TaoMedAI/RareMedData huggingface dataset:
HP:0030718: Right atrial enlargement / 右心房扩大
HP:0030719: Unguarded tricuspid valve / 三尖瓣无挡畸形
HP:0030720: Subchorionic septal cyst / 绒毛膜下间隔囊肿
HP:0030721: Tetraphocomelia / 四肢短肢畸形
HP:0030722: Ectopic liver / 异位肝
HP:0030723: Congenital megalourethra / 先天性巨尿道
HP:0030724: Central nervous system cyst / 中枢神经系统囊肿
HP:0030725: Neurenteric cyst / 神经管原肠囊肿
HP:0030726: Spinal neurenteric cyst / 脊柱神经管原肠囊肿
HP:0030727: Intracranial neurenteric cyst / 颅内神经管原肠囊肿
HP:0030728: Meromelia / 残肢畸形
HP:0030729: Frontoethmoidal meningocele / 额筛脑膜膨出
HP:0030730: Parietal meningocele / 顶脑膜膨出
HP:0030731: Carcinoma / 癌
HP:0030732: Dysplastic tricuspid valve / 三尖瓣发育不良
HP:0030733: Vesicoallantoic abdominal wall defect / 膀胱尿囊腹壁缺损
HP:0030735: Ureterovesical junction obstruction / 膀胱输尿管交界处梗阻
HP:0030736: Sacrococcygeal teratoma / 骶尾部畸胎瘤
HP:0030737: Altman type I sacrococcygeal teratoma / Altman I 型骶尾部畸胎瘤
HP:0030738: Altman type II sacrococcygeal teratoma / Altman II 型骶尾部畸胎瘤
HP:0030739: Altman type III sacrococcygeal teratoma / 奥特曼 III 型骶尾部畸胎瘤
HP:0030740: Anomalous muscle bundle of the right ventricle / 右心室肌束异常
HP:0030741: Mediastinal teratoma / 纵隔畸胎瘤
HP:0030742: Glial remnants posterior to lens / 晶状体后方胶质残余
HP:0030743: Glial remnants anterior to the optic disc / 视盘前的胶质残留
HP:0030744: Hyaloid vascular remnant and retrolental mass / 玻璃体血管残余和晶体后团块
HP:0030745: Dilatation of the ductus arteriosus / 动脉导管扩张
HP:0030746: Intraventricular hemorrhage / 脑室内出血
HP:0030747: Preterm intraventricular hemorrhage / 早产儿脑室内出血
HP:0030748: Grade I preterm intraventricular hemorrhage / 早产儿脑室内出血 I 级
HP:0030749: Grade II preterm intraventricular hemorrhage / 早产儿脑室内出血 II 级
HP:0030750: Grade III preterm intraventricular hemorrhage / 早产儿脑室内出血 III 级
HP:0030751: Grade IV preterm intraventricular hemorrhage / 早产儿脑室内出血 IV 级
HP:0030752: Dacryocystocele / 泪囊突出
HP:0030753: Intrauterine fetal demise of one twin after midgestation / 妊娠中期之后双胞胎之一宫内胎儿死亡
HP:0030754: Allantoic cyst / 尿囊囊肿
HP:0030755: Craniofacial teratoma / 颅面畸胎瘤
HP:0030756: Erythrodontia / 红牙病
HP:0030757: Tooth abscess / 牙脓肿
HP:0030758: Periapical tooth abscess / 根尖周脓肿
HP:0030759: Adipocyte hypertrophy / 脂肪细胞肥大
HP:0030760: Renal fibrosis / 肾纤维化
HP:0030762: Mesangiolysis / 系膜溶解
HP:0030763: Amniotic Sheet / 羊膜片
HP:0030764: Ochronosis / 褐黄病
HP:0030765: Sleep terror / 睡惊症
HP:0030766: Ear pain / 耳痛
HP:0030767: Epignathus / 上颌寄生胎畸胎
HP:0030769: Exencephaly / 露脑畸形
HP:0030770: Craniorachischisis / 颅脊柱裂畸形
HP:0030771: Mallet finger / 槌状指
HP:0030772: Proximal femoral focal deficiency / 股骨近端局灶性缺损
HP:0030773: Internuclear ophthalmoplegia / 核间性眼肌瘫痪
HP:0030774: Mitochondrial swelling / 线粒体肿胀
HP:0030775: Modic type vertebral endplate changes / Modic 类型椎体终板改变
HP:0030776: Modic type I vertebral endplate changes / Modic I 型椎体终板改变
HP:0030777: Modic type II vertebral endplate changes / Modic II 型椎体终板改变
HP:0030778: Modic type III vertebral endplate changes / Modic III 型椎体终板改变
HP:0030779: Ethmocephaly / 猿头畸形
HP:0030780: Abnormality of the protein C anticoagulant pathway / 蛋白 C 抗凝途径异常
