膨出
HP:0002476: Primitive reflex / 原始反射
HP:0002478: Progressive spastic quadriplegia / 进行性痉挛性四肢瘫
HP:0002480: Hepatic encephalopathy / 肝性脑病
HP:0002483: Bulbar signs / 球部体征
HP:0002486: Myotonia / 肌强直
HP:0002487: Hyperkinetic movements / 运动过多
HP:0002488: Acute leukemia / 急性白血病
HP:0002490: Increased CSF lactate / 脑脊液乳酸升高
HP:0002491: Spasticity of facial muscles / 面肌痉挛
HP:0002492: Morphological abnormality of the corticospinal tract / 皮质脊髓束形态异常
HP:0002493: Upper motor neuron dysfunction / 上运动神经元功能障碍/功能异常
HP:0002494: Abnormal rapid eye movement sleep / 快速眼动期睡眠异常
HP:0002495: Impaired vibratory sensation / 振动觉异常
HP:0002497: Spastic ataxia / 痉挛性共济失调
HP:0002500: Abnormal cerebral white matter morphology / 脑白质形态异常
HP:0002501: Spasticity of pharyngeal muscles / 喉头痉挛
HP:0002503: Spinocerebellar tract degeneration / 脊髓小脑束变性
HP:0002504: Calcification of the small brain vessels / 脑小血管钙化
HP:0002505: Loss of ambulation / 丧失行走能力
HP:0002506: Diffuse cerebral atrophy / 弥漫性脑萎缩
HP:0002507: Semilobar holoprosencephaly / 半脑叶前脑无裂畸形
HP:0002508: Brainstem dysplasia / 脑干发育不良
HP:0002509: Limb hypertonia / 肢体张力亢进
HP:0002510: Spastic tetraplegia / 痉挛性四肢瘫
HP:0002511: Alzheimer disease / 阿尔茨海默病
HP:0002512: Brain stem compression / 脑干受压
HP:0002514: Cerebral calcification / 脑钙化
HP:0002515: Waddling gait / 蹒跚步态
HP:0002516: Increased intracranial pressure / 颅内压增高
HP:0002518: Abnormal periventricular white matter morphology / 脑室周围白质形态异常
HP:0002519: Hypnagogic hallucinations / 睡前幻觉
HP:0002521: Hypsarrhythmia / 高度失律
HP:0002522: Areflexia of lower limbs / 下肢反射消失
HP:0002524: Cataplexy / 猝倒症
HP:0002526: Deficit in nonword repetition / 非词复述缺陷
HP:0002527: Falls / 跌倒
HP:0002528: Granulovacuolar degeneration / 颗粒空泡变性
HP:0002529: Neuronal loss in central nervous system / 中枢神经系统神经元损失
HP:0002530: Axial dystonia / 轴向肌张力障碍
HP:0002533: Abnormal posturing / 姿势异常
HP:0002536: Abnormal cortical gyration / 脑皮质沟回异常
HP:0002538: Abnormal cerebral cortex morphology / 大脑皮层形态异常
HP:0002539: Cortical dysplasia / 皮质发育不良
HP:0002540: Inability to walk / 行走不能
HP:0002542: Olivopontocerebellar atrophy / 橄榄桥脑小脑萎缩
HP:0002544: Retrocollis / 颈后倾
HP:0002545: Patchy demyelination of subcortical white matter / 皮层下白质片状脱髓鞘
HP:0002546: Incomprehensible speech / 难以理解的言语
HP:0002548: Parkinsonism with favorable response to dopaminergic medication / 对多巴胺能药物反应良好的帕金森
HP:0002549: Deficit in phonologic short-term memory / 语音短时记忆缺陷
HP:0002550: Absent facial hair / 面部毛发稀疏
HP:0002552: Trichodysplasia / 毛发发育异常
HP:0002553: Highly arched eyebrow / 高拱形眉毛
HP:0002555: Absent pubic hair / 阴毛缺失
HP:0002557: Hypoplastic nipples / 乳头发育不良
HP:0002558: Supernumerary nipple / 多乳头
HP:0002561: Absent nipple / 乳头缺失
HP:0002562: Low-set nipples / 乳头低位
HP:0002563: Constrictive pericarditis / 缩窄性心包炎
HP:0002566: Intestinal malrotation / 肠旋转不良
HP:0002570: Steatorrhea / 脂肪泻
