TaoMedAI/RareMedData huggingface dataset:
HP:0025508: Gottron's papules / Gottron丘疹
HP:0025509: Piezogenic pedal papules / 压迫性足部丘疹
HP:0025510: Nevus spilus / 斑痣
HP:0025511: Nevus sebaceus / 皮脂腺痣
HP:0025512: Skin-colored papule / 肤色丘疹
HP:0025513: Scleral rupture / 巩膜破裂
HP:0025514: Morning glory anomaly / 牵牛花样视盘发育异常
HP:0025515: Delayed thelarche / 乳房发育延迟
HP:0025516: Coronary-pulmonary artery fistula / 冠状肺动脉瘘
HP:0025517: Hypoplastic hippocampus / 海马回发育不良
HP:0025518: Visual gaze preference / 视觉凝视偏好
HP:0025519: Multiple biliary hamartomas / 多发性胆管错构瘤
HP:0025520: Calcinosis cutis / 皮肤钙质沉着症
HP:0025521: Increased body fat percentage / 体脂百分比增加
HP:0025522: Elongated chordae tendinae of the mitral valve / 二尖瓣腱索延长
HP:0025523: Abnormal morphology of the chordae tendinae of the mitral valve / 二尖瓣腱索形态异常
HP:0025524: Palmoplantar scaling skin / 掌跖鱼鳞样皮损
HP:0025525: Scaling skin on fingertip / 指尖鱼鳞样皮损
HP:0025526: Psoriasiform lesion / 银屑病样皮损
HP:0025527: Serpiginous cutaneous lesion / 匐行性皮肤病变
HP:0025528: Annular cutaneous lesion / 环状皮肤病变
HP:0025529: Hyperpigmented nodule / 色素沉着结节
HP:0025530: Xanthomas of the palmar creases / 手掌褶皱黄色瘤
HP:0025531: Harlequin phenomenon / 小丑皮肤现象
HP:0025532: Positive pathergy test / 针刺反应阳性
HP:0025533: Peau d'orange / 桔皮化
HP:0025534: Ocular melanocytosis / 巩膜黑变病
HP:0025535: Shawl sign / 披肩征
HP:0025536: V-sign / V字征
HP:0025537: Plantar edema / 足底水肿
HP:0025538: Palmar edema / 手掌水肿
HP:0025539: Abnormal B cell subset distribution / B细胞亚群分布异常
HP:0025540: Abnormal T cell subset distribution / T细胞亚群分布异常
HP:0025546: Abnormal mean corpuscular hemoglobin concentration / 红细胞平均血红蛋白含量异常
HP:0025547: Decreased mean corpuscular hemoglobin concentration / 红细胞平均血红蛋白量减低
HP:0025548: Increased mean corpuscular hemoglobin concentration / 红细胞平均血红蛋白量增多
HP:0025549: Eccentric visual fixation / 偏心注视
HP:0025550: Elevated circulating ribitol concentration / 核糖醇浓度增高
HP:0025551: Optic nerve misrouting / 视神经错路
HP:0025552: Periorbital purpura / 眶周紫癜
HP:0025553: Periorbital ecchymosis with tarsal plate sparing / 不累及睑板的眶周瘀斑
HP:0025554: Yellow nodule / 黄色结节
HP:0025555: Periungual teleangiectasia / 甲周毛细血管扩张
HP:0025558: Lamellar cataract with riders / 板层白内障（绕核白内障）
HP:0025559: Coronary cataract / 冠状白内障
HP:0025560: Anterior chamber cells / 前房细胞
HP:0025561: Anterior chamber cells grade 1+ / 前房细胞等级1+
HP:0025562: Anterior chamber cells grade 0.5+ / 前房细胞等级0.5+
HP:0025563: Anterior chamber cells grade 0 / 前房细胞等级0
HP:0025564: Anterior chamber cells grade 2+ / 前房细胞等级2+
HP:0025565: Anterior chamber cells grade 3+ / 前房细胞等级3+
HP:0025566: Anterior chamber cells grade 4+ / 前房细胞等级4+
HP:0025567: Central serous chorioretinopathy / 中心性浆液性脉络膜视网膜病变
HP:0025568: Abnormal morphology of the choroidal vasculature / 脉络膜血管形态异常
HP:0025569: Polypoidal choroidal vasculopathy / 息肉样脉络膜血管病变
HP:0025570: Choroidal vascular hyperpermeability / 脉络膜血管高通透状态
HP:0025571: Christmas tree cataract / 圣诞树样白内障
HP:0025572: Punctal stenosis / 泪小点膜性闭塞
HP:0025573: Mild myopia / 轻度近视
HP:0025574: Macular hemorrhage / 黄斑出血
HP:0025575: Abnormal superior vena cava morphology / 上腔静脉形态异常