HP:0030781: Increased circulating free fatty acid level / 循环系统内游离脂肪酸水平增高
HP:0030782: Abnormal circulating interleukin concentration / 循环白介素水平异常
HP:0030783: Increased circulating interleukin 6 concentration / 循环白细胞介素6水平升高
HP:0030784: Anomic aphasia / 命名性失语症
HP:0030785: Mediastinal cystic lymphangioma / 纵隔囊性淋巴管瘤
HP:0030786: Photopsia / 闪光感
HP:0030787: Cerumen abnormality / 耵聍异常
HP:0030788: Impacted cerumen / 耵聍栓塞
HP:0030789: Excessive cerumen / 耵聍过多
HP:0030790: Abnormal cerumen color / 耵聍颜色异常
HP:0030791: Abnormal jaw morphology / 颌部形态异常
HP:0030792: Jaw neoplasm / 颌部肿瘤
HP:0030793: Jaw swelling / 颌部肿胀
HP:0030794: Abnormal C-peptide level / C-肽水平异常
HP:0030795: Reduced C-peptide level / C-肽水平降低
HP:0030796: Increased C-peptide level / C-肽水平增高
HP:0030797: Reduced volume of central subdivision of bed nucleus of stria terminalis / 终纹床核中央区体积减少
HP:0030798: Abnormality of the bed nucleus of stria terminalis / 终纹床核异常
HP:0030799: Scaphocephaly / 舟状头
HP:0030800: Abnormal visual accommodation / 视觉调节异常
HP:0030801: Reduced visual accommodation / 视觉调节能力下降
HP:0030802: Lower eyelid retraction / 下眼睑退缩
HP:0030803: Platonychia / 扁平甲
HP:0030804: Trachyonychia / 指甲粗糙脆裂
HP:0030805: Absent lunula / 甲半月缺失
HP:0030806: Fast-growing nails / 甲生长过速
HP:0030807: Abnormal nail growth / 甲生长异常
HP:0030808: Ragged cuticle / 粗糙的甲上皮
HP:0030809: Abnormal tongue morphology / 舌头形态异常
HP:0030810: Abnormal tongue physiology / 舌头生理异常
HP:0030811: Tongue pain / 舌痛
HP:0030812: Enlarged tonsils / 扁桃体肿大
HP:0030813: Absent tonsils / 扁桃体缺如
HP:0030814: Orange discolored tonsils / 扁桃体橘色变色
HP:0030815: Lipoma of the tongue / 舌部脂肪瘤
HP:0030816: Gingival recession / 牙龈退缩
HP:0030817: Beaked nails / 喙状甲/鸟嘴样指甲
HP:0030818: Central nail canal / 甲纵沟
HP:0030819: Ski jump nail / 滑雪跳台形状的甲
HP:0030820: Hooded eyelid / 眼睑悬垂
HP:0030821: Hooded lower eyelid / 下眼睑悬垂
HP:0030822: Hooded upper eyelid / 上眼睑悬垂
HP:0030823: Scleral thickening / 巩膜增厚
HP:0030824: Mizuo phenomenon / 水尾现象
HP:0030825: Absent foveal reflex / 黄斑中心凹反射缺失
HP:0030826: Eyelid fasciculation / 眼睑痉挛
HP:0030828: Wheezing / 哮鸣音
HP:0030829: Abnormal breath sound / 异常呼吸音
HP:0030830: Crackles / 肺啰音
HP:0030831: Rhonchi / 干啰音
HP:0030832: Vitreous strands / 玻璃体条索
HP:0030833: Neck pain / 颈痛
HP:0030834: Shoulder pain / 肩痛
HP:0030835: Elbow pain / 手肘痛
HP:0030836: Wrist pain / 手腕关节痛
HP:0030837: Finger pain / 手指疼痛
HP:0030838: Hip pain / 髋痛
HP:0030839: Knee pain / 膝痛
HP:0030840: Ankle pain / 脚踝痛
HP:0030841: Toe pain / 脚趾痛
HP:0030842: Choking episodes / 窒息发作
HP:0030843: Cardiac amyloidosis / 心脏淀粉样变性
HP:0030844: Undetectable pattern electroretinogram / 图形视网膜电图检测不到波形
HP:0030845: Heliotrope rash of eyelid / 眼睑向阳性皮疹
HP:0030846: Abnormality of venous physiology / 静脉生理异常
HP:0030847: Abnormal jugular venous pressure / 颈静脉压异常
HP:0030848: Elevated jugular venous pressure / 颈静脉压升高
HP:0030849: Hepatojugular reflux / 肝颈静脉反流
HP:0030850: Abnormal pulse pressure / 脉压异常
HP:0030851: Low pulse pressure / 脉压低
HP:0030852: High pulse pressure / 脉压高
HP:0030853: Heterotaxy / 内脏异位
HP:0030854: Scleral staphyloma / 巩膜葡萄肿
HP:0030855: Anterior staphyloma / 前巩膜葡萄肿
HP:0030856: Posterior staphyloma / 后巩膜葡萄肿
