TaoMedAI/RareMedData huggingface dataset:
HP:0100720: Hypoplasia of the ear cartilage / 耳软骨发育不全
HP:0100721: Mediastinal lymphadenopathy / 纵膈淋巴结病
HP:0100723: Gastrointestinal stroma tumor / 胃肠道间质肿瘤
HP:0100724: Hypercoagulability / 高凝状态
HP:0100725: Lichenification / 苔藓样变
HP:0100726: Kaposi's sarcoma / 卡波西肉瘤
HP:0100727: Histiocytosis / 组织细胞增多症
HP:0100728: Germ cell neoplasia / 生殖细胞瘤
HP:0100729: Large face / 大脸
HP:0100730: Bronchogenic cyst / 支气管囊肿
HP:0100731: Transverse facial cleft / 面横裂
HP:0100732: Pancreatic fibrosis / 胰腺纤维化
HP:0100733: Neoplasm of the parathyroid gland / 甲状旁腺肿瘤
HP:0100734: Abnormality of vertebral epiphysis morphology / 椎体骨骺形态异常
HP:0100735: Hypertensive crisis / 高血压危象
HP:0100736: Abnormal soft palate morphology / 软腭形态异常
HP:0100737: Abnormal hard palate morphology / 硬腭形态异常
HP:0100738: Abnormal eating behavior / 进食行为异常
HP:0100739: Bulimia / 贪食症
HP:0100742: Vascular neoplasm / 血管肿瘤
HP:0100743: Neoplasm of the rectum / 直肠肿瘤
HP:0100744: Abnormality of the humeroradial joint / 肱桡关节异常
HP:0100745: Abnormality of the humeroulnar joint / 肱尺关节异常
HP:0100746: Macrodactyly of finger / 手指巨指畸形
HP:0100747: Macrodactyly of toe / 巨趾畸形
HP:0100748: Muscular edema / 肌肉水肿
HP:0100749: Chest pain / 胸痛
HP:0100750: Atelectasis / 肺不张
HP:0100751: Esophageal neoplasm / 食管肿瘤
HP:0100752: Abnormal liver lobulation / 肝分叶异常
HP:0100753: Schizophrenia / 精神分裂症
HP:0100754: Mania / 躁狂
HP:0100755: Abnormality of salivation / 流涎异常
HP:0100757: Pancreatoblastoma / 胰母细胞瘤
HP:0100758: Gangrene / 坏疽
HP:0100759: Clubbing of fingers / 杵状指
HP:0100760: Clubbing of toes / 杵状趾
HP:0100761: Visceral angiomatosis / 内脏血管瘤病
HP:0100762: Hemobilia / 胆道出血
HP:0100763: Abnormality of the lymphatic system / 淋巴系统异常
HP:0100764: Lymphangioma / 淋巴管瘤
HP:0100765: Abnormality of the tonsils / 扁桃体异常
HP:0100766: Abnormal lymphatic vessel morphology / 淋巴管形态异常
HP:0100767: Abnormal placenta morphology / 胎盘异常
HP:0100768: Choriocarcinoma / 绒癌
HP:0100769: Synovitis / 滑膜炎
HP:0100770: Hyperperistalsis / 蠕动过强
HP:0100771: Hypoperistalsis / 蠕动迟缓
HP:0100773: Cartilage destruction / 软骨破坏
HP:0100774: Hyperostosis / 骨质增生
HP:0100775: Dural ectasia / 硬膜扩张
HP:0100776: Recurrent pharyngitis / 复发性咽炎
HP:0100777: Exostoses / 外生骨疣
HP:0100778: Cryoglobulinemia / 冷球蛋白血症
HP:0100779: Urogenital sinus anomaly / 泌尿生殖窦异常
HP:0100780: Conjunctival hamartoma / 结膜错构瘤
HP:0100781: Abnormal sacroiliac joint morphology / 骶髂关节形态异常
HP:0100783: Breast aplasia / 乳房发育不全
HP:0100784: Peripheral arteriovenous fistula / 外围动静脉瘘
HP:0100785: Insomnia / 失眠
HP:0100786: Hypersomnia / 过度睡眠
HP:0100787: Prostate neoplasm / 前列腺肿瘤
HP:0100788: Fused lips / 融合嘴唇
HP:0100789: Torus palatinus / 腭隆凸
HP:0100790: Hernia / 疝
HP:0100792: Acantholysis / 皮肤棘层松解
HP:0100795: Abnormally straight spine / 脊柱异常变直
HP:0100796: Orchitis / 睾丸炎
HP:0100797: Toenail dysplasia / 趾甲发育不良
HP:0100798: Fingernail dysplasia / 指甲发育不良
