TaoMedAI/RareMedData huggingface dataset:
HP:0012543: Hemosiderinuria / 含铁血黄素尿症
HP:0012544: Elevated aldolase level / 醛缩酶水平升高
HP:0012545: Reduced aldolase level / 醛缩酶水平降低
HP:0012546: Skewed maternal X inactivation / 母亲X染色体偏向性失活
HP:0012547: Abnormal involuntary eye movements / 不自主眼球运动异常
HP:0012548: Fatty replacement of skeletal muscle / 骨骼肌脂肪浸润
HP:0012549: Conjunctival lipoma / 结膜脂肪瘤
HP:0012550: Colonic varices / 结肠静脉曲张
HP:0012551: Absent neutrophil specific granules / 中性粒细胞特定颗粒缺乏
HP:0012552: Increased neutrophil nuclear projections / 中性粒细胞核突起增加
HP:0012553: Hypoplastic thumbnail / 拇指甲发育不全
HP:0012554: Absent thumbnail / 拇指甲缺失
HP:0012555: Absent nail of hallux / 拇趾甲缺失
HP:0012556: Hyperbeta-alaninemia / 高β丙氨酸血症
HP:0012557: EEG with centrotemporal focal spike waves / 脑电图伴中央颞区棘波
HP:0012558: Abnormal T3/T4 ratio / T3/T4比值异常
HP:0012559: Increased T3/T4 ratio / T3/T4比值升高
HP:0012560: Decreased T3/T4 ratio / T3/T4比值降低
HP:0012561: Unicuspid aortic valve / 单瓣主动脉瓣
HP:0012562: Premature epimetaphyseal fusion in hand / 手干骺端过早融合
HP:0012563: Premature epimetaphyseal fusion in foot / 足干骺端过早融合
HP:0012564: Premature epimetaphyseal fusion in tibia / 胫骨干骺端过早融合
HP:0012565: Premature epimetaphyseal fusion in fibula / 腓骨干骺端过早融合
HP:0012566: Premature epimetaphyseal fusion in radius / 桡骨干骺端过早融合
HP:0012567: Premature epimetaphyseal fusion in ulna / 尺骨干骺端过早融合
HP:0012568: Lower eyelid edema / 下眼睑浮肿
HP:0012569: Delayed menarche / 月经初潮延迟
HP:0012570: Synovial sarcoma / 滑膜肉瘤
HP:0012571: Ureter fissus / 输尿管分叉
HP:0012572: Ureter duplex / 双重输尿管
HP:0012573: Global proximal tubulopathy / 全近端肾小管病
HP:0012574: Mesangial hypercellularity / 肾小球系膜增生
HP:0012575: Abnormal nephron morphology / 肾单位形态异常
HP:0012576: Glomerular C3 deposition / C3肾小球病
HP:0012577: Thin glomerular basement membrane / 肾小球基底膜变薄
HP:0012578: Membranous nephropathy / 膜性肾病
HP:0012579: Minimal change glomerulonephritis / 微小病变性肾小球肾炎
HP:0012580: Calcium phosphate nephrolithiasis / 磷酸钙肾结石
HP:0012581: Simple renal cyst / 单纯性肾囊肿
HP:0012582: Bilateral renal dysplasia / 双侧肾发育不良
HP:0012583: Unilateral renal hypoplasia / 单侧肾发育不良
HP:0012584: Bilateral renal hypoplasia / 双侧肾发育不良
HP:0012585: Renal atrophy / 肾萎缩
HP:0012586: Bilateral renal atrophy / 双侧肾萎缩
HP:0012587: Macroscopic hematuria / 肉眼血尿
HP:0012588: Steroid-resistant nephrotic syndrome / 激素耐受性肾病综合征
HP:0012589: Multidrug-resistant nephrotic syndrome / 多药耐受型肾病综合征
HP:0012590: Abnormal urine output / 尿分泌量异常
HP:0012591: Abnormal urinary electrolyte concentration / 尿电解质浓度异常
HP:0012592: Albuminuria / 蛋白尿
HP:0012593: Nephrotic range proteinuria / 肾性蛋白尿排泄增高
HP:0012594: Moderate albuminuria / 微量白蛋白尿
HP:0012595: Mild proteinuria / 轻度蛋白尿
HP:0012596: Moderate proteinuria / 中度蛋白尿
HP:0012597: Heavy proteinuria / 严重蛋白尿
HP:0012598: Abnormal urine potassium concentration / 尿钾浓度异常
HP:0012599: Abnormal urine phosphate concentration / 尿磷酸盐浓度异常
HP:0012600: Abnormal urine chloride concentration / 尿液中氯离子浓度异常
HP:0012601: Hypochloriduria / 低氯化物尿
HP:0012602: Renal chloride wasting / 肾源性氯化物丢失
HP:0012603: Abnormal urine sodium concentration / 尿钠浓度异常