HP:0030857: Eye movement-induced pain / 眼动诱发疼痛
HP:0030858: Addictive behavior / 成瘾行为
HP:0030859: Anti-topoisomerase I antibody positivity / 抗拓扑异构酶 I 抗体阳性
HP:0030860: Abnormal CSF amyloid level / 脑脊液淀粉样蛋白水平异常
HP:0030861: Decreased CSF amyloid level / 脑脊液淀粉样蛋白水平降低
HP:0030862: Elevated CSF amyloid level / 脑脊液淀粉样蛋白水平升高
HP:0030863: Nasal flaring / 鼻翼煽动
HP:0030864: Intercostal retractions / 肋间隙回缩
HP:0030865: Large elbow / 肘关节偏大
HP:0030866: Large knee / 膝关节偏大
HP:0030867: Vertical orbital dystopia / 垂直眼窝易位
HP:0030868: Monorchism / 单睾丸
HP:0030869: Anorchism / 无睾症
HP:0030870: Abnormality of spinal facet joint / 脊柱小关节异常
HP:0030871: Facet joint arthrosis / 小关节炎
HP:0030872: Abnormal cardiac ventricular function / 心室功能异常
HP:0030873: Anti-centromere antibody positivity / 抗着丝粒抗体阳性
HP:0030874: Oxygen desaturation on exertion / 用力时血氧饱和度下降
HP:0030875: Abnormality of pulmonary circulation / 肺循环异常
HP:0030876: Increased pulmonary capillary wedge pressure / 肺毛细血管楔压升高
HP:0030877: Reduced FEV1/FVC ratio / 1秒率下降
HP:0030878: Abnormality on pulmonary function testing / 肺功能检测结果异常
HP:0030879: Interlobular septal thickening / 小叶间隔增厚
HP:0030880: Raynaud phenomenon / 雷诺现象
HP:0030881: Shoulder impingement / 肩袖综合征
HP:0030882: Coronary artery aneurysm / 冠状动脉瘤
HP:0030883: Femoroacetabular impingement / 股骨髋臼撞击症
HP:0030884: Gastrojejunal tube feeding in infancy / 婴儿胃空肠管饲
HP:0030885: Recurrent parasitic infections / 反复性寄生虫感染
HP:0030886: Abnormal lymphocyte apoptosis / 淋巴细胞凋亡异常
HP:0030887: Increased lymphocyte apoptosis / 淋巴细胞凋亡增加
HP:0030888: C3 nephritic factor positivity / C3肾炎因子阳性
HP:0030889: Congenital shortened small intestine / 先天性小肠短缩
HP:0030890: Hyperintensity of cerebral white matter on MRI / MRI脑白质高信号
HP:0030891: Periventricular white matter hyperintensities / 脑室旁白质高信号
HP:0030892: Deep cerebral white matter hyperintensities / 深部脑白质高信号
HP:0030893: Abnormal response to short acting pulmonary vasodilator / 对短效支气管扩张剂反应异常
HP:0030894: Insufficient response to short acting pulmonary vasodilator / 对短效支气管扩张剂反应不足
HP:0030895: Abnormal gastrointestinal motility / 胃肠蠕动异常
HP:0030896: Abnormal gastrointestinal transit time / 胃肠通过时间异常
HP:0030897: Decreased intestinal transit time / 肠道通过时间缩短
HP:0030898: Pruritis on abdomen / 腹部瘙痒
HP:0030899: Pruritis on hand / 手部瘙痒
HP:0030900: Pruritus on foot / 足部瘙痒
HP:0030901: Pruritis on breast / 乳房瘙痒
HP:0030902: Palmomental reflex / 掌颌反射
HP:0030903: Grasp reflex / 抓握反射/握持反射
HP:0030904: Glabellar reflex / 眉心反射
HP:0030905: Snout reflex / 撅嘴反射
HP:0030906: Suck reflex / 吸吮反射
HP:0030907: Thunderclap headache / 霹雳性头痛
HP:0030908: Liver kidney microsome type 1 antibody positivity / 肝肾微粒体1型抗体阳性
HP:0030909: Anti-liver cytosolic antigen type 1 antibody positivity / 抗肝细胞胞浆抗原1型抗体阳性
HP:0030911: Bifid clitoris / 阴蒂分叉
HP:0030912: Duplicated clitoris / 重复阴蒂
HP:0030913: Exaggerated rugosity of the labia majora / 大阴唇褶皱增多
HP:0030914: Abnormal peristalsis / （消化道）蠕动异常
HP:0030915: Cerebellar edema / 小脑水肿
HP:0030917: Low APGAR score / 低APGAR评分
HP:0030918: Low 1-minute APGAR score / 1分钟APGAR评分低
HP:0030919: Low 5-minute APGAR score / 5分钟APGAR评分低