HP:0002571: Achalasia / 贲门失弛缓症
HP:0002572: Episodic vomiting / 阵发性呕吐
HP:0002573: Hematochezia / 便血
HP:0002574: Episodic abdominal pain / 阵发性腹痛
HP:0002575: Tracheoesophageal fistula / 气管食管瘘
HP:0002576: Intussusception / 肠套叠
HP:0002577: Abnormal stomach morphology / 胃形态异常
HP:0002578: Gastroparesis / 胃轻瘫
HP:0002579: Gastrointestinal dysmotility / 胃肠动力障碍
HP:0002580: Volvulus / 肠扭转
HP:0002582: Atrophic gastritis / 萎缩性胃炎
HP:0002583: Colitis / 结肠炎
HP:0002584: Intestinal bleeding / 肠道出血
HP:0002585: Abnormality of the peritoneum / 腹膜异常
HP:0002586: Peritonitis / 腹膜炎
HP:0002587: Projectile vomiting / 喷射性呕吐
HP:0002588: Duodenal ulcer / 十二指肠溃疡
HP:0002589: Gastrointestinal atresia / 消化道闭锁
HP:0002590: Paralytic ileus / 麻痹性肠梗阻
HP:0002591: Polyphagia / 多食
HP:0002592: Gastric ulcer / 胃溃疡
HP:0002593: Intestinal lymphangiectasia / 肠淋巴管扩张
HP:0002594: Pancreatic hypoplasia / 胰腺发育不良
HP:0002595: Ileus / 肠梗阻
HP:0002597: Abnormality of the vasculature / 脉管系统异常
HP:0002599: Head titubation / 点头
HP:0002600: Hyporeflexia of lower limbs / 下肢反射减弱
HP:0002601: Paresis of extensor muscles of the big toe / 拇趾伸肌麻痹
HP:0002604: Gastrointestinal telangiectasia / 胃肠道毛细血管扩张
HP:0002605: Hepatic necrosis / 肝坏死
HP:0002607: Bowel incontinence / 大便失禁
HP:0002608: Celiac disease / 乳糜泻
HP:0002611: Cholestatic liver disease / 胆汁淤积性肝病
HP:0002612: Congenital hepatic fibrosis / 先天性肝纤维化
HP:0002613: Biliary cirrhosis / 胆汁性肝硬化
HP:0002614: Hepatic periportal necrosis / 肝脏门脉周围坏死
HP:0002615: Hypotension / 低血压
HP:0002616: Aortic root aneurysm / 主动脉根部瘤
HP:0002617: Vascular dilatation / 血管扩张
HP:0002619: Varicose veins / 静脉曲张
HP:0002621: Atherosclerosis / 动脉粥样硬化
HP:0002623: Overriding aorta / 主动脉骑跨
HP:0002624: Abnormal venous morphology / 静脉形态异常
HP:0002625: Deep venous thrombosis / 深静脉血栓形成
HP:0002626: Venous varicosities of celiac and mesenteric vessels / 腹腔和肠系膜血管静脉曲张
HP:0002627: Right aortic arch with mirror image branching / 右位主动脉弓伴镜像分支
HP:0002629: Gastrointestinal arteriovenous malformation / 胃肠道动静脉畸形
HP:0002630: Fat malabsorption / 脂肪吸收障碍
HP:0002632: Low-to-normal blood pressure / 低至正常血压
HP:0002633: Vasculitis / 血管炎
HP:0002634: Arteriosclerosis / 动脉硬化
HP:0002635: Type IV atherosclerotic lesion / IV型动脉粥样硬化病变
HP:0002636: Dilatation of an abdominal artery / 腹部动脉扩张
HP:0002637: Cerebral ischemia / 脑缺血
HP:0002638: Superficial thrombophlebitis / 浅表性血栓性静脉炎
HP:0002639: Budd-Chiari syndrome / Budd-Chiari综合征
HP:0002640: Hypertension associated with pheochromocytoma / 嗜铬细胞瘤高血压
HP:0002641: Peripheral thrombosis / 外周血栓形成
HP:0002642: Arteriovenous fistulas of celiac and mesenteric vessels / 腹腔及肠系膜血管动静脉瘘
HP:0002643: Neonatal respiratory distress / 新生儿呼吸窘迫
HP:0002644: Abnormal pelvic girdle bone morphology / 骨盆带骨形态异常
HP:0002645: Wormian bones / 缝间骨
HP:0002647: Aortic dissection / 主动脉夹层
HP:0002650: Scoliosis / 脊柱侧弯