HP:0012604: Hyponatriuria / 低钠尿
HP:0012605: Hypernatriuria / 高钠尿症
HP:0012606: Renal sodium wasting / 肾源性钠流失
HP:0012607: Abnormal urine magnesium concentration / 尿中镁离子浓度异常
HP:0012608: Hypermagnesiuria / 高镁尿症
HP:0012609: Hypomagnesiuria / 低镁尿症
HP:0012610: Abnormality of urinary uric acid level / 尿中尿酸水平异常
HP:0012612: Abnormal urinary sulfate concentration / 尿中硫酸盐浓度异常
HP:0012613: Increased urinary sulfate / 尿中硫酸盐增高
HP:0012614: Abnormal urine cytology / 尿液细胞学异常
HP:0012615: Cylindruria / 管型尿
HP:0012616: Leukocyte cylindruria / 白细胞管型尿
HP:0012617: Erythrocyte cylindruria / 红细胞管型尿
HP:0012618: Urachal cyst / 脐尿管囊肿
HP:0012619: Multiple bladder diverticula / 多发性膀胱憩室症
HP:0012620: Cloacal abnormality / 泄殖腔畸形
HP:0012621: Persistent cloaca / 泄殖腔遗存
HP:0012622: Chronic kidney disease / 慢性肾病
HP:0012623: Stage 1 chronic kidney disease / 慢性肾病1期
HP:0012624: Stage 2 chronic kidney disease / 慢性肾病2期
HP:0012625: Stage 3 chronic kidney disease / 慢性肾病3期
HP:0012626: Stage 4 chronic kidney disease / 慢性肾病4期
HP:0012627: Pseudoexfoliation / 假性囊膜剥脱
HP:0012628: Abnormal suspensory ligament of lens morphology / 晶状体悬韧带形态异常
HP:0012629: Phakodonesis / 晶状体颤抖
HP:0012630: Abnormal trabecular meshwork morphology / 小梁网形态异常
HP:0012631: Pigment deposition in the trabecular meshwork / 小梁网色素沉积
HP:0012632: Abnormal intraocular pressure / 眼内压异常
HP:0012633: Asymmetry of intraocular pressure / 眼压不对称
HP:0012634: Iris pigment dispersion / 虹膜色素播散
HP:0012635: Iris hypoperfusion / 虹膜灌注不足
HP:0012636: Retinal vein occlusion / 视网膜静脉阻塞
HP:0012637: Renal calcium wasting / 肾源性钙流失
HP:0012638: Abnormal nervous system physiology / 神经系统生理功能异常
HP:0012639: Abnormal nervous system morphology / 神经系统形态异常
HP:0012640: Abnormality of intracranial pressure / 颅内压异常
HP:0012641: Decreased intracranial pressure / 颅内压降低
HP:0012642: Cerebellar agenesis / 小脑发育不全
HP:0012643: Foveal hypopigmentation / 中心凹脱色素改变
HP:0012644: Increased caudate lactate level / 尾状核乳酸水平升高
HP:0012645: Enlarged peripheral nerve / 周围神经增粗
HP:0012646: Retractile testis / 睾丸回缩
HP:0012647: Abnormal inflammatory response / 异常炎性反应
HP:0012648: Decreased inflammatory response / 炎症反应减弱
HP:0012649: Increased inflammatory response / 炎症反应增强
HP:0012650: Perisylvian polymicrogyria / 外侧裂周区多小脑回
HP:0012651: Abasia / 行走不稳
HP:0012652: Exercise-induced asthma / 运动诱发的哮喘
HP:0012653: Status asthmaticus / 哮喘持续状态
HP:0012654: Abnormal CSF dopamine concentration / 脑脊液多巴胺水平异常
HP:0012655: Elevated CSF dopamine level / 脑脊液多巴胺水平增加
HP:0012656: Reduced CSF dopamine level / 脑脊液多巴胺水平降低
HP:0012657: Abnormal brain positron emission tomography / 脑部正电子发射断层扫描异常
HP:0012658: Abnormal brain FDG positron emission tomography / 脑FDG正电子发射断层扫描异常
HP:0012659: Prefrontal hypometabolism in FDG PET / FDG PET前额叶代谢减少
HP:0012660: Thalamic hypometabolism in FDG PET / FDG PET丘脑代谢减退
HP:0012661: Hypothalamic hypometabolism in FDG PET / FDG PET下丘脑代谢减退
HP:0012662: Parietal hypometabolism in FDG PET / FDG PET顶叶低代谢
HP:0012663: Mildly reduced left ventricular ejection fraction / 左心室射血分数轻度降低
HP:0012664: Reduced left ventricular ejection fraction / 左心室射血分数降低