HP:0030920: 5-minute APGAR score of 0 / 5分钟APGAR评分0分
HP:0030921: 5-minute APGAR score of 1 / 5分钟APGAR评分1分
HP:0030922: 5-minute APGAR score of 2 / 5分钟APGAR评分2分
HP:0030923: 5-minute APGAR score of 3 / 5分钟APGAR评分3分
HP:0030924: 5-minute APGAR score of 4 / 5分钟APGAR评分4分
HP:0030925: 5-minute APGAR score of 5 / 5分钟APGAR评分5分
HP:0030926: 5-minute APGAR score of 6 / 5分钟APGAR评分6分
HP:0030927: 1-minute APGAR score of 0 / 1分钟APGAR评分0分
HP:0030928: 1-minute APGAR score of 1 / 1分钟APGAR评分1分
HP:0030929: 1-minute APGAR score of 2 / 1分钟APGAR评分2分
HP:0030930: 1-minute APGAR score of 3 / 1分钟APGAR评分3分
HP:0030931: 1-minute APGAR score of 4 / 1分钟APGAR评分4分
HP:0030932: 1-minute APGAR score of 5 / 1分钟APGAR评分5分
HP:0030933: 1-minute APGAR score of 6 / 1分钟APGAR评分6分
HP:0030934: Oral erythroplakia / 口腔红斑
HP:0030935: Abnormality of intestinal smooth muscle morphology / 肠平滑肌形态异常
HP:0030936: Abnormal layering of muscularis propria / 固有肌层异常分层
HP:0030937: Fibrotic muscularis propria / 固有层肌纤维变性
HP:0030938: Enteric intraneuronal nuclear inclusion bodies / 肠神经元核内包涵体病
HP:0030939: Palpebral thickening / 眼睑增厚
HP:0030943: Vulvodynia / 外阴痛
HP:0030946: Conjunctival papillae / 结膜乳头
HP:0030947: Conjunctival follicles / 结膜滤泡
HP:0030948: Elevated gamma-glutamyltransferase level / γ-谷氨酰转移酶活性增高
HP:0030949: Glomerular deposits / 肾小球沉积
HP:0030950: Pulmonary venous hypertension / 肺静脉高压
HP:0030951: Skeletal muscle fibrosis / 骨骼肌纤维化
HP:0030952: Birdshot retinochoroidopathy / 鸟枪弹样视网膜脉络膜病变
HP:0030953: Conjunctival hyperemia / 结膜充血
HP:0030955: Alcoholism / 酗酒
HP:0030956: Abnormality of cardiovascular system electrophysiology / 心血管系统电生理异常
HP:0030957: Ventricular septal aneurysm / 室间隔动脉瘤
HP:0030958: Membranous ventricular septal aneurysm / 膜性室间隔动脉瘤
HP:0030959: Muscular ventricular septal aneurysm / 肌室间隔动脉瘤
HP:0030961: Microspherophakia / 小球形晶状体
HP:0030962: Abnormal morphology of the great vessels / 大血管形态异常
HP:0030964: Abnormal aortic physiology / 主动脉生理异常
HP:0030965: Aortic stiffness / 主动脉僵硬
HP:0030966: Abnormal pulmonary artery morphology / 肺动脉形态异常
HP:0030967: Abnormal pulmonary artery physiology / 肺动脉生理异常
HP:0030968: Abnormal pulmonary vein morphology / 肺静脉畸形
HP:0030969: Abnormal pulmonary vein physiology / 肺静脉生理异常
HP:0030970: Abnormal vena cava physiology / 异常腔静脉生理学
HP:0030972: Abnormal systemic blood pressure / 全身血压异常
HP:0030973: Postexertional symptom exacerbation / 活动后症状加重
HP:0030974: Cryptozoospermia / 隐匿精子症
HP:0030975: Pontine tegmental cap / 脑桥被盖帽
HP:0030976: Abnormal factor VIII activity / 因子VIII活性异常
HP:0030977: Increased factor VIII activity / 因子VIII活性增高
HP:0030978: Decreased CSF/serum albumin ratio / 脑脊液白蛋白与血清白蛋白的比值下降
HP:0030979: Dilatation of large choroidal vessels / 脉络膜大血管扩张
HP:0030980: Reduced brain glutamine level by MRS / MRS分析大脑谷氨酰胺水平偏低
HP:0030981: Abnormal CSF/serum albumin ratio / 异常脑脊液/血清白蛋白比率
HP:0030983: Ovarian thecoma / 卵泡膜细胞瘤
HP:0030984: Abnormal serum bile acid concentration / 血清胆汁酸浓度异常
HP:0030985: Decreased serum bile acid concentration / 血清胆汁酸水平降低
HP:0030986: Biliary epithelial hyperplasia / 胆管上皮增生
HP:0030987: Suppurative cholangitis / 化脓性胆管炎