HP:0002651: Spondyloepimetaphyseal dysplasia / 脊椎干骺端发育不良
HP:0002652: Skeletal dysplasia / 骨骼发育不良
HP:0002653: Bone pain / 骨痛
HP:0002654: Multiple epiphyseal dysplasia / 多发性骨骺发育不良
HP:0002655: Spondyloepiphyseal dysplasia / 脊椎骨骺发育不良
HP:0002656: Epiphyseal dysplasia / 骨骺发育不良
HP:0002657: Spondylometaphyseal dysplasia / 脊椎干骺端发育不良
HP:0002659: Increased susceptibility to fractures / 骨折易感性增加
HP:0002661: Painless fractures due to injury / 外伤性无痛骨折
HP:0002663: Delayed epiphyseal ossification / 骨骺骨化延迟
HP:0002664: Neoplasm / 肿瘤
HP:0002665: Lymphoma / 淋巴瘤
HP:0002666: Pheochromocytoma / 嗜铬细胞瘤
HP:0002667: Nephroblastoma / 肾母细胞瘤
HP:0002668: Paraganglioma / 副神经节瘤
HP:0002669: Osteosarcoma / 骨肉瘤
HP:0002671: Basal cell carcinoma / 基底细胞癌
HP:0002672: Gastrointestinal carcinoma / 胃肠道癌
HP:0002673: Coxa valga / 髋外翻
HP:0002676: Cloverleaf skull / 分叶状颅
HP:0002677: Small foramen magnum / 枕大孔狭窄
HP:0002678: Skull asymmetry / 头骨不对称
HP:0002679: Abnormal sella turcica morphology / 蝶鞍形态异常
HP:0002680: J-shaped sella turcica / J形蝶鞍
HP:0002681: Deformed sella turcica / 蝶鞍畸形
HP:0002682: Broad skull / 颅骨增宽
HP:0002683: Abnormal calvaria morphology / 颅骨形态异常
HP:0002684: Thickened calvaria / 颅骨过厚
HP:0002686: Prenatal maternal abnormality / 产前母体异常
HP:0002687: Abnormality of frontal sinus / 额窦异常
HP:0002688: Absent frontal sinuses / 额窦缺如
HP:0002689: Absent paranasal sinuses / 副鼻窦缺如
HP:0002690: Large sella turcica / 大蝶鞍
HP:0002691: Platybasia / 颅底扁平症
HP:0002692: Hypoplastic facial bones / 面部骨骼发育不全
HP:0002693: Abnormality of the skull base / 颅底异常
HP:0002694: Sclerosis of skull base / 颅底硬化
HP:0002696: Abnormal parietal bone morphology / 顶骨形态异常
HP:0002697: Parietal foramina / 顶骨孔
HP:0002699: Abnormal foramen magnum morphology / 枕骨大孔形态异常
HP:0002700: Large foramen magnum / 大枕骨大孔
HP:0002703: Abnormality of skull ossification / 颅骨骨化异常
HP:0002705: High, narrow palate / 腭高而窄
HP:0002707: Palate telangiectasia / 腭毛细血管扩张
HP:0002708: Prominent median palatal raphe / 腭中缝突起
HP:0002710: Commissural lip pit / 口角小窝
HP:0002711: Exaggerated median tongue furrow / 夸张的正中舌沟
HP:0002714: Downturned corners of mouth / 嘴角下弯
HP:0002715: Abnormality of the immune system / 免疫系统异常
HP:0002716: Lymphadenopathy / 淋巴结肿大
HP:0002717: Adrenal overactivity / 肾上腺过度活跃
HP:0002718: Recurrent bacterial infections / 反复细菌感染
HP:0002719: Recurrent infections / 反复感染
HP:0002720: Decreased circulating IgA level / 循环IgA下降
HP:0002721: Immunodeficiency / 免疫缺陷
HP:0002722: Recurrent abscess formation / 反复脓肿形成
HP:0002723: Absence of bactericidal oxidative respiratory burst in phagocytes / 吞噬细胞中杀菌性氧化呼吸爆发的缺失
HP:0002724: Recurrent Aspergillus infections / 反复曲霉菌感染
HP:0002725: Systemic lupus erythematosus / 系统性红斑狼疮
HP:0002726: Recurrent Staphylococcus aureus infections / 反复金黄色葡萄球菌感染
HP:0002728: Chronic mucocutaneous candidiasis / 慢性皮肤粘膜念珠菌病