HP:0012665: Moderately reduced left ventricular ejection fraction / 左心室射血分数中度降低
HP:0012666: Severely reduced left ventricular ejection fraction / 左心室射血分数严重降低
HP:0012667: Regional left ventricular wall motion abnormality / 区域性左室壁运动异常
HP:0012668: Vasovagal syncope / 血管迷走神经性晕厥
HP:0012669: Carotid sinus syncope / 颈动脉窦性晕厥
HP:0012670: Orthostatic syncope / 直立性晕厥
HP:0012671: Abulia / 意志力丧失
HP:0012672: Akinetic mutism / 运动不能缄默症
HP:0012673: Aplasia of the upper vagina / 阴道上段发育不全
HP:0012674: Aplasia of the lower vagina / 阴道下段发育不全
HP:0012675: Iron accumulation in brain / 脑内铁累积
HP:0012676: Copper accumulation in brain / 大脑铜积聚
HP:0012678: Iron accumulation in substantia nigra / 黑质铁累积
HP:0012679: Widened interpedicular distance / 椎弓根间距增加
HP:0012680: Abnormality of the pineal gland / 松果体异常
HP:0012681: Abnormal pineal morphology / 松果体形态异常
HP:0012682: Pineal gland calcification / 松果体钙化
HP:0012683: Pineal cyst / 松果体囊肿
HP:0012684: Abnormal pineal volume / 松果体体积异常
HP:0012685: Decreased pineal volume / 松果体体积减小
HP:0012686: Increased pineal volume / 松果体体积增加
HP:0012687: Agenesis of pineal gland / 松果体发育缺失
HP:0012688: Abnormality of pineal physiology / 松果体生理异常
HP:0012689: Abnormal pineal melatonin secretion / 松果体褪黑素分泌异常
HP:0012690: T2 hypointense thalamus / 丘脑T2序列低信号
HP:0012691: Focal T2 hypointense thalamic lesion / 丘脑局灶性T2低信号病变
HP:0012692: Focal T2 hyperintense thalamic lesion / 丘脑局灶性T2高信号病变
HP:0012693: Abnormal thalamic size / 丘脑大小异常
HP:0012694: Enlarged thalamic volume / 丘脑体积增大
HP:0012695: Decreased thalamic volume / 丘脑体积减少
HP:0012696: Abnormal thalamic MRI signal intensity / 丘脑核磁共振信号强度异常
HP:0012697: Small basal ganglia / 小基底神经节
HP:0012698: Cerebellar gliosis / 小脑胶质细胞增生
HP:0012699: Anomaly of lower limb diaphyses / 下肢骨干异常
HP:0012700: Abnormal large intestine physiology / 大肠生理功能异常
HP:0012701: Bowel urgency / 排便紧迫感
HP:0012702: Tenesmus / 里急后重
HP:0012703: Abnormal subarachnoid space morphology / 蛛网膜下腔形态异常
HP:0012704: Widened subarachnoid space / 蛛网膜下腔增宽
HP:0012705: Abnormal metabolic brain imaging by MRS / 通过MRS发现的脑代谢异常
HP:0012706: Elevated brain choline level by MRS / MRS发现脑胆碱水平升高
HP:0012707: Elevated brain lactate level by MRS / MRS发现乳酸水平升高
HP:0012708: Reduced brain N-acetyl aspartate level by MRS / 通过MRS发现N-乙酰天门冬氨酸水平降低
HP:0012709: Abnormal brain choline/creatine ratio by MRS / 磁共振脑胆碱/肌酐比值异常
HP:0012710: Ingrown nail / 嵌甲
HP:0012711: Delayed ossification of vertebral epiphysis / 椎体骨骺骨化延迟
HP:0012712: Mild hearing impairment / 轻度听力损失
HP:0012713: Moderate hearing impairment / 中度听力损失
HP:0012714: Severe hearing impairment / 重度耳聋
HP:0012715: Profound hearing impairment / 极重度听力损失
HP:0012716: Moderate conductive hearing impairment / 中度传导性听力损失
HP:0012717: Severe conductive hearing impairment / 重度传导性耳聋
HP:0012718: Morphological abnormality of the gastrointestinal tract / 胃肠道形态异常
HP:0012719: Functional abnormality of the gastrointestinal tract / 胃肠道功能异常
HP:0012720: Neoplasm of the nose / 鼻肿瘤
HP:0012721: Venous malformation / 静脉畸形
HP:0012722: Heart block / 心脏传导阻滞
HP:0012723: Sinoatrial block / 窦房传导阻滞
HP:0012724: Upper eyelid edema / 上眼睑水肿
HP:0012725: Cutaneous syndactyly / 皮肤性并指畸形