HP:0030988: Granulomatous cholangitis / 肉芽肿性胆管炎
HP:0030989: Lymphoid cholangitis / 淋巴性胆管炎
HP:0030990: Pleomorphic cholangitis / 多形性胆管炎
HP:0030991: Sclerosing cholangitis / 硬化性胆管炎
HP:0030992: Abnormal pancreatic duct morphology / 胰管形态学异常
HP:0030993: Duplication of pancreatic duct / 重复胰管
HP:0030994: Pancreas divisum / 胰腺分裂
HP:0030995: Peritoneal effusion / 腹膜渗出物
HP:0030996: Megaduodenum / 巨十二指肠
HP:0030997: Atretic vas deferens / 输精管闭锁
HP:0030998: Cerebrospinal fluid rhinorrhoea / 脑脊液鼻漏
HP:0030999: Abnormal vestibular saccule morphology / 球囊形态异常
HP:0031000: Vestibular saccular degeneration / 球囊退行性变
HP:0031001: Minifascicle formation / 微神经束结构
HP:0031002: Neuritis / 神经炎
HP:0031003: Polyneuritis / 多发性神经炎
HP:0031004: Hemiareflexia / 偏侧反射消失
HP:0031006: Acroparesthesia / 肢端感觉障碍
HP:0031007: Orofacial action-specific dystonia induced by speech / 说话诱发的口面部肌张力障碍
HP:0031008: Lingual dystonia / 舌肌肌张力障碍
HP:0031009: Ainhum / 箍趾病
HP:0031010: Hyperphalangy of the 3rd finger / 第三指多指节
HP:0031011: Fatty streak / 脂纹
HP:0031012: Thin-cap fibroatheroma / 薄纤维帽粥样斑块
HP:0031013: Ankylosis / 关节僵硬
HP:0031014: Arteria lusoria / 压迫性动脉
HP:0031015: Intrahepatic portal vein sclerosis / 肝内门静脉硬化
HP:0031016: Alternating radiolucent and radiodense metaphyseal lines / 正常密度与和高密度交替出现的干骺线
HP:0031017: Swiss cheese atrial septal defect / 瑞士干酪样房间隔缺损
HP:0031018: Eccrine syringofibroadenoma / 小汗腺汗管纤维腺瘤
HP:0031019: Pyknotic bone marrow neutrophils / 致密骨髓中性粒细胞
HP:0031020: Bone marrow hypercellularity / 骨髓细胞过多
HP:0031021: Squamous Papilloma / 鳞状细胞乳头状瘤
HP:0031022: Oropharyngeal squamous papilloma / 口咽部鳞状细胞乳头状瘤
HP:0031023: Multiple mucosal neuromas / 多发性粘膜神经瘤
HP:0031024: Cylindroma / 圆柱瘤
HP:0031025: Gastric leiomyosarcoma / 胃平滑肌肉瘤
HP:0031026: Snail-like ilia / 蜗牛状髂骨
HP:0031027: Internal notch of the femoral head / 股骨头内陷
HP:0031028: Lactescent serum / 乳状血清
HP:0031029: Elevated carcinoembryonic antigen level / 癌胚抗原水平增高
HP:0031030: Elevated carcinoma antigen 125 level / 癌抗原CA125水平增高
HP:0031031: Abnormal retinol-binding protein level / 视黄醇结合蛋白水平异常
HP:0031032: Decreased retinol-binding protein level / 视黄醇结合蛋白水平降低
HP:0031033: Impaired urinary acidification / 尿酸化受损
HP:0031034: Abnormal insulin like growth factor binding protein acid labile subunit level / 胰岛素样生长因子结合蛋白酸不稳定亚单位的水平异常
HP:0031035: Chronic infection / 慢性感染
HP:0031036: Reduced growth-hormone binding protein level / 生长激素结合蛋白水平降低
HP:0031037: Reduced insulin-like factor 3 level / 胰岛素样因子3水平降低
HP:0031038: Spermatogenesis maturation arrest / 生精成熟阻滞
HP:0031039: Early spermatogenesis maturation arrest / 早期生精阻滞
HP:0031040: Late spermatogenesis maturation arrest / 晚期生精阻滞
HP:0031041: Obstruction of the superior vena cava / 上腔静脉梗阻
HP:0031042: Strawberry tongue / 草莓舌
HP:0031043: Type A4 brachydactyly / A4型短指畸形
HP:0031044: Type A5 brachydactyly / A5型短指畸形
HP:0031045: Acral blistering / 肢端水泡
HP:0031046: Absent soft palate / 软腭缺损
HP:0031047: Paraproteinemia / 副蛋白血症
HP:0031048: Light-chain paraproteinemia / 轻链副蛋白血症
HP:0031049: Heavy-chain paraproteinemia / 重链副蛋白血症
HP:0031050: Whole-immunoglobulin paraproteinemia / 全免疫球蛋白副蛋白血症