HP:0002729: Follicular hyperplasia / 淋巴滤泡增生
HP:0002730: Chronic noninfectious lymphadenopathy / 慢性非感染性淋巴结肿大
HP:0002731: Decreased lymphocyte apoptosis / 淋巴细胞凋亡减少
HP:0002732: Lymph node hypoplasia / 淋巴结发育不全
HP:0002733: Abnormality of the lymph nodes / 淋巴结异常
HP:0002737: Thick skull base / 厚颅底
HP:0002738: Hypoplastic frontal sinuses / 额窦发育不全
HP:0002740: Recurrent E. coli infections / 反复大肠杆菌感染
HP:0002741: Recurrent Serratia marcescens infections / 反复粘质沙雷氏菌感染
HP:0002742: Recurrent Klebsiella infections / 反复克雷伯杆菌感染
HP:0002743: Recurrent enteroviral infections / 反复肠病毒感染
HP:0002744: Bilateral cleft lip and palate / 双侧唇腭裂
HP:0002745: Oral leukoplakia / 口腔白斑
HP:0002747: Respiratory insufficiency due to muscle weakness / 肌肉无力导致的呼吸功能不全
HP:0002748: Rickets / 佝偻病
HP:0002749: Osteomalacia / 软骨病。
HP:0002750: Delayed skeletal maturation / 骨成熟延迟
HP:0002751: Kyphoscoliosis / 脊柱后侧凸
HP:0002752: Sparse bone trabeculae / 骨小梁稀疏
HP:0002753: Thin bony cortex / 骨皮质薄
HP:0002754: Osteomyelitis / 骨髓炎
HP:0002756: Pathologic fracture / 病理性骨折
HP:0002757: Recurrent fractures / 复发性骨折
HP:0002758: Osteoarthritis / 骨关节炎
HP:0002761: Generalized joint laxity / 周身关节松弛
HP:0002762: Multiple exostoses / 多发性外生骨疣
HP:0002763: Abnormal cartilage morphology / 软骨形态异常
HP:0002764: Stippled chondral calcification / 软骨点状钙化
HP:0002766: Relatively short spine / 相对性短脊柱
HP:0002777: Tracheal stenosis / 气管狭窄
HP:0002778: Abnormal tracheal morphology / 气管形态异常
HP:0002779: Tracheomalacia / 气管软化
HP:0002780: Bronchomalacia / 支气管软化
HP:0002781: Upper airway obstruction / 上气道阻塞
HP:0002783: Recurrent lower respiratory tract infections / 反复下呼吸道感染
HP:0002786: Tracheobronchomalacia / 气管支气管软化
HP:0002787: Tracheal calcification / 气管钙化
HP:0002788: Recurrent upper respiratory tract infections / 复发性上呼吸道感染
HP:0002789: Tachypnea / 呼吸过速
HP:0002790: Neonatal breathing dysregulation / 新生儿呼吸调节异常
HP:0002791: Hypoventilation / 通气不足
HP:0002792: Reduced vital capacity / 肺活量减少
HP:0002793: Abnormal pattern of respiration / 呼吸模式异常
HP:0002795: Abnormal respiratory system physiology / 呼吸系统生理异常
HP:0002797: Osteolysis / 骨质溶解
HP:0002803: Congenital contracture / 先天性挛缩
HP:0002804: Arthrogryposis multiplex congenita / 先天性多发性关节挛缩
HP:0002805: Accelerated bone age after puberty / 青春期后骨龄加速
HP:0002808: Kyphosis / 脊柱后凸畸形（驼背）
HP:0002810: Dumbbell-shaped metaphyses / 哑铃状干骺端
HP:0002812: Coxa vara / 髋内翻
HP:0002813: Abnormality of limb bone morphology / 四肢骨骼形态异常
HP:0002814: Abnormality of the lower limb / 下肢异常
HP:0002815: Abnormality of the knee / 膝关节异常
HP:0002816: Genu recurvatum / 膝反屈
HP:0002817: Abnormality of the upper limb / 上肢异常
HP:0002818: Abnormal morphology of the radius / 桡骨形态异常
HP:0002821: Neuropathic arthropathy / 神经性关节病
HP:0002822: Hyperplasia of the femoral trochanters / 股骨粗隆增生
HP:0002823: Abnormality of femur morphology / 股骨形态异常
HP:0002825: Caudal appendage / 尾部附属物