HP:0025576: Abnormal inferior vena cava morphology / 下腔静脉畸形
HP:0025578: Aortic valve prolapse / 主动脉瓣脱垂
HP:0025579: Abnormal left atrium morphology / 左心房形态异常
HP:0025580: Abnormal right atrium morphology / 右心房形态异常
HP:0025581: Foveal hemorrhage / 视网膜中央凹出血
HP:0025582: Submacular hemorrhage / 黄斑下出血
HP:0025583: Tapetal-like fundal reflex / 绒毡层样眼底反射
HP:0025584: Hypotropia / 下斜视
HP:0025585: Hyperphoria / 上隐斜
HP:0025586: Hypertropia / 上斜视
HP:0025587: Hyperdeviation / 双眼视轴偏差
HP:0025588: Hypodeviation / 下斜视
HP:0025589: Cyclodeviation / 旋转偏斜
HP:0025590: Abnormal extraocular muscle physiology / 眼外肌生理异常
HP:0025591: Abnormal superior oblique muscle physiology / 上斜肌生理异常
HP:0025592: Superior oblique muscle weakness / 上斜肌无力
HP:0025593: Superior oblique muscle restriction / 上斜肌受限
HP:0025594: Superior oblique muscle overaction / 上斜肌活动亢进
HP:0025595: Superior oblique muscle underaction / 上斜肌欠活跃
HP:0025596: Abnormal inferior oblique muscle physiology / 下斜肌生理异常
HP:0025597: Inferior oblique muscle restriction / 下斜肌受限
HP:0025598: Inferior oblique muscle weakness / 下斜肌无力
HP:0025599: Inferior oblique muscle overaction / 下斜肌动作亢进
HP:0025600: Abnormal inferior rectus muscle physiology / 下直肌动作亢进
HP:0025601: Inferior rectus muscle weakness / 下直肌无力
HP:0025602: Inferior rectus muscle restriction / 下直肌受限
HP:0025603: Abnormal superior rectus muscle physiology / 上直肌生理异常
HP:0025604: Orbital schwannoma / 眼眶神经鞘瘤
HP:0025605: Lid lag on downgaze / 上睑闭合延迟
HP:0025606: Abnormal medial rectus muscle physiology / 内直肌生理异常
HP:0025607: Upper eyelid entropion / 上眼睑内翻
HP:0025608: Cicatricial ectropion / 瘢痕性睑外翻
HP:0025609: Anterior blepharitis / 前部睑缘炎
HP:0025610: Posterior blepharitis / 后睑缘炎
HP:0025611: Epicanthus superciliaris / 眉弓内眦赘皮
HP:0025612: Corneal astigmatism / 角膜性散光
HP:0025613: Focal emotional seizure / 局灶性情绪癫痫发作
HP:0025615: Abscess / 脓肿
HP:0025616: Sterile abscess / 无菌性脓肿
HP:0025617: Abnormal plasma cell count / 浆细胞计数异常
HP:0025618: Reduced plasma cell count / 浆细胞计数降低
HP:0025619: Elevated plasma cell count / 浆细胞计数升高
HP:0025620: Abnormal proportion of CD4+ central memory cells / CD4 + 中央型记忆T细胞比例异常
HP:0025623: Abnormal proportion of CD4+ effector memory cells / CD4+效应记忆T细胞比例异常
HP:0025624: Reduced proportion of CD4+ effector memory T cells / CD4+效应记忆T细胞比例降低
HP:0025625: Elevated proportion of CD4+ effector memory T cells / CD4+效应记忆T细胞比例升高
HP:0025626: Increased circulating oleate level / 血液油酸酯水平升高
HP:0025627: Increased circulating octadecanoate level / 血液十八碳酯水平升高
HP:0025628: Increased circulating myristoleate level / 血液豆蔻酸盐水平升高
HP:0025629: Anti-myelin-associated glycoprotein antibody positivity / 抗髓磷脂相关糖蛋白抗体阳性
HP:0025630: Argininosuccinic aciduria / 精氨酸琥珀酸酯尿症
HP:0025631: Alpha-aminobutyric aciduria / α-氨基丁酸尿
HP:0025632: Reduced reactive oxygen species production in neutrophils / 中性粒细胞活性氧产生降低
HP:0025633: Abnormal ureter morphology / 输尿管形态异常
HP:0025634: Abnormal ureter physiology / 输尿管生理异常
HP:0025635: Ureteral polyp / 输尿管息肉
HP:0025636: Endometritis / 子宫内膜炎
HP:0025637: Vasospasm / 血管痉挛
HP:0025638: Elevated urinary N-butyrylglycine / 尿液N-丁酰甘氨酸水平升高