HP:0031051: Tarsal sclerosis / 跗骨硬化
HP:0031052: Elevated vascular endothelial growth factor level / 血管内皮生长因子水平升高
HP:0031053: Coarctation in the transverse aortic arch / 横向主动脉弓缩窄
HP:0031054: Long segment coarctation of the aorta / 主动脉长段缩窄
HP:0031055: Abnormal branching pattern of left aortic arch / 左主动脉弓分支异常
HP:0031056: Fusiform cerebral aneurysm / 梭形脑动脉瘤
HP:0031057: Skin fissure / 皮肤裂痕
HP:0031058: Impairment of activities of daily living / 日常生活活动障碍
HP:0031059: Impaired ability to bathe oneself / 洗澡能力受损
HP:0031060: Impaired ability to dress oneself / 穿衣能力受损
HP:0031061: Impaired toileting ability / 如厕能力受损
HP:0031062: Impaired transferring ability / 转移活动能力受损
HP:0031063: Impaired feeding ability / 进食能力受损
HP:0031064: Impaired continence / 失禁
HP:0031065: Abnormal ovarian morphology / 卵巢形态异常
HP:0031066: Abnormal ovarian physiology / 卵巢生理异常
HP:0031067: Empty ovarian follicle / 卵巢空卵泡
HP:0031069: Abnormal femoral torsion / 股骨异常扭转
HP:0031071: Abnormal endocrine morphology / 内分泌形态学异常
HP:0031072: Abnormal endocrine physiology / 内分泌生理学异常
HP:0031073: Abnormal response to endocrine stimulation test / 内分泌刺激试验反应异常
HP:0031074: Abnormal response to ACTH stimulation test / ACTH刺激试验反应异常
HP:0031075: Abnormal response to insulin tolerance test / 胰岛素耐量试验反应异常
HP:0031076: Impaired cortisol response to insulin stimulation test / 皮质醇对胰岛素刺激试验的反应受损
HP:0031077: Abnormal response to corticotropin releasing hormone stimulation test / 促肾上腺皮质激素释放激素刺激试验反应异常
HP:0031078: Impaired cortisol response to corticotropin releasing hormone stimulation test / 皮质醇对促肾上腺皮质激素释放激素刺激试验的反应受损
HP:0031079: Impaired growth-hormone response to insulin stimulation test / 生长激素对胰岛素刺激试验的反应受损
HP:0031080: Abnormal response to glucagon stimulation test / 胰高血糖素刺激试验反应异常
HP:0031081: Impaired cortisol response to glucagon stimulation test / 皮质醇对胰高血糖素刺激试验的反应受损
HP:0031082: Impaired growth-hormone response to glucagon stimulation test / 生长激素对胰高血糖素刺激试验的反应受损
HP:0031083: Abnormal response to human chorionic gonadotrophin stimulation test / 人绒毛膜促性腺激素刺激试验反应异常
HP:0031084: Excessive insulin response to glucagon test / 胰岛素对胰高血糖素试验反应过度
HP:0031085: Decreased prealbumin level / 前白蛋白水平降低
HP:0031086: Ectopic ovary / 卵巢异位
HP:0031087: Absent pubertal growth spurt / 缺乏青春期生长突增
HP:0031088: Vaginal dryness / 阴道干涩
HP:0031089: Palatal edema / 腭水肿
HP:0031090: Finger dactylitis / 手指发炎
HP:0031091: Toe dactylitis / 脚趾发炎
HP:0031092: Spindle-shaped finger / 梭状指
HP:0031093: Abnormal breast morphology / 乳房形态异常
HP:0031094: Abnormal breast physiology / 乳房生理异常
HP:0031095: Abnormal humerus morphology / 肱骨形态异常
HP:0031096: Delayed vertebral ossification / 椎骨骨化延迟
HP:0031097: Abnormal thyroid-stimulating hormone level / 促甲状腺激素水平异常
HP:0031098: Decreased thyroid-stimulating hormone level / 促甲状腺激素水平降低
HP:0031099: Abnormal circulating inhibin level / 循环抑制素水平异常
HP:0031100: Decreased inhibin B level / 抑制素B水平降低
HP:0031101: Abnormal circulating antimullerian hormone concentration / 血液抗苗勒氏管激素水平异常
HP:0031102: Increased antimullerian hormone level / 抗苗勒氏管激素水平升高
HP:0031103: Decreased antimullerian hormone level / 抗苗勒氏管激素水平降低