HP:0012726: Episodic hypokalemia / 阵发性低钾血症
HP:0012727: Thoracic aortic aneurysm / 胸主动脉瘤
HP:0012728: Fusiform descending thoracic aortic aneurysm / 梭形胸降主动脉瘤
HP:0012729: Saccular descending thoracic aortic aneurysm / 囊状胸降主动脉瘤
HP:0012730: Aglossia / 无舌畸形
HP:0012731: Ectopic anterior pituitary gland / 异位垂体前叶腺
HP:0012732: Anorectal anomaly / 肛肠异常
HP:0012733: Macule / 斑疹
HP:0012734: Ketotic hypoglycemia / 酮症性低血糖症
HP:0012735: Cough / 咳嗽
HP:0012736: Profound global developmental delay / 严重的全脑发育迟缓
HP:0012737: Small intestinal polyp / 小肠息肉
HP:0012738: Agenesis of canine / 犬齿发育不全
HP:0012739: Agenesis of the small intestine / 小肠发育不全
HP:0012740: Papilloma / 乳头状瘤
HP:0012741: Unilateral cryptorchidism / 单侧隐睾
HP:0012742: Thin fingernail / 薄指甲
HP:0012743: Abdominal obesity / 腹型肥胖
HP:0012744: Femoral aplasia / 股骨发育不全
HP:0012745: Short palpebral fissure / 短睑裂
HP:0012746: Thin toenail / 薄趾甲
HP:0012747: Abnormal brainstem MRI signal intensity / 脑干核磁共振信号强度异常
HP:0012748: Focal T2 hyperintense brainstem lesion / 脑干局灶性T2高信号病变
HP:0012749: Focal T2 hypointense brainstem lesion / 脑干局灶性T2低信号病变
HP:0012750: T2 hypointense brainstem / 脑干T2序列低信号
HP:0012751: Abnormal basal ganglia MRI signal intensity / 核磁共振基底节异常信
HP:0012752: Focal T2 hypointense basal ganglia lesion / 基底节局灶性T2低信号病变
HP:0012753: T2 hypointense basal ganglia / 基底节T2序列低信号
HP:0012754: CNS hypermyelination / 中枢神经系统髓鞘形成增多
HP:0012755: Enlarged brainstem / 脑干扩大
HP:0012756: CSF polymorphonuclear pleocytosis / 脑脊液多形核细胞增多
HP:0012757: Abnormal neuron morphology / 神经元形态异常
HP:0012758: Neurodevelopmental delay / 神经发育延迟
HP:0012759: Neurodevelopmental abnormality / 神经发育异常
HP:0012760: Impaired social reciprocity / 社会交互作用障碍
HP:0012761: Absent mastoid / 乳突缺如
HP:0012762: Cerebral white matter atrophy / 脑白质萎缩
HP:0012763: Paroxysmal dyspnea / 突发性呼吸困难
HP:0012764: Orthopnea / 端坐式呼吸
HP:0012765: Widened cerebellar subarachnoid space / 增宽的小脑蛛网膜下腔
HP:0012766: Widened cerebral subarachnoid space / 脑蛛网膜下腔扩大
HP:0012767: Abnormal placental size / 胎盘大小异常
HP:0012768: Neonatal asphyxia / 新生儿窒息
HP:0012769: Abnormal arm span / 臂展异常
HP:0012770: Reduced arm span / 臂展降低
HP:0012771: Increased arm span / 臂展增加
HP:0012772: Abnormal upper to lower segment ratio / 上下身比例异常
HP:0012773: Reduced upper to lower segment ratio / 上下身比例减小
HP:0012774: Increased upper to lower segment ratio / 上下身比例增大
HP:0012775: Stellate iris / 星状虹膜
HP:0012776: Abnormal ciliary body morphology / 睫状体形态异常
HP:0012777: Retinal neoplasm / 视网膜肿瘤
HP:0012778: Retinal astrocytic hamartoma / 视网膜星形细胞错构瘤
HP:0012779: Transient hearing impairment / 一过性听力障碍
HP:0012780: Neoplasm of the ear / 耳部肿瘤
HP:0012781: Mid-frequency hearing loss / 中频听力损失
HP:0012782: Perilobar nephrogenic rest / 肾小叶周围性肾源残余
HP:0012783: Intralobar nephrogenic rest / 肾小叶内型肾残余
HP:0012784: Perinephritis / 肾周围炎
HP:0012785: Flexion contracture of finger / 手指屈曲挛缩
HP:0012786: Recurrent cystitis / 复发性膀胱炎
HP:0012787: Recurrent pyelonephritis / 复发性肾盂肾炎
HP:0012788: Reticulate pigmentation of oral mucosa / 口腔黏膜网状色素沉着
HP:0012789: Hypoplasia of the calcaneus / 跟骨发育低下