HP:0025639: Increased urinary zinc level / 尿锌水平升高
HP:0025640: Abnormal urinary mineral level / 尿液矿物质含量异常
HP:0025641: Elevated circulating glycolate concentration / 血液乙醇酸浓度升高
HP:0025643: Tarlov cyst / 塔洛夫囊肿
HP:0025644: Fixation-off epileptiform discharges / 失对焦癫痫样放电
HP:0025646: Bilateral polymicrogyria / 双侧多小脑回
HP:0025647: Steroid-sensitive nephrotic syndrome / 类固醇敏感性肾病综合征（激素敏感型肾病综合征）
HP:0025648: Steroid-sensitive nephrotic syndrome with infrequent relapses / 类固醇敏感性肾病综合征，偶复发（罕见复发的类固醇敏感性肾病综合征 ）
HP:0025649: Steroid-sensitive nephrotic syndrome with frequent relapses / 类固醇敏感性肾病综合征，常复发
HP:0025650: Steroid-dependent nephrotic syndrome / 类固醇依赖性肾病综合征（激素依赖性肾病综合征）
HP:0025652: Abnormal placental adhesion into the uterine wall / 异常胎盘粘连侵入子宫壁
HP:0025653: Placenta percreta / 穿透性胎盘
HP:0025654: Placenta acreta / 植入性胎盘
HP:0025655: Placenta increta / 嵌入性胎盘
HP:0025656: Prenatal double bubble sign / 产前双气泡征
HP:0025657: Abnormal umbilical blood flow measurement / 脐血流测定异常
HP:0025659: Decreased circulating creatine kinase concentration / 循环肌酸激酶水平降低
HP:0025660: Chiari type II malformation / 小脑扁桃体下疝畸形（Chiari II 型畸形）
HP:0025661: Chiari type III malformation / 小脑扁桃体下疝畸形（Chiari  III 型畸形）
HP:0025662: Abnormal fetal skeletal morphology / 胎儿骨骼形态异常
HP:0025663: Reduced fetal femur/foot length ratio / 减小的胎儿股骨长/足长比值
HP:0025664: Moderate to late preterm birth / 中度到晚期早产
HP:0025665: Extremely preterm birth / 极早早产
HP:0025666: Very preterm birth / 早期早产
HP:0025667: Fetal neck anomaly / 胎儿颈部异常
HP:0025668: Abnormal neck morphology / 颈部形态异常
HP:0025669: Abnormal neck physiology / 颈部生理异常
HP:0025670: Syntelencephaly / 大脑半球中线融合
HP:0025671: Fetal pericardial effusion / 胎儿心包积液
HP:0025672: Fetal skin edema / 胎儿皮肤水肿
HP:0025673: Loculated ascites / 包裹性腹水
HP:0025674: Meconium pseudocyst / 胎粪性假性囊肿
HP:0025675: Premature closure of the ductus arteriosus / 动脉导管提前闭合
HP:0025676: Fetal pleural effusion / 胎儿胸腔积液
HP:0025677: Fetal chylothorax / 胎儿乳糜胸
HP:0025678: Fetal hydrothorax / 胎儿胸腔积液
HP:0025679: Diskitis / 关节盘炎
HP:0025680: Compound muscle action potential amplitude facilitation / 复合肌肉动作电位振幅易化
HP:0025681: Distal clavicular thinning / 锁骨远端变薄
HP:0025682: Crouch gait / 蹲伏步态
HP:0025683: Abnormal amyloid beta 42 peptide CSF concentration / 脑脊液β淀粉样蛋白42水平异常
HP:0025684: Decreased amyloid beta 42 peptide CSF concentration / 脑脊液β淀粉样蛋白42水平降低
HP:0025685: Increased amyloid beta 42 peptide CSF concentration / 脑脊液β淀粉样蛋白42水平升高
HP:0025686: Abnormal amyloid beta 40 peptide CSF concentration / 脑脊液β淀粉样蛋白40水平异常
HP:0025687: Increased amyloid beta 40 peptide CSF concentration / 脑脊液β淀粉样蛋白40水平升高
HP:0025688: Abnormal amyloid beta peptide CSF concentration / 脑脊液β淀粉样蛋白水平异常
HP:0025689: Extra-abdominal umbilical vein varix / 腹外脐静脉曲张
HP:0025690: Fetal intra-abdominal umbilical vein varix / 胎儿腹内脐静脉曲张
HP:0025691: Impaired fasting glucose / 空腹血糖受损
HP:0025692: Atelencephaly / 脑发育不全
HP:0025693: Pituitary macroadenoma / 垂体大腺瘤
HP:0025694: Pituitary microadenoma / 垂体小腺瘤
HP:0025695: Mucus plug / 粘液栓
HP:0025696: Airway casts / 气道管型
HP:0025697: Fibrin casts / 纤维管型
HP:0025698: Mucin casts / 粘液管型