HP:0031104: Insulin receptor antibody positivity / 胰岛素受体抗体阳性
HP:0031105: Abnormal uterus morphology / 子宫形态异常
HP:0031106: T-shaped uterus / T-形子宫
HP:0031107: Decreased fibular diameter / 腓骨直径减小
HP:0031108: Triceps weakness / 肱三头肌无力
HP:0031109: Agalactia / 无泌乳
HP:0031110: Twin-to-twin transfusion / 双胎输血
HP:0031111: Cutaneous hamartoma / 皮肤的错构瘤
HP:0031117: Purely bicuspid aortic valve / 无嵴型二叶主动脉瓣
HP:0031118: Single raphe bicuspid aortic valve / 单嵴型二叶主动脉瓣
HP:0031119: Bicuspid aortic valve with right-left cusp fusion / 左右尖瓣融合型二叶主动脉瓣
HP:0031120: Bicuspid aortic valve with right-noncoronary cusp fusion / 右冠窦无冠窦融合型二叶主动脉瓣
HP:0031121: Bicuspid aortic valve with left-noncoronary cusp fusion / 左冠窦无冠窦融合型二叶主动脉瓣
HP:0031122: Two-raphe bicuspid aortic valve / 双嵴型二叶主动脉瓣
HP:0031123: Recurrent gastroenteritis / 复发性肠胃炎
HP:0031124: Decreased platelet thromboxane A2 receptor / 血小板血栓素A2受体减少
HP:0031125: Decreased platelet alpha-2A-adrenergic receptor / 血小板肾上腺素ɑ2a受体减少
HP:0031126: Impaired clot retraction / 血凝块回缩受损
HP:0031127: Impaired convulxin-induced platelet aggregation / convulxin诱导的血小板聚集反应受损
HP:0031128: Impaired collagen-related peptide-induced platelet aggregation / 胶原相关肽诱导的血小板凝集受损
HP:0031129: Impaired phorbol myristate acetate-induced platelet aggregation / PMA诱导的血小板聚集功能受损
HP:0031130: Impaired calcium ionophore-induced platelet aggregation / 钙离子通道剂诱导的血小板聚集受损
HP:0031131: Abnormal platelet phosphatidylserine exposure / 血小板磷脂酰丝氨酸暴露异常
HP:0031132: Impaired annexin V binding to platelet phosphatidylserine / 膜联蛋白 V 与血小板磷脂酰丝氨酸结合受损
HP:0031133: Increased annexin V binding to platelet phosphatidylserine / 膜联蛋白 V 与血小板磷脂酰丝氨酸结合增加
HP:0031134: Cor triatrium sinister / 左侧三房心
HP:0031135: Triggered by physical trauma / 物理创伤引发
HP:0031136: Decreased acrosin in sperm head / 精子头顶体酶降低
HP:0031137: Storage in hepatocytes / 肝细胞储积
HP:0031138: Abnormal B-type natriuretic peptide level / B型钠尿肽水平异常
HP:0031139: Frog-leg posture / 蛙足姿势
HP:0031140: Abnormal liver sonography / 肝脏超声异常
HP:0031141: Increased hepatic echogenicity / 肝回声增强
HP:0031142: Abnormal hepatic echogenicity / 肝脏回声异常
HP:0031143: Decreased hepatic echogenicity / 肝回声降低
HP:0031144: Coarsened hepatic echotexture / 肝实质回声增粗
HP:0031145: Starry sky appearance on hepatic sonography / 肝脏满天星样改变
HP:0031146: Impaired oral bolus formation / 口腔内食物成团状能力受损
HP:0031150: Vitreomacular adhesion / 玻璃体黄斑粘连
HP:0031151: Vitreomacular traction / 玻璃体黄斑牵拉
HP:0031152: Full-thickness macular hole / 黄斑全层裂孔
HP:0031153: Membranous vitreous appearance / 玻璃体膜状外观
HP:0031154: Beaded vitreous appearance / 玻璃体珠状外观
HP:0031155: Increased Arden ratio of electrooculogram / 眼电图Arden比增高
HP:0031156: Decreased platelet glycoprotein Ib / 血小板膜上糖蛋白Ib减少
HP:0031157: Carotid cavernous fistula / 颈动脉海绵窦瘘
HP:0031158: Widened atrophic scar / 萎缩性疤痕增宽
HP:0031159: Thinning of Descemet membrane / 后弹力层变薄
HP:0031160: Myelokathexis / 无效生成性慢性粒细胞缺乏
HP:0031161: Reduced brain glutamate level by MRS / MRS分析大脑谷氨酸盐水平偏低
HP:0031162: Impaired oropharyngeal swallow response / 吞咽反应障碍
HP:0031163: Low femoral bone density / 股骨骨密度降低
HP:0031164: Growth arrest lines / 生长停滞线