HP:0012790: Abnormal intramembranous ossification / 膜内骨化异常
HP:0012791: Abnormal humeral ossification / 肱骨骨化异常
HP:0012792: Absent ossification of thoracic vertebral bodies / 胸椎椎体未骨化
HP:0012793: Kinked brainstem / 脑干扭结
HP:0012794: Periventricular white matter hypodensities / 脑室周围白质低密度
HP:0012795: Abnormal optic disc morphology / 视盘形态异常
HP:0012796: Increased cup-to-disc ratio / 杯盘比增大
HP:0012797: Lymphatic vessel neoplasm / 淋巴管瘤
HP:0012798: Pulmonary lymphangiomyomatosis / 肺淋巴管肌瘤病
HP:0012799: Unilateral facial palsy / 单侧面神经麻痹
HP:0012800: Accessory cranial suture / 额外颅缝
HP:0012801: Narrow jaw / 窄下颌
HP:0012802: Broad jaw / 宽下颌
HP:0012803: Anisometropia / 屈光参差
HP:0012804: Corneal ulceration / 角膜溃疡
HP:0012805: Iris transillumination defect / 虹膜透光缺陷
HP:0012806: Proboscis / 管状鼻
HP:0012807: High insertion of columella / 鼻小柱高插入
HP:0012808: Abnormal nasal base / 鼻基异常
HP:0012809: Narrow nasal base / 鼻基狭窄
HP:0012810: Wide nasal base / 宽鼻底
HP:0012811: Wide nasal ridge / 宽鼻嵴
HP:0012812: Fullness of paranasal tissue / 鼻旁组织丰满
HP:0012813: Unilateral breast hypoplasia / 单侧乳房发育不良
HP:0012814: Bilateral breast hypoplasia / 双侧乳房发育不良
HP:0012815: Hypoplastic female external genitalia / 女性外生殖器发育不良
HP:0012816: Right ventricular noncompaction cardiomyopathy / 右室心肌致密化不全
HP:0012817: Noncompaction cardiomyopathy / 心肌致密化不全
HP:0012818: Biventricular noncompaction cardiomyopathy / 双心室心肌致密化不全
HP:0012819: Myocarditis / 心肌炎
HP:0012820: Bilateral vocal cord paralysis / 双侧声带麻痹
HP:0012821: Unilateral vocal cord paresis / 单侧声带麻痹
HP:0012822: Bilateral vocal cord paresis / 双侧声带麻痹
HP:0012823: Clinical modifier / 临床调节因素
HP:0012824: Severity / 严重程度
HP:0012825: Mild / 轻度
HP:0012826: Moderate / 中度
HP:0012827: Borderline / 正常范围界限
HP:0012828: Severe / 重度
HP:0012829: Profound / 非常严重
HP:0012830: Position / 位置
HP:0012831: Laterality / 偏侧性
HP:0012832: Bilateral / 双侧
HP:0012833: Unilateral / 单侧
HP:0012834: Right / 右侧
HP:0012835: Left / 左侧
HP:0012836: Spatial pattern / 病变分布
HP:0012837: Generalized / 全身性
HP:0012838: Localized / 局部性
HP:0012839: Distal / 远端
HP:0012840: Proximal / 近端
HP:0012841: Retinal vascular tortuosity / 视网膜血管迂曲
HP:0012842: Skin appendage neoplasm / 皮肤附属器肿瘤
HP:0012843: Hair follicle neoplasm / 毛囊瘤
HP:0012844: Trichilemmoma / 毛根鞘瘤
HP:0012845: Single trichilemmoma / 单发性毛根鞘瘤
HP:0012846: Multiple trichilemmomata / 多发性毛根鞘瘤
HP:0012847: Epilepsia partialis continua / 部分性癫痫发作持续状态
HP:0012848: Small intestinal stenosis / 小肠狭窄
HP:0012849: Small intestinal bleeding / 小肠出血
HP:0012850: Small intestinal dysmotility / 小肠动力障碍
HP:0012851: Colonic stenosis / 结肠狭窄
HP:0012852: Hepatic bridging fibrosis / 肝桥接性纤维化
HP:0012853: Scrotal hypospadias / 阴囊型尿道下裂
HP:0012854: Midshaft hypospadias / 中段尿道下裂
HP:0012855: Scrotal hyperpigmentation / 阴囊色素沉着
HP:0012856: Abnormal scrotal rugation / 阴囊褶皱异常
HP:0012857: Increased scrotal rugation / 阴囊褶皱增加
HP:0012858: Decreased scrotal rugation / 阴囊褶皱减少
HP:0012859: Esophageal leukoplakia / 食管白斑
HP:0012860: Testicular fibrosis / 睾丸纤维化
HP:0012861: Ovotestis / 卵睾（两性生殖腺）
HP:0012862: Abnormal germ cell morphology / 生殖细胞形态异常
HP:0012863: Abnormal male germ cell morphology / 男性生殖细胞形态异常