HP:0025699: Perisylvian FDG hypermetabolism / 外侧裂周区氟脱氧葡萄糖高代谢
HP:0025700: Anhydramnios / 无羊水
HP:0025701: Distended jugular lymphatic sacs / 颈静脉淋巴囊扩张
HP:0025702: Type 1 schizencephaly / 1型脑裂畸形
HP:0025703: Type 2 schizencephaly / 2型脑裂畸形
HP:0025704: Type 3 schizencephaly / 3型脑裂畸形
HP:0025705: Abnormal fetal nasal bone visualization / 胎儿鼻骨成像异常
HP:0025706: Absent fetal nasal bone / 胎儿鼻骨缺如
HP:0025707: Hypoplastic nasal bone / 鼻骨发育不全
HP:0025708: Early young adult onset / 青年成人早期起病
HP:0025709: Intermediate young adult onset / 青年成人中期起病
HP:0025710: Late young adult onset / 青年成人晚期起病
HP:0025711: Convergence-retraction nystagmus / 会聚-回缩性眼球震颤
HP:0025712: Spontaneous chorioamniotic separation / 自发性绒毛膜羊膜分离
HP:0025713: Neurite dystrophy / 神经突营养不良
HP:0025714: Cerebral cortical microinfarct / 脑皮质微梗死
HP:0025715: Abnormal umbilical artery doppler waveform during pregnancy / 孕期脐动脉多普勒波形异常
HP:0025716: Fetal anemia / 胎儿贫血
HP:0025717: Skeletal muscle autophagosome accumulation / 骨骼肌自噬体蓄积
HP:0025718: Skeletal muscle hyperechogenicity / 骨骼肌高回声
HP:0025719: Maternal vascular malperfusion / 胎盘母体血管灌注不良
HP:0025720: Limited horizontal extraocular movement / 眼球外肌水平运动受限
HP:0025721: Limited vertical extraocular movement / 眼球外肌垂直运动受限
HP:0025722: Cerebral infarct / 脑梗死
HP:0025723: Abnormal fetal skin morphology / 胎儿皮肤形态异常
HP:0025724: Caseous vernix-like desquamation / 酪脂样脱屑
HP:0025725: Type 1 congenital pulmonary airway malformation / 先天性肺气道畸形1型
HP:0025726: Type 2 congenital pulmonary airway malformation / 先天性肺气道畸形2型
HP:0025727: Type 3 congenital pulmonary airway malformation / 先天性肺气道畸形3型
HP:0025728: Periventricular pseudocyst / 侧脑室旁假性囊肿
HP:0025729: Fetal vascular malperfusion / 胎儿血管灌注不良
HP:0025730: Foramen ovale aneurysm / 卵圆孔动脉瘤
HP:0030000: EMG: repetitive nerve stimulation abnormality / 肌电图: 重复性神经电刺激异常
HP:0030001: Lagopthalmos / 睑裂闭合不全
HP:0030002: Nocturnal lagophthalmos / 睡眠时睑闭合不全
HP:0030003: Paralytic lagophthalmos / 麻痹性睑裂闭合不全
HP:0030004: Cicatricial lagophthalmos / 瘢痕性睑裂闭合不全
HP:0030005: Capillary leak / 毛细血管渗漏
HP:0030006: Single fiber EMG abnormality / 单纤维肌电图异常
HP:0030007: EMG: positive sharp waves / 肌电图: 正锐波
HP:0030008: Cervical agenesis / 宫颈发育不全
HP:0030009: Cervical insufficiency / 宫颈机能不全
HP:0030010: Hydrometrocolpos / 子宫阴道积水
HP:0030011: Imperforate hymen / 处女膜闭锁
HP:0030012: Abnormal female reproductive system physiology / 女性生殖系统生理功能异常
HP:0030014: Female sexual dysfunction / 女性性功能障碍
HP:0030015: Female anorgasmia / 女性性感缺失病
HP:0030016: Dyspareunia / 性交疼痛
HP:0030017: Vaginismus / 阴道痉挛
HP:0030018: Decreased female libido / 女性性欲降低
HP:0030019: Increased female libido / 女性性欲亢进
HP:0030021: Auricular tag / 耳赘
HP:0030022: Question mark ear / 问号状耳
HP:0030023: Quelprud nodule / Quelprud 结节
HP:0030024: Pretragal ectopia / 耳屏前异位
HP:0030025: Auricular pit / 耳凹
HP:0030026: Squared superior portion of helix / 耳轮方形上部
HP:0030027: Abnormality of the nasal cartilage / 鼻软骨畸形
HP:0030028: Absent nasal cartilage / 鼻软骨缺如
HP:0030029: Splayed fingers / 分叉指
HP:0030030: Absent ray / 指（趾）骨-掌（跖）骨系列缺如
HP:0030031: Small toe / 小趾
HP:0030032: Partial absence of foot / 足部分缺如