HP:0002826: Halberd-shaped pelvis / 戟形骨盆
HP:0002827: Hip dislocation / 髋关节脱位
HP:0002828: Multiple joint contractures / 多发性关节挛缩
HP:0002829: Arthralgia / 关节疼痛
HP:0002831: Long coccyx / 长尾骨
HP:0002832: Calcific stippling / 钙化点
HP:0002833: Cystic angiomatosis of bone / 骨囊性血管瘤病
HP:0002834: Flared femoral metaphysis / 喇叭状股骨干骺端
HP:0002835: Aspiration / 误吸
HP:0002836: Bladder exstrophy / 膀胱外翻
HP:0002837: Recurrent bronchitis / 复发性支气管炎
HP:0002839: Urinary bladder sphincter dysfunction / 膀胱括约肌功能障碍
HP:0002840: Lymphadenitis / 淋巴结炎
HP:0002841: Recurrent fungal infections / 反复真菌感染
HP:0002842: Recurrent Burkholderia cepacia infections / 反复伯克霍尔德菌感染
HP:0002843: Abnormal T cell morphology / T细胞形态异常
HP:0002846: Abnormal B cell morphology / B细胞形态异常
HP:0002847: Impaired memory B cell generation / 记忆B细胞生成障碍
HP:0002848: Decreased specific anti-polysaccharide antibody level / 特异性抗多糖抗体水平降低
HP:0002849: Absence of lymph node germinal center / 淋巴结生发中心缺失
HP:0002850: Decreased circulating total IgM / 循环总IgM下降
HP:0002851: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells / CD4和CD8双阴性的α-β 调节性 T 细胞比例增高
HP:0002853: Increased proportion of HLA DR+ T cells / HLA-DR阳性T细胞比例多
HP:0002857: Genu valgum / 膝外翻
HP:0002858: Meningioma / 脑膜瘤
HP:0002859: Rhabdomyosarcoma / 横纹肌肉瘤
HP:0002860: Squamous cell carcinoma / 鳞状细胞癌
HP:0002861: Melanoma / 黑色素瘤
HP:0002862: Bladder carcinoma / 膀胱癌
HP:0002863: Myelodysplasia / 骨髓增生异常
HP:0002864: Paraganglioma of head and neck / 头部和颈部的副神经节瘤
HP:0002865: Medullary thyroid carcinoma / 甲状腺髓样癌
HP:0002866: Hypoplastic iliac wing / 髂翼发育不全
HP:0002867: Abnormal ilium morphology / 髂骨形态异常
HP:0002868: Narrow iliac wing / 髂骨翼狭窄
HP:0002869: Flared iliac wing / 喇叭状髂骨翼
HP:0002870: Obstructive sleep apnea / 阻塞性睡眠呼吸暂停
HP:0002871: Central apnea / 中枢性呼吸暂停
HP:0002872: Apneic episodes precipitated by illness, fatigue, stress / 因疾病、疲劳、紧张而导致的呼吸暂停发作
HP:0002875: Exertional dyspnea / 劳力性呼吸困难
HP:0002876: Episodic tachypnea / 阵发性呼吸急促
HP:0002877: Nocturnal hypoventilation / 夜间低通气
HP:0002878: Respiratory failure / 呼吸衰竭
HP:0002879: Anisospondyly / 椎体大小不等
HP:0002882: Sudden episodic apnea / 突然发作性呼吸暂停
HP:0002883: Hyperventilation / 过度通气
HP:0002884: Hepatoblastoma / 肝母细胞瘤
HP:0002885: Medulloblastoma / 髓母细胞瘤
HP:0002886: Vagal paraganglioma / 迷走神经副神经节瘤
HP:0002888: Ependymoma / 室管膜瘤
HP:0002890: Thyroid carcinoma / 甲状腺癌
HP:0002891: Uterine leiomyosarcoma / 子宫平滑肌肉瘤
HP:0002893: Pituitary adenoma / 垂体腺瘤
HP:0002894: Neoplasm of the pancreas / 胰腺肿瘤
HP:0002895: Papillary thyroid carcinoma / 甲状腺乳头状癌
HP:0002896: Neoplasm of the liver / 肝脏肿瘤
HP:0002897: Parathyroid adenoma / 甲状旁腺腺瘤
HP:0002898: Embryonal neoplasm / 胚胎性肿瘤
HP:0002900: Hypokalemia / 低钾血症
HP:0002901: Hypocalcemia / 低钙血症
HP:0002902: Hyponatremia / 低钠血症
HP:0002904: Hyperbilirubinemia / 高胆红素血症
HP:0002905: Hyperphosphatemia / 高磷血症