HP:0012864: Abnormal sperm morphology / 精子形态异常
HP:0012865: Abnormal sperm head morphology / 精子头部形态异常
HP:0012866: Abnormal sperm neck morphology / 精子颈部形态异常
HP:0012867: Abnormal sperm mid-piece morphology / 精子中段形态异常
HP:0012868: Abnormal sperm tail morphology / 精子尾部形态异常
HP:0012869: Acephalic spermatozoa / 无头精子
HP:0012870: Vanishing testis / 睾丸消失
HP:0012871: Varicocele / 精索静脉曲张
HP:0012872: Abnormal vas deferens morphology / 输精管形态异常
HP:0012873: Absent vas deferens / 输精管缺如
HP:0012874: Abnormal male reproductive system physiology / 男性生殖系统生理机能异常
HP:0012875: Abnormal ejaculation / 射精异常
HP:0012876: Premature ejaculation / 早泄
HP:0012877: Retrograde ejaculation / 逆行射精
HP:0012878: Retarded ejaculation / 射精延迟
HP:0012879: Anejaculation / 不射精症
HP:0012880: Abnormal labia minora morphology / 小阴唇形态异常
HP:0012881: Abnormal labia majora morphology / 大阴唇形态异常
HP:0012882: Hyperplastic labia majora / 大阴唇增生
HP:0012883: Fallopian tube cyst / 输卵管囊肿
HP:0012884: Fallopian tube torsion / 输卵管扭转
HP:0012885: Fallopian tube duplication / 输卵管重复
HP:0012886: Hemorrhagic ovarian cyst / 出血性卵巢囊肿
HP:0012887: Ovarian serous cystadenoma / 卵巢浆液性囊腺瘤
HP:0012888: Abnormal uterine cervix morphology / 宫颈形态异常
HP:0012889: Cervical endometriosis / 宫颈子宫内膜异位症
HP:0012890: Posteriorly placed anus / 肛门后置
HP:0012891: High posterior hairline / 后发际线高
HP:0012892: Facial muscle hypertrophy / 面部肌肉肥大
HP:0012893: Neck muscle hypertrophy / 颈部肌肉肥大
HP:0012894: Paraspinal muscle hypertrophy / 椎旁肌肥大
HP:0012895: Scapular muscle hypertrophy / 肩胛肌肥大
HP:0012896: Abnormal motor evoked potentials / 运动诱发电位异常
HP:0012897: Abnormal upper-limb motor evoked potentials / 上肢运动诱发电位异常
HP:0012898: Abnormal lower-limb motor evoked potentials / 下肢运动诱发电位异常
HP:0012899: Handgrip myotonia / 抓握性肌强直
HP:0012900: Myotonia of the face / 面部肌强直
HP:0012901: Myotonia of the jaw / 下颌肌强直
HP:0012902: Myotonia of the lower limb / 下肢肌强直
HP:0012903: Myotonia of the upper limb / 上肢肌强直
HP:0012904: Cold-sensitive myotonia / 冷敏性肌强直
HP:0012905: Euryblepharon / 睑外翻
HP:0020006: Ciliary body coloboma / 睫状体缺损
HP:0020034: Diffuse / 弥漫性
HP:0020035: Lower limb dysmetria / 下肢距辨不良症
HP:0020036: Upper limb dysmetria / 上肢距辨不良
HP:0020037: Astasia / 站立不能
HP:0020038: Vertebrobasilar dolichoectasia / 椎基底动脉扩张延长症
HP:0020041: Double elevator palsy / 双下转肌麻痹
HP:0020042: Double depressor palsy / 双上转肌麻痹
HP:0020043: Vertical incomitant strabismus / 垂直性斜视
HP:0020044: Horizontal incomitant strabismus / 水平非同步斜视
HP:0020045: Esodeviation / 内斜视
HP:0020046: Accommodative esotropia / 调节性内斜视
HP:0020047: Abnormal myeloid cell morphology / 骨髓细胞形态学异常
HP:0020048: Reduced bone-marrow pro-B cell count / 骨髓祖B细胞计数减少
HP:0020049: Exodeviation / 外斜视
HP:0020050: Anti-granulocyte-macrophage colony stimulating factor antibody positivity / 抗粒细胞-巨噬细胞集落刺激因子抗体阳性
HP:0020054: Abnormal erythrocyte physiology / 红细胞生理异常
HP:0020058: Abnormal red blood cell count / 红细胞计数异常
HP:0020059: Increased red blood cell count / 红细胞计数增高
HP:0020060: Decreased red blood cell count / 红细胞计数减低
HP:0020061: Abnormal hemoglobin concentration / 血红蛋白浓度异常