HP:0030033: Small finger / 小指
HP:0030034: Glomerular basement membrane lamellation / 薄肾小球基底膜病
HP:0030035: Struvite nephrolithiasis / 鸟粪石型肾结石
HP:0030036: Isothenuria / 等渗尿
HP:0030037: Bifid ureter / 分叉型输尿管
HP:0030038: Enchondroma / 内生软骨瘤
HP:0030039: Fused thoracic vertebrae / 胸椎融合
HP:0030040: Fused lumbar vertebrae / 腰椎融合
HP:0030041: Schmorl's node / Schmorl's结节
HP:0030042: Incomplete ossification of pubis / 耻骨骨化不全
HP:0030043: Hip subluxation / 髋关节半脱位
HP:0030044: Flexion contracture of digit / 指/趾屈曲挛缩
HP:0030045: Serpentine fibula / S形腓骨
HP:0030046: Hypoglycosylation of alpha-dystroglycan / α-抗肌萎缩蛋白聚糖糖基化不良
HP:0030047: Abnormal lateral ventricle morphology / 侧脑室形态异常
HP:0030048: Colpocephaly / 枕角扩大畸形
HP:0030049: Brain abscess / 脑脓肿
HP:0030050: Narcolepsy / 发作性睡病
HP:0030051: Tip-toe gait / 脚尖步
HP:0030052: Inguinal freckling / 腹股沟雀斑
HP:0030053: Stiff skin / 硬皮
HP:0030054: Perifollicular fibrosis / 毛囊周围纤维化
HP:0030055: Hyperconvex toenail / 趾甲过凸
HP:0030056: Uncombable hair / 蓬发
HP:0030057: Autoimmune antibody positivity / 自身免疫性抗体阳性
HP:0030058: Sickled erythrocytes / 镰状红细胞
HP:0030059: Mitochondrial depletion / 线粒体DNA耗竭
HP:0030060: Nervous tissue neoplasm / 神经组织肿瘤
HP:0030061: Neuroectodermal neoplasm / 神经外胚层肿瘤
HP:0030062: Craniopharyngioma / 颅咽管瘤
HP:0030063: Neuroepithelial neoplasm / 神经上皮肿瘤
HP:0030064: Neurocytoma / 神经细胞瘤
HP:0030065: Primitive neuroectodermal tumor / 原始神经外胚层肿瘤
HP:0030066: Ependymoblastoma / 室管膜母细胞瘤
HP:0030067: Peripheral primitive neuroectodermal neoplasm / 外周原始神经外胚层肿瘤
HP:0030068: Olfactory esthesioneuroblastoma / 嗅神经母细胞瘤
HP:0030069: Primary central nervous system lymphoma / 原发性中枢神经系统淋巴瘤
HP:0030070: Central primitive neuroectodermal tumor / 中枢性原始神经外胚层肿瘤
HP:0030071: Medulloepithelioma / 髓上皮瘤
HP:0030072: Paranasal sinus neoplasm / 副鼻窦肿瘤
HP:0030074: Chemodectoma / 化学感受器瘤
HP:0030075: Ductal carcinoma in situ / 导管原位癌
HP:0030076: Lobular carcinoma in situ / 小叶原位癌
HP:0030077: Bronchial neoplasm / 支气管肿瘤
HP:0030078: Lung adenocarcinoma / 肺腺癌
HP:0030079: Cervix cancer / 宫颈癌
HP:0030080: Burkitt lymphoma / Burkitt淋巴瘤
HP:0030081: Punctate periventricular T2 hyperintense foci / 脑室周围白质点状T2高信号灶
HP:0030082: Abnormal drinking behavior / 饮酒行为异常
HP:0030083: Salt craving / 嗜盐
HP:0030084: Clinodactyly / 指（趾）内弯
HP:0030085: Abnormal CSF lactate concentration / 脑脊液乳酸水平异常
HP:0030086: Reduced CSF lactate / 脑脊液乳酸减少
HP:0030087: Abnormal circulating testosterone concentration / 血液睾酮水平异常
HP:0030088: Increased serum testosterone level / 血清睾酮水平增高
HP:0030089: Abnormal muscle fiber protein expression / 肌纤维蛋白表达异常
HP:0030090: Abnormal muscle fiber merosin expression / 肌纤维层粘连蛋白α2表达异常
HP:0030091: Absent muscle fiber merosin / 肌纤维层粘连蛋白α2缺乏
HP:0030092: Reduced muscle fiber merosin / 肌纤维层粘连蛋白α2减少
HP:0030093: Abnormal muscle fiber laminin beta 1 / 肌纤维层粘连蛋白β1异常
HP:0030094: Reduced muscle fiber laminin beta 1 / 肌纤维层粘连蛋白β1减少
HP:0030095: Reduced muscle collagen VI / 肌肉胶原蛋白VI型减少
HP:0030096: Abnormal muscle fiber dystrophin expression / 肌肉纤维抗肌萎缩蛋白表达异常
HP:0030097: Absent muscle dystrophin expression / 抗肌萎缩蛋白表达缺乏
HP:0030098: Reduced muscle dystrophin expression / 抗肌萎缩蛋白表达减少