HP:0100799: Neoplasm of the middle ear / 中耳肿瘤
HP:0100800: Aplasia/Hypoplasia of the pancreas / 胰腺发育不良/发育不全
HP:0100801: Pancreatic aplasia / 胰腺发育不良
HP:0100802: Malposition of the stomach / 胃错位
HP:0100803: Abnormality of the periungual region / 甲周异常
HP:0100804: Ungual fibroma / 甲纤维瘤
HP:0100806: Sepsis / 脓毒症
HP:0100807: Long fingers / 长手指
HP:0100808: Gastric diverticulum / 胃憩室
HP:0100809: Scalp tenderness / 头皮压痛
HP:0100810: Pointed helix / 尖头耳轮
HP:0100811: Aplasia/Hypoplasia of the colon / 结肠发育不全/发育不良
HP:0100812: Halitosis / 口臭
HP:0100813: Testicular torsion / 睾丸扭转
HP:0100814: Blue nevus / 蓝痣
HP:0100816: Lip hyperpigmentation / 唇部色素沉着
HP:0100817: Renovascular hypertension / 肾血管性高血压
HP:0100818: Long thorax / 长胸廓
HP:0100819: Intestinal fistula / 肠瘘
HP:0100820: Glomerulopathy / 肾小球病
HP:0100821: Urethrocele / 尿道膨出
HP:0100822: Rectocele / 直肠膨出
HP:0100823: Genital hernia / 外阴疝
HP:0100825: Cheilitis / 唇炎
HP:0100826: Neoplasm of the nail / 甲肿瘤
HP:0100827: Lymphocytosis / 淋巴细胞增多症
HP:0100828: Increased T cell count / T细胞数目增多
HP:0100829: Galactorrhea / 溢乳
HP:0100830: Round ear / 圆耳
HP:0100831: Abnormality of vitamin K metabolism / 维生素K代谢异常
HP:0100832: Vitreous floaters / 玻璃体漂浮物
HP:0100833: Neoplasm of the small intestine / 小肠新生物
HP:0100834: Neoplasm of the large intestine / 大肠新生物
HP:0100835: Benign neoplasm of the central nervous system / 中枢神经系统的良性肿瘤
HP:0100836: Malignant neoplasm of the central nervous system / 中枢神经系统恶性肿瘤
HP:0100837: Atrophodermia vermiculata / 虫蚀状皮肤萎缩
HP:0100838: Recurrent cutaneous abscess formation / 复发性皮肤脓肿
HP:0100839: Hepatic agenesis / 肝脏发育不全
HP:0100840: Aplasia/Hypoplasia of the eyebrow / 眉毛发育不全
HP:0100841: Microgastria / 小胃
HP:0100842: Septo-optic dysplasia / 透明隔-视神经发育不良
HP:0100844: Pancreatic fistula / 胰瘘
HP:0100845: Anaphylactic shock / 过敏性休克
HP:0100847: Palmoplantar pustulosis / 掌跖脓疱病
HP:0100848: Neoplasm of the male external genitalia / 男性外生殖器肿瘤
HP:0100849: Neoplasm of the scrotum / 阴囊肿瘤
HP:0100850: Neoplasm of the penis / 阴茎肿瘤
HP:0100851: Abnormal emotion/affect behavior / 异常情绪/情感行为
HP:0100852: Abnormal fear/anxiety-related behavior / 恐惧/焦虑相关行为异常
HP:0100853: Hypoplastic areola / 乳晕发育不良
HP:0100854: Aplasia of the musculature / 肌肉组织发育不全
HP:0100855: Triceps hypoplasia / 三头肌发育不良
HP:0100856: Poorly ossified vertebrae / 椎骨骨化不良
HP:0100857: Flat sella turcica / 蝶鞍扁平
HP:0100858: Dilatation of celiac artery / 腹腔动脉扩张
HP:0100859: Dilatation of superior mesenteric artery / 肠系膜上动脉扩张
HP:0100860: Dilatation of Inferior mesenteric artery / 肠系膜下动脉扩张
HP:0100861: Sclerotic vertebral body / 椎体硬化
HP:0100862: Aplasia of the femoral head / 股骨头发育不全
HP:0100863: Aplasia of the femoral neck / 股骨颈发育不全
HP:0100864: Short femoral neck / 股骨颈短
HP:0100865: Broad ischia / 坐骨增宽
HP:0100866: Short iliac bones / 短髂骨
HP:0100867: Duodenal stenosis / 十二指肠狭窄
HP:0100869: Palmar telangiectasia / 手掌毛细血管扩张
HP:0100870: Plantar telangiectasia / 跖部毛细血管扩张