HP:0020062: Decreased hemoglobin concentration / 血红蛋白浓度减低
HP:0020063: Increased hemoglobin concentration / 血红蛋白浓度增高
HP:0020064: Abnormal eosinophil count / 嗜酸性粒细胞计数异常
HP:0020071: Viremia / 病毒血症
HP:0020072: Persistent EBV viremia / 持续性EBV病毒血症
HP:0020073: Hypopigmented macule / 低色素斑点
HP:0020074: Crystalluria / 结晶尿
HP:0020075: Leucine crystalluria / 亮氨酸结晶尿
HP:0020076: Wrist ganglion / 腕关节腱鞘囊肿
HP:0020077: Carnitinuria / 肉碱尿
HP:0020078: Alaninuria / 丙氨酸尿
HP:0020079: Beta-alaninuria / β-丙氨酸尿
HP:0020080: Erythrocyte inclusion bodies / 红细胞包涵体
HP:0020081: Pappenheimer bodies / 帕彭海默小体
HP:0020082: Heinz bodies / 海因小体
HP:0020083: Furuncle / 疖
HP:0020084: Carbuncle / 痈
HP:0020085: Infection following live vaccination / 活疫苗接种后感染
HP:0020086: BCGitis / 接种卡介苗后局部或周边感染
HP:0020087: BCGosis / 接种卡介苗后远处或播散性感染
HP:0020088: Post-vaccination measles / 接种麻疹减毒活疫苗后感染
HP:0020089: Post-vaccination rubella / 接种风疹减毒活疫苗后感染
HP:0020090: Post-vaccination polio / 接种脊髓灰质炎减毒活疫苗后感染
HP:0020091: Post-vaccination rotavirus infection / 接种轮状病毒减毒活疫苗后感染
HP:0020093: Recurrent deep organ abscess formation / 复发性深部器官脓肿形成
HP:0020095: Prolonged need of intravenous antibiotic therapy / 超期静脉注射抗生素治疗
HP:0020096: Recurrent streptococcal infections / 复发性链球菌感染
HP:0020097: Infection due to encapsulated bacteria / 包埋性细菌感染
HP:0020099: Severe norovirus infection / 重度诺如病毒感染
HP:0020100: Unusual fungal infection / 异常真菌感染
HP:0020101: Invasive fungal infection / 侵袭性真菌感染
HP:0020102: Pneumocystis jirovecii pneumonia / 肺孢子菌肺炎
HP:0020103: Invasive pulmonary aspergillosis / 侵袭性肺曲霉菌病
HP:0020104: Unusual protozoan infection / 非寻常原生动物感染
HP:0020105: Severe toxoplasmosis / 重度弓形虫感染
HP:0020106: Severe giardiasis / 重度贾第虫感染
HP:0020107: Unusual helminthic infection / 非寻常蠕虫感染
HP:0020108: Unusual parasitic infection / 非寻常寄生虫感染
HP:0020110: Bone fracture / 骨折
HP:0020111: Abnormal CD4+CD25+ regulatory T cell proportion / CD4+CD25+调节性T细胞比例异常
HP:0020112: Increased proportion of CD4+CD25+ regulatory T cells / CD4+CD25+调节性T细胞比例增高
HP:0020113: Decreased proportion of CD4+CD25+ regulatory T cells / CD4+CD25+调节性T细胞比例降低
HP:0020114: Persistent human papillomavirus infection / 持续性人乳头瘤病毒感染
HP:0020117: Hypoplastic dermoepidermal hemidesmosomes / 真皮表皮交界处半小体发育不良
HP:0020118: Radial artery aplasia / 桡动脉未发育
HP:0020119: Abnormal retinal nerve fiber layer morphology / 视网膜神经纤维层形态异常
HP:0020120: Retinal nerve fiber edema / 视网膜神经纤维水肿
HP:0020121: Conception by assisted reproductive technology / 通过辅助生殖技术受孕
HP:0020122: Bite cells / 咬痕细胞
HP:0020123: Tympanosclerosis / 鼓膜硬化症
HP:0020125: Spontaneous conjunctival filtering bleb / 自发性结膜滤过泡
HP:0020126: Prostate mass / 前列腺肿块
HP:0020127: Periarticular soft-tissue mass / 关节周围软组织肿块
HP:0020128: Aplasia of the olfactory tract / 嗅束不发育
HP:0020129: Abnormal urine protein level / 尿蛋白水平异常
HP:0020130: Increased urinary neutrophil gelatinase-associated lipocalin / 尿中性粒细胞明胶酶相关脂质运载蛋白升高
HP:0020131: Abnormal tubular basement membrane morphology / 肾小管基底膜形态异常
HP:0020132: Thickening of the tubular basement membrane / 肾小管基底膜增厚
HP:0020133: Podocyte hypertrophy / 足突细胞肥大
HP:0020134: Increased urine neutrophil count / 尿中性粒细胞计数升高