HP:0002907: Microscopic hematuria / 镜下血尿症
HP:0002908: Conjugated hyperbilirubinemia / 高结合胆红素血症
HP:0002909: Generalized aminoaciduria / 全谱氨基酸尿
HP:0002910: Elevated hepatic transaminase / 肝脏转氨酶升高
HP:0002912: Methylmalonic acidemia / 甲基丙二酸血症
HP:0002913: Myoglobinuria / 肌红蛋白尿
HP:0002914: Hyperchloriduria / 高氯尿症
HP:0002916: Abnormality of chromosome segregation / 染色体分离异常
HP:0002917: Hypomagnesemia / 低镁血症
HP:0002918: Hypermagnesemia / 高镁血症
HP:0002919: Ketonuria / 酮尿
HP:0002920: Decreased circulating ACTH level / 血促肾上腺皮质激素水平降低
HP:0002921: Abnormality of the cerebrospinal fluid / 脑脊液异常
HP:0002922: Increased CSF protein / 脑脊液蛋白升高
HP:0002923: Rheumatoid factor positive / 类风湿因子阳性
HP:0002925: Elevated circulating thyroid-stimulating hormone concentration / 血液促甲状腺激素增多
HP:0002926: Abnormality of thyroid physiology / 甲状腺生理功能异常
HP:0002927: Histidinuria / 组氨酸尿症
HP:0002928: Decreased activity of the pyruvate dehydrogenase complex / 丙酮酸脱氢酶（PDH）复合物活性降低
HP:0002929: Leydig cell insensitivity to gonadotropin / 睾丸间质细胞(莱氏细胞）对促性腺激素不敏感
HP:0002930: Impaired sensitivity to thyroid hormone / 甲状腺激素受体缺陷
HP:0002932: Aldehyde oxidase deficiency / 醛氧化酶缺乏症
HP:0002933: Ventral hernia / 腹疝
HP:0002936: Distal sensory impairment / 远端感觉障碍
HP:0002937: Hemivertebrae / 半椎体
HP:0002938: Lumbar hyperlordosis / 腰椎前凸过度
HP:0002942: Thoracic kyphosis / 胸椎后凸
HP:0002943: Thoracic scoliosis / 胸部脊柱侧弯
HP:0002944: Thoracolumbar scoliosis / 胸腰脊柱侧弯
HP:0002945: Intervertebral space narrowing / 椎间隙变窄
HP:0002946: Supernumerary vertebrae / 额外椎骨
HP:0002947: Cervical kyphosis / 颈椎后凸畸形
HP:0002948: Vertebral fusion / 椎体融合
HP:0002949: Fused cervical vertebrae / 颈椎融合
HP:0002951: Partial absence of cerebellar vermis / 小脑蚓部部分缺如
HP:0002953: Vertebral compression fracture / 椎体压缩性骨折
HP:0002955: Granulomatosis / 肉芽肿病
HP:0002958: Immune dysregulation / 免疫失调
HP:0002959: Impaired Ig class switch recombination / 免疫球蛋白类别转换重组障碍
HP:0002960: Autoimmunity / 自身免疫
HP:0002961: Dysgammaglobulinemia / 异常丙种球蛋白血症
HP:0002963: Abnormal delayed hypersensitivity skin test / 迟发型皮肤超敏试验异常
HP:0002965: Cutaneous anergy / 皮肤失能
HP:0002967: Cubitus valgus / 肘外翻
HP:0002970: Genu varum / 膝内翻
HP:0002971: Absent microvilli on the surface of peripheral blood lymphocytes / 外周血淋巴细胞表面微绒毛缺失
HP:0002972: Reduced delayed hypersensitivity / 迟发型超敏反应降低
HP:0002973: Abnormal forearm morphology / 前臂形态异常
HP:0002974: Radioulnar synostosis / 桡尺骨融合
HP:0002977: Aplasia/Hypoplasia involving the central nervous system / 中枢神经系统发育不全或不发育
HP:0002979: Bowing of the legs / 腿弯曲
HP:0002980: Femoral bowing / 股骨弯曲
HP:0002981: Abnormality of the calf / 腓部异常
HP:0002982: Tibial bowing / 胫骨弯曲
HP:0002983: Micromelia / 短肢
HP:0002984: Hypoplasia of the radius / 桡骨发育不全
HP:0002986: Radial bowing / 桡骨弯曲
HP:0002987: Elbow flexion contracture / 肘屈曲挛缩
HP:0002990: Fibular aplasia / 腓骨发育不良