HP:0030099: Reduced muscle fiber alpha dystroglycan / 肌纤维α-肌营养不良蛋白聚糖减少
HP:0030100: Abnormal muscle fiber alpha sarcoglycan / 肌纤维α-肌聚糖异常
HP:0030101: Absent muscle fiber alpha sarcoglycan / 肌肉纤维α-肌聚糖缺乏
HP:0030102: Reduced muscle fiber alpha sarcoglycan / 肌肉纤维α-肌聚糖减少
HP:0030103: Abnormal muscle fiber beta sarcoglycan / 肌肉纤维β-肌聚糖异常
HP:0030104: Abnormal muscle fiber gamma sarcoglycan / 肌肉纤维γ-肌聚糖异常
HP:0030105: Abnormal muscle fiber delta sarcoglycan / 肌肉纤维δ-肌聚糖异常
HP:0030106: Absent muscle fiber beta sarcoglycan / 肌肉纤维β-肌聚糖缺乏
HP:0030107: Reduced muscle fiber beta sarcoglycan / 肌肉纤维β-肌聚糖减少
HP:0030108: Reduced muscle fiber gamma sarcoglycan / 肌肉纤维γ-肌聚糖减少
HP:0030109: Absent muscle fiber gamma sarcoglycan / 肌肉纤维γ-肌聚糖缺乏
HP:0030110: Absent muscle fiber delta sarcoglycan / 肌肉纤维δ-肌聚糖缺乏
HP:0030111: Reduced muscle fiber delta sarcoglycan / 肌肉纤维δ-肌聚糖减少
HP:0030112: Abnormal muscle fiber alpha dystroglycan / 肌纤维α-肌营养不良蛋白聚糖异常
HP:0030113: Abnormal muscle fiber dysferlin / 肌肉纤维铁蛋白异常
HP:0030114: Absent muscle fiber dysferlin / 肌肉纤维铁蛋白缺乏
HP:0030115: Reduced muscle fiber dysferlin / 肌肉纤维铁蛋白减少
HP:0030116: Abnormal muscle fiber emerin / 肌纤维emerin蛋白异常
HP:0030117: Absent muscle fiber emerin / 肌纤维emerin蛋白缺失
HP:0030118: Reduced muscle fiber emerin / 肌纤维emerin蛋白减少
HP:0030119: Abnormal muscle fiber calpain-3 / 肌肉纤维钙蛋白酶-3异常
HP:0030120: Absent muscle fiber calpain-3 / 肌肉纤维钙蛋白酶3缺乏
HP:0030121: Reduced muscle fiber calpain-3 / 肌肉纤维钙蛋白酶-3减少
HP:0030122: Reduced muscle fiber perlecan / 肌肉纤维perlecan聚糖减少
HP:0030123: Abnormal muscle fiber lamin A/C / 肌肉纤维核纤层蛋白 A/C 异常
HP:0030124: Reduced muscle fiber lamin A/C / 肌肉纤维核纤层蛋白 A/C 减少
HP:0030125: Sacralization of the fifth lumbar vertebra / 第5腰椎骶椎化
HP:0030126: Abnormal endometrium morphology / 子宫内膜形态异常
HP:0030127: Endometriosis / 子宫内膜异位症
HP:0030129: Impaired ristocetin cofactor assay activity / 瑞斯托菌素辅因子测定活性减低
HP:0030130: Impaired von Willibrand factor collagen binding activity / 血管性血友病因子胶原结合活性降低
HP:0030131: Abnormal von Willebrand factor multimer distribution / 血管性血友病因子多聚体分布异常
HP:0030132: Absence of large von Willibrand factor multimers / 大型血管性血友病因子多聚体缺失
HP:0030133: Abnormal presence of ultra-large von Willebrand factor multimers / 异常存在超大型血管性血友病因子多聚体
HP:0030134: Total absence von Willebrand factor multimers / 血管性血友病因子多聚体完全缺失
HP:0030135: Absence of intermediate von Willibrand factor multimers / 中间型血管性血友病因子多聚体缺乏
HP:0030136: Enhanced ristocetin cofactor assay activity / 瑞斯托菌素辅因子测定活性增高
HP:0030137: Prolonged bleeding following circumcision / 包皮环切术后出血时间延长
HP:0030138: Excessive bleeding from superficial cuts / 表皮伤口出血过多
HP:0030139: Excessive bleeding after a venipuncture / 静脉穿刺后出血过多
HP:0030140: Oral cavity bleeding / 口腔出血
HP:0030141: Abnormality of the posterior hairline / 后发际异常
HP:0030142: Abnormal bowel sounds / 肠鸣音异常
HP:0030143: Hyperactive bowel sounds / 肠鸣音亢进
HP:0030144: Hypoactive bowel sounds / 肠鸣音减弱
HP:0030145: Lack of bowel sounds / 肠鸣音消失
HP:0030146: Abnormal liver parenchyma morphology / 肝实质形态异常
HP:0030147: Truncal titubation / 躯干摇晃/躯干蹒跚
HP:0030148: Heart murmur / 心脏杂音