HP:0020135: Myofibromatosis / 肌纤维瘤病
HP:0020136: Anticardiolipin IgG antibody positivity / 抗心磷脂IgG抗体阳性
HP:0020137: Anticardiolipin IgM antibody positivity / 抗心磷脂IgM抗体阳性
HP:0020138: History of recent animal bite / 近期动物咬伤史
HP:0020139: History of recent insect bite / 近期昆虫叮咬史
HP:0020140: History of recent tick bite / 近期蜱虫叮咬史
HP:0020141: Blood pressure substantially higher in legs than arms / 腿部血压明显高于手臂
HP:0020142: Blood pressure substantially higher in arms than legs / 手臂血压明显高于腿部
HP:0020143: Tracheal duplication cyst / 气管组织样囊肿
HP:0020144: Calcium phosphate crystalluria / 磷酸钙结晶尿
HP:0020145: Calcium oxalate crystalluria / 草酸钙结晶尿
HP:0020146: Calcium carbonate crystalluria / 碳酸钙结晶尿
HP:0020147: 2-Methylbutyryl glycinuria / 2-甲基丁酰甘氨酸尿症
HP:0020148: Increased circulating mead acid level / 血液二十碳三烯酸水平升高
HP:0020149: Elevated circulating succinate / 血液琥珀酸盐升高
HP:0020150: Elevated urinary uromodulin / 尿调节蛋白升高
HP:0020151: Anti-dsDNA antibody positivity / 抗双链DNA 抗体阳性
HP:0020152: Distal joint laxity / 远端关节松弛
HP:0020153: Positive blood 1,3 beta glucan test / 血液(1-3)-β-葡聚糖检测阳性
HP:0020154: Nevus comedonicus / 黑头粉刺样痣
HP:0020155: Abnormal oocyte morphology / 卵细胞形态异常
HP:0020156: Abnormal zona pellucida morphology / 透明带形态异常
HP:0020157: Thin zona pellucida / 透明带变薄
HP:0020158: Increased circulating adrenic acid concentration / 血液肾上腺酸浓度升高
HP:0020159: Reduced response to gonadotropin-releasing hormone stimulation test / 促性腺激素释放激素刺激应答减弱
HP:0020160: GM1-ganglioside accumulation / GM1-神经节苷脂累积
HP:0020161: Branch retinal artery occlusion / 视网膜动脉分支闭塞
HP:0020163: Cilioretinal artery occlusion / 睫状体视网膜动脉阻塞
HP:0020164: Ophthalmic artery occlusion / 眼动脉阻塞
HP:0020165: Branch retinal vein occlusion / 视网膜分支静脉阻塞
HP:0020166: Central retinal vein occlusion / 视网膜中央静脉阻塞
HP:0020167: Hemiretinal vein occlusion / 视网膜分支静脉阻塞（半视网膜）
HP:0020169: Abnormal drug response / 药物反应异常
HP:0020170: Increased blood drug concentration / 血药浓度升高
HP:0020171: Decreased blood drug concentration / 血药浓度降低
HP:0020172: Adverse drug response / 药物不良反应
HP:0020173: Reduced drug efficacy / 药物疗效降低
HP:0020174: Refractory drug response / 药物治疗应答无能
HP:0020175: Reduced cholinesterase level / 胆碱酯酶水平降低
HP:0020176: Cholesterol crystalluria / 胆固醇结晶尿
HP:0020177: Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells / CD8阳性的终末效应性α-β T细胞比例异常
HP:0020178: Abnormal dendritic cell count / 树突状细胞计数异常
HP:0020179: Abnormal haptoglobin level / 结合珠蛋白水平异常
HP:0020180: Elevated haptoglobin level / 结合珠蛋白水平升高
HP:0020181: Reduced haptoglobin level / 结合珠蛋白水平降低
HP:0020182: Abnormal A-type atrial natriuretic peptide level / A型心钠素水平异常
HP:0020183: Increased circulating A-type natriuretic peptide level / 血液A型尿利钠肽水平升高
HP:0020184: Decreased circulating A-type natriuretic peptide level / 血液A型尿利钠肽水平降低
HP:0020185: Superior cerebellar dysplasia / 小脑上部发育不良
HP:0020186: Multilobulated spleen / 多叶脾
HP:0020187: Thick pachygyria / 巨脑回
HP:0020188: Anterior predominant pachygyria with 5-10 mm cortical thickness / 主要累及前脑的皮层厚度5-10 mm的巨脑回
HP:0020189: Posterior predominant thick cortex pachygyria / 主要累及后脑皮质增厚的巨脑回