HP:0002991: Abnormality of fibula morphology / 腓骨形态异常
HP:0002992: Abnormality of tibia morphology / 胫骨形态异常
HP:0002996: Limited elbow movement / 肘运动受限
HP:0002999: Patellar dislocation / 髌骨脱位
HP:0003001: Glomus jugular tumor / 颈静脉球瘤
HP:0003002: Breast carcinoma / 乳腺癌
HP:0003003: Colon cancer / 结肠癌
HP:0003005: Ganglioneuroma / 神经节瘤
HP:0003006: Neuroblastoma / 神经母细胞瘤
HP:0003009: Enhanced neurotoxicity of vincristine / 长春新碱的神经毒性增强
HP:0003010: Prolonged bleeding time / 出血时间延长
HP:0003011: Abnormality of the musculature / 肌肉组织异常
HP:0003013: Bulging epiphyses / 骨骺凸出
HP:0003015: Flared metaphysis / 喇叭状干骺端
HP:0003016: Metaphyseal widening / 干骺端增宽
HP:0003019: Abnormality of the wrist / 手腕异常
HP:0003020: Enlargement of the wrists / 手腕膨大
HP:0003021: Metaphyseal cupping / 干骺端内陷
HP:0003022: Hypoplasia of the ulna / 尺骨发育不良
HP:0003023: Bowing of limbs due to multiple fractures / 多发骨折致肢体弯曲
HP:0003025: Metaphyseal irregularity / 干骺端不规则
HP:0003026: Short long bone / 长骨短
HP:0003027: Mesomelia / 肢体中部不规则缩短
HP:0003028: Abnormality of the ankles / 脚踝异常
HP:0003029: Enlargement of the ankles / 脚踝膨大
HP:0003031: Ulnar bowing / 尺骨弯曲
HP:0003034: Diaphyseal sclerosis / 骨干硬化症
HP:0003037: Enlarged joints / 关节膨大
HP:0003038: Fibular hypoplasia / 腓骨发育不良
HP:0003040: Arthropathy / 关节病
HP:0003041: Humeroradial synostosis / 肱桡骨性融合
HP:0003042: Elbow dislocation / 肘关节脱位
HP:0003043: Abnormal shoulder morphology / 肩部形态异常
HP:0003044: Shoulder flexion contracture / 肩关节屈曲挛缩
HP:0003045: Abnormal patella morphology / 髌骨形态异常
HP:0003048: Radial head subluxation / 桡骨头半脱位
HP:0003049: Ulnar deviation of the wrist / 手腕向尺侧偏斜
HP:0003051: Enlarged metaphyses / 干骺端膨大
HP:0003053: Epiphyseal deformities of tubular bones / 管状骨骨骺变形
HP:0003057: Tetraamelia / 四肢缺如
HP:0003059: Abnormality of the radioulnar joints / 桡尺关节异常
HP:0003063: Abnormality of the humerus / 肱骨异常
HP:0003065: Patellar hypoplasia / 髌骨发育不全
HP:0003066: Limited knee extension / 伸膝受限
HP:0003067: Madelung deformity / 马德隆畸形
HP:0003068: Madelung-like forearm deformities / 马德隆样前臂畸形
HP:0003070: Elbow ankylosis / 肘运动受限
HP:0003071: Flattened epiphysis / 扁平骨骺
HP:0003072: Hypercalcemia / 高钙血症
HP:0003073: Hypoalbuminemia / 低蛋白血症
HP:0003074: Hyperglycemia / 高血糖
HP:0003075: Hypoproteinemia / 低蛋白血症
HP:0003076: Glycosuria / 糖尿
HP:0003077: Hyperlipidemia / 高脂血症
HP:0003079: Defective DNA repair after ultraviolet radiation damage / 紫外线辐射后DNA损伤修复缺陷
HP:0003080: Hydroxyprolinuria / 羟脯氨酸尿症
HP:0003081: Increased urinary potassium / 尿钾增加
HP:0003083: Dislocated radial head / 桡骨头脱位
HP:0003084: Fractures of the long bones / 长骨骨折
HP:0003085: Long fibula / 长腓骨
HP:0003086: Acromesomelia / 肢端发育不良
HP:0003088: Premature osteoarthritis / 早发性关节炎
HP:0003089: Hamstring contractures / 腘绳肌挛缩
HP:0003090: Hypoplasia of the capital femoral epiphysis / 股骨近端骨骺发育不全
HP:0003091: Trophic limb changes / 营养性肢体变化