HP:0030149: Cardiogenic shock / 心源性休克
HP:0030150: Plasmacytosis / 浆细胞增多症
HP:0030151: Cholangitis / 胆管炎
HP:0030153: Cholangiocarcinoma / 胆管癌
HP:0030154: Gallbladder perforation / 胆囊穿孔
HP:0030155: Scrotal pain / 阴囊疼痛
HP:0030156: Bence Jones Proteinuria / 本氏蛋白尿
HP:0030157: Flank pain / 侧腹疼痛
HP:0030158: Cervical ectropion / 宫颈外翻
HP:0030159: Cervical polyp / 宫颈息肉
HP:0030160: Cervicitis / 宫颈炎
HP:0030161: Vaginal pruritus / 阴道瘙痒
HP:0030162: Glomerulomegaly / 肾小球肥大
HP:0030163: Abnormal vascular physiology / 血管生理功能异常
HP:0030164: Jaw claudication / 颌跛行
HP:0030165: Temporal artery tortuosity / 颞动脉迂曲
HP:0030166: Night sweats / 盗汗
HP:0030167: Antimitochondrial antibody positivity / 线粒体抗体阳性
HP:0030168: Dilated superficial abdominal veins / 腹壁浅静脉扩张
HP:0030169: Gastric varix / 胃静脉曲张
HP:0030170: Cystic artery pseudoaneurysm / 胆囊假性动脉瘤
HP:0030171: Perirenal hematoma / 肾周血肿
HP:0030172: Peripheral amyelination / 周围神经无髓鞘
HP:0030173: Peripheral hypermyelination / 周围神经髓鞘增生
HP:0030174: Increased peripheral myelin thickness / 周围神经髓鞘厚度增加
HP:0030175: Myelin tomacula / 腊肠状髓鞘
HP:0030176: Asymmetric peripheral demyelination / 不对称性周围神经脱髓鞘
HP:0030177: Abnormality of peripheral nervous system electrophysiology / 周围神经系统电生理异常
HP:0030178: Abnormality of central nervous system electrophysiology / 中枢神经系统电生理异常
HP:0030179: Abnormal peripheral action potential amplitude / 周围神经动作电位波幅异常
HP:0030180: Oppenheim reflex / 奥本海姆反射
HP:0030181: Gordon reflex / 戈登反射
HP:0030182: Tetraplegia/tetraparesis / 四肢瘫痪/四肢轻瘫
HP:0030183: Impaired visually enhanced vestibulo-ocular reflex / 受损的视觉增强的前庭眼反射
HP:0030185: Isometric tremor / 等轴性震颤
HP:0030186: Kinetic tremor / 动作性震颤
HP:0030187: Titubation / 蹒跚
HP:0030188: Tremor by anatomical site / 按解剖部位分类的震颤
HP:0030190: Oral motor hypotonia / 口腔运动肌张力减退
HP:0030191: Abnormal peripheral nervous system synaptic transmission / 周围神经系统突触传递异常
HP:0030192: Fatigable weakness of bulbar muscles / 口咽部肌肉疲劳性无力
HP:0030193: Fatigable weakness of chewing muscles / 咀嚼肌疲劳性无力
HP:0030194: Fatigable weakness of speech muscles / 发音肌肉疲劳性无力
HP:0030195: Fatigable weakness of swallowing muscles / 吞咽肌肉疲劳性无力
HP:0030196: Fatigable weakness of respiratory muscles / 呼吸肌疲劳性无力
HP:0030197: Fatigable weakness of skeletal muscles / 骨骼肌疲劳性无力
HP:0030198: Fatigable weakness of distal limb muscles / 远端肢体肌肉疲劳性无力
HP:0030199: Fatigable weakness of neck muscles / 颈部肌肉疲劳性无力
HP:0030200: Fatiguable weakness of proximal limb muscles / 近端肢体肌肉疲劳性无力
HP:0030201: Response to drugs acting on neuromuscular transmission / 对作用于神经肌肉传递过程的药物的反应
HP:0030202: Favorable response of weakness to acetylcholine esterase inhibitors / 肌无力对乙酰胆碱酯酶抑制剂的反应好
HP:0030203: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors / 肌无力对乙酰胆碱酯酶抑制剂的反应不佳
HP:0030205: Increased jitter at single fiber EMG / 单纤维肌电图时抖动增加
HP:0030206: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation / 肌电图: 复合肌肉动作电位对于重复神经刺激的反应递增
HP:0030207: Paradoxical respiration / 反常呼吸运动
HP:0030208: Anti-acetylcholine receptor antibody positivity / 抗乙酰胆碱受体抗体阳性
HP:0030209: Calcium channel antibody positivity / 钙通道抗体阳性
HP:0030210: Anti-muscle-specific tyrosine kinase antibody / 抗肌特异性酪氨酸激酶抗体