HP:0031165: Multifocal seizures / 多灶性癫痫发作
HP:0031166: Eyelid myokymia / 眼睑肌颤搐
HP:0031167: Triggered by ingestion of potassium-rich food / 含钾食物引发
HP:0031169: Postterm pregnancy / 过期妊娠
HP:0031170: Female fetal virilization / 女性胎儿男性化
HP:0031171: Femoral spur / 股骨骨刺
HP:0031172: Sectoral retinitis pigmentosa / 扇形视网膜色素变性
HP:0031173: Tibial spur / 胫骨骨刺
HP:0031174: Double-layered patella / 双层髌骨
HP:0031175: Absent cervical vertebra / 颈椎缺失
HP:0031176: Absent thoracic vertebra / 胸椎缺失
HP:0031177: Finger flexor weakness / 指屈肌无力
HP:0031178: Fixed head retroflexion / 固定头后屈
HP:0031179: Nuchal rigidity / 颈部僵硬
HP:0031180: Erythema migrans / 游走性红斑
HP:0031181: Necrolytic migratory erythema / 坏死松解性游走性红斑
HP:0031185: Increased circulating NT-proBNP concentration / NT-proBNP水平增高
HP:0031186: Abnormal circulating deoxycorticosterone level / 循环脱氧皮质酮水平异常
HP:0031187: Abnormal circulating pregnenolone concentration / 循环孕烯醇酮浓度异常
HP:0031188: Genital edema / 生殖器水肿
HP:0031189: Wrist drop / 垂腕
HP:0031190: Superficial dermal perivascular inflammatory infiltrate / 真皮浅层血管周围炎性浸润
HP:0031191: Deep dermal perivascular inflammatory infiltrate / 真皮深层血管周围炎性浸润
HP:0031192: Abnormal morphology of left ventricular trabeculae / 左心室小梁形态异常
HP:0031193: Abnormal morphology of right ventricular trabeculae / 右心室小梁形态异常
HP:0031194: Increased density of left ventricular trabeculae / 左心室小梁密度增加
HP:0031195: Apical hypertrabeculation of the left ventricle / 左室心尖过度小梁化
HP:0031196: Thin myocardium compact layer / 心肌致密层变薄
HP:0031197: Cellular urinary casts / 细胞管型
HP:0031198: Renal tubular epithelial cell casts / 肾小管上皮细胞管型
HP:0031199: Acellular urinary casts / 非细胞管型
HP:0031200: Hyaline casts / 透明管型
HP:0031201: Granular casts / 颗粒管型
HP:0031202: Waxy casts / 蜡样管型
HP:0031203: Fatty casts / 脂肪管型
HP:0031204: Bacterial cell casts / 细菌细胞管型
HP:0031205: Reduced lysosomal acid lipase activity / 溶酶体酸性脂肪酶活性降低
HP:0031206: Striatal T2 hyperintensity / 纹状体T2高信号
HP:0031207: Hepatic hemangioma / 肝血管瘤
HP:0031208: Increased pituitary glycoprotein hormone alpha subunit level / 垂体糖蛋白α-亚基水平升高
HP:0031209: Decreased circulating lipoprotein lipase concentration / 脂蛋白脂肪酶活性降低
HP:0031210: Abnormal circulating hyaluronic acid concentration / 循环透明质酸浓度异常
HP:0031211: Elevated cholesterol ester level / 胆固醇酯水平增高
HP:0031212: Abnormal circulating progesterone level / 循环孕激素水平异常
HP:0031213: Elevated circulating 17-hydroxyprogesterone / 循环17-羟孕酮升高
HP:0031214: Decreased circulating dehydroepiandrosterone concentration / 循环脱氢表雄酮浓度下降
HP:0031215: Decreased circulating dehydroepiandrosterone-sulfate concentration / 循环脱氢表雄酮-硫酸酯浓度降低
HP:0031216: Increased circulating progesterone / 循环孕激素升高
HP:0031217: Hot flashes / 热潮红
HP:0031218: Inappropriate antidiuretic hormone secretion / 抗利尿激素分泌失衡
HP:0031219: Reduced radioactive iodine uptake / 放射性碘摄取减少
HP:0031220: Increased radioactive iodine uptake / 放射性碘摄取增多
HP:0031221: Abnormal radioactive iodine uptake test result / 放射性碘摄取试验异常
HP:0031222: Increased circulating thyroxine-binding globulin level / 循环甲状腺结合球蛋白水平增高
HP:0031223: Focal pancreatic islet hyperplasia / 局灶性胰岛增生