HP:0003093: Limited hip extension / 髋关节伸展受限
HP:0003095: Septic arthritis / 化脓性关节炎
HP:0003097: Short femur / 短股骨
HP:0003099: Fibular overgrowth / 腓骨过度生长
HP:0003100: Slender long bone / 长骨修长
HP:0003102: Increased carrying angle / 前臂外展偏角增加
HP:0003103: Abnormal cortical bone morphology / 皮质骨形态异常
HP:0003105: Protuberances at ends of long bones / 长骨末端突起
HP:0003106: Subperiosteal bone resorption / 骨膜下骨质吸收
HP:0003107: Abnormal circulating cholesterol concentration / 胆固醇代谢异常
HP:0003108: Hyperglycinuria / 高甘氨酸尿症
HP:0003109: Hyperphosphaturia / 高磷酸盐尿症
HP:0003110: Abnormality of urine homeostasis / 尿稳态平衡异常
HP:0003111: Abnormal blood ion concentration / 离子稳态平衡异常
HP:0003112: Abnormal circulating amino acid concentration / 血清氨基酸水平异常
HP:0003113: Hypochloremia / 低氯血症
HP:0003115: Abnormal EKG / 异常心电图
HP:0003117: Abnormal circulating hormone concentration / 血液激素水平异常
HP:0003118: Increased circulating cortisol level / 血皮质醇水平增加
HP:0003119: Abnormal circulating lipid concentration / 脂代谢异常
HP:0003121: Limb joint contracture / 肢体关节挛缩
HP:0003124: Hypercholesterolemia / 高胆固醇血症
HP:0003125: Reduced factor VIII activity / 凝血因子VIII活性减低
HP:0003126: Low-molecular-weight proteinuria / 低分子量蛋白尿
HP:0003127: Hypocalciuria / 低钙尿症
HP:0003128: Lactic acidosis / 乳酸酸中毒
HP:0003130: Abnormal peripheral myelination / 外周神经髓鞘异常
HP:0003131: Cystinuria / 胱氨酸尿症
HP:0003133: Abnormality of the spinocerebellar tracts / 脊髓小脑束异常
HP:0003134: Abnormality of peripheral nerve conduction / 周围神经传导异常
HP:0003137: Prolinuria / 脯氨酸尿
HP:0003138: Increased blood urea nitrogen / 血液尿素氮升高
HP:0003139: Panhypogammaglobulinemia / 全丙种球蛋白减少血症
HP:0003140: T-wave inversion in the right precordial leads / 右胸导联T波倒置
HP:0003141: Increased LDL cholesterol concentration / 高β-脂蛋白血症
HP:0003142: Excessive purine production / 嘌呤产生过量
HP:0003144: Increased serum serotonin / 血清5-羟色胺（血清素）水平升高
HP:0003145: Decreased adenosylcobalamin / 腺苷钴胺素减少
HP:0003146: Hypocholesterolemia / 低胆固醇血症
HP:0003148: Elevated serum acid phosphatase / 血清酸性磷酸酶升高
HP:0003149: Hyperuricosuria / 高尿酸尿症
HP:0003150: Glutaric aciduria / 戊二酸尿症
HP:0003153: Cystathioninuria / 胱硫醚尿症
HP:0003154: Increased circulating ACTH level / 血促肾上腺皮质激素（ACTH）水平升高
HP:0003155: Elevated circulating alkaline phosphatase concentration / 碱性磷酸酶升高
HP:0003158: Hyposthenuria / 低渗尿
HP:0003159: Hyperoxaluria / 高草酸尿症
HP:0003160: Abnormal isoelectric focusing of serum transferrin / 血清转铁蛋白的等电位聚焦异常
HP:0003161: 4-Hydroxyphenylpyruvic aciduria / 4-羟基苯丙酮酸尿症
HP:0003162: Fasting hypoglycemia / 空腹低血糖
HP:0003163: Elevated urinary delta-aminolevulinic acid / 尿δ-氨基乙酰丙酸水平升高
HP:0003164: Hypothalamic gonadotropin-releasing hormone deficiency / 下丘脑促性腺激素释放激素缺乏症
HP:0003165: Elevated circulating parathyroid hormone level / 血甲状旁腺激素水平升高
HP:0003166: Increased urinary taurine / 尿牛磺酸增加
HP:0003167: Carnosinuria / 肌肽尿