HP:0030211: Slow pupillary light response / 瞳孔对光反应缓慢
HP:0030212: Collectionism / 收藏癖
HP:0030213: Emotional blunting / 情感迟钝
HP:0030214: Hypersexuality / 性欲亢进
HP:0030215: Inappropriate crying / 不合时宜的哭泣
HP:0030216: Inertia / 惰性
HP:0030217: Limb apraxia / 肢体失用症
HP:0030218: Punding / 刻板运动
HP:0030219: Semantic dementia / 语义性痴呆
HP:0030220: Socially inappropriate behavior / 社交不当行为
HP:0030221: Sweet craving / 嗜甜食
HP:0030222: Visual agnosia / 视觉失认症
HP:0030223: Perseveration / 持续症现象
HP:0030224: Abnormal muscle fiber desmin / 肌肉纤维结蛋白异常
HP:0030225: Accumulation of muscle fiber desmin / 肌肉纤维结蛋白蓄积
HP:0030226: Abnormal muscle fiber myotilin / 肌纤维肌动蛋白异常
HP:0030227: Accumulation of muscle fiber myotilin / 肌纤维肌动蛋白的积累
HP:0030228: Abnormal muscle fiber valosin-containing protein / 肌肉纤维含缬酪肽蛋白异常
HP:0030229: Accumulation of muscle fiber valosin-containing protein / 肌肉纤维含缬酪肽蛋白蓄积
HP:0030230: Central core regions in muscle fibers / 肌肉纤维的中央核区域
HP:0030231: Glycogen accumulation in muscle fiber lysosomes / 肌肉纤维溶酶体糖原蓄积
HP:0030232: Increased sarcoplasmic glycogen / 肌浆糖原增加
HP:0030233: Bethlem sign / Bethlem征
HP:0030234: Highly elevated creatine kinase / 肌酸磷酸激酶明显上升
HP:0030235: Extremely elevated creatine kinase / 肌酸磷酸激酶极度上升
HP:0030236: Abnormality of muscle size / 肌肉大小异常
HP:0030237: Hand muscle weakness / 手肌无力
HP:0030239: Hypoplasia of the upper arm musculature / 上臂肌肉发育不全
HP:0030241: Hypoplasia of deltoid muscle / 三角肌发育不全
HP:0030242: Portal vein thrombosis / 门静脉血栓形成
HP:0030243: Hepatic vein thrombosis / 肝静脉血栓形成
HP:0030244: Maternal fever in pregnancy / 妊娠期间孕妇发热
HP:0030245: Intrapartum fever / 产时发热
HP:0030246: Maternal first trimester fever / 妊娠早期孕妇发烧
HP:0030247: Splanchnic vein thrombosis / 内脏静脉血栓形成
HP:0030248: Mesenteric venous thrombosis / 肠系膜静脉血栓形成
HP:0030249: Enanthema / 粘膜疹
HP:0030250: Pulmonary granulomatosis / 肺部肉芽肿
HP:0030251: Absence of memory B cells / 记忆性B细胞缺乏
HP:0030252: Absent circulating B cells / 血液B 细胞缺失
HP:0030253: Defective T cell proliferation / T 细胞增殖缺陷
HP:0030254: Nail bed hemorrhage / 甲床出血
HP:0030255: Large intestinal polyposis / 大肠息肉病
HP:0030256: Small intestinal polyposis / 小肠息肉病
HP:0030257: Freckled genitalia / 生殖器雀斑
HP:0030258: Hyperpigmented genitalia / 生殖器色素沉着过度
HP:0030259: Hypopigmented genitalia / 生殖器色素减退
HP:0030260: Microphallus / 阴茎过小
HP:0030261: Absent penis / 阴茎缺如
HP:0030262: Narrow penis / 阴茎窄小
HP:0030263: Torsion of the penis / 阴茎扭转
HP:0030264: Webbed penis / 蹼状阴茎
HP:0030265: Wide penis / 阴茎扁宽
HP:0030267: Calcification of the interosseus membrane of the forearm / 前臂骨间膜钙化
HP:0030268: Hyperplastic callus formation / 增生性愈伤组织形成
HP:0030269: Increased circulating insulin-like growth factor 1 concentration / 循环胰岛素样因子1水平升高
HP:0030270: Elevated red cell adenosine deaminase level / 红细胞腺苷脱氨酶活性增高
HP:0030271: Reduced erythrocyte 2,3-diphosphoglycerate concentration / 红细胞 2，3-二磷酸甘油酸浓度减低
HP:0030272: Abnormal erythrocyte enzyme level / 红细胞酶水平异常
HP:0030273: Reduced red cell adenosine deaminase level / 红细胞腺苷脱氨酶活性降低
HP:0030274: Accessory scrotum / 副阴囊
HP:0030275: Ectopic scrotum / 异位阴囊