HP:0100871: Abnormal palm morphology / 手掌形态异常
HP:0100872: Abnormality of the plantar skin of foot / 跖部皮肤异常
HP:0100874: Thick hair / 浓发
HP:0100875: Hemimacroglossia / 舌偏侧肥大
HP:0100876: Infra-orbital crease / 下睑皱纹
HP:0100877: Renal diverticulum / 肾憩室
HP:0100878: Enlarged uterus / 子宫增大
HP:0100879: Enlarged ovaries / 卵巢增大
HP:0100880: Nephrogenic rest / 肾源性胚胎细胞残留
HP:0100881: Congenital mesoblastic nephroma / 先天性中胚层肾瘤
HP:0100882: Fibrous hamartoma / 纤维错构瘤
HP:0100883: Chorangioma / 绒膜血管瘤
HP:0100884: Compensatory scoliosis / 代偿性脊柱侧凸
HP:0100885: Lateral venous anomaly / 外侧静脉异常
HP:0100886: Abnormality of globe location / 眼球位置异常
HP:0100887: Abnormality of globe size / 眼球大小异常
HP:0100888: Interdigital loops / 指间螺纹
HP:0100889: Abnormality of the ductus choledochus / 胆总管异常
HP:0100890: Cyst of the ductus choledochus / 胆总管囊肿
HP:0100891: Bifid xiphoid process / 剑突骨裂
HP:0100892: Abnormality of the xiphoid process / 剑突异常
HP:0100893: Prominent xiphoid process / 剑突突出
HP:0100894: Broad xiphoid process / 剑突增宽
HP:0100896: Rectal polyposis / 直肠息肉病
HP:0100898: Connective tissue nevi / 结缔组织痣
HP:0100899: Sclerosis of finger phalanx / 手指指骨硬化
HP:0100900: Sclerosis of the distal phalanx of the 2nd finger / 第二指末节指骨硬化
HP:0100901: Sclerosis of the distal phalanx of the 3rd finger / 第三指末节指骨硬化
HP:0100902: Sclerosis of the distal phalanx of the 4th finger / 第四指末节指骨硬化
HP:0100903: Sclerosis of the distal phalanx of the 5th finger / 第五指末节指骨硬化
HP:0100904: Sclerosis of the middle phalanx of the 2nd finger / 第二指中节指骨硬化
HP:0100905: Sclerosis of the middle phalanx of the 3rd finger / 第三指中节指骨硬化
HP:0100906: Sclerosis of the middle phalanx of the 4th finger / 第四指中节指骨硬化
HP:0100907: Sclerosis of the middle phalanx of the 5th finger / 第五指中节指骨硬化
HP:0100908: Sclerosis of the proximal phalanx of the 2nd finger / 第二指近节指骨硬化
HP:0100909: Sclerosis of the proximal phalanx of the 3rd finger / 第三指近节指骨硬化
HP:0100910: Sclerosis of the proximal phalanx of the 4th finger / 第四指近节指骨硬化
HP:0100911: Sclerosis of the proximal phalanx of the 5th finger / 第五指近节指骨硬化
HP:0100912: Sclerosis of the distal phalanx of the thumb / 拇指末节指骨硬化
HP:0100913: Sclerosis of the proximal phalanx of the thumb / 拇指近节指骨硬化
HP:0100914: Sclerosis of the 1st metacarpal / 第一掌骨硬化
HP:0100915: Sclerosis of distal finger phalanx / 末节指骨硬化
HP:0100916: Sclerosis of middle finger phalanx / 中节指骨硬化
HP:0100917: Sclerosis of proximal finger phalanx / 近节指骨硬化
HP:0100918: Sclerosis of 2nd finger phalanx / 第二指指骨硬化
HP:0100919: Sclerosis of 3rd finger phalanx / 第三指指骨硬化
HP:0100920: Sclerosis of 4th finger phalanx / 第四指指骨硬化
HP:0100921: Sclerosis of 5th finger phalanx / 第五指指骨硬化
HP:0100922: Sclerosis of thumb phalanx / 拇指指骨硬化
HP:0100923: Clavicular sclerosis / 锁骨硬化
HP:0100924: Sclerosis of toe phalanx / 脚趾趾骨硬化
HP:0100925: Sclerosis of foot bone / 足骨硬化
HP:0100926: Sclerosis of 2nd toe phalanx / 第二趾趾骨硬化
HP:0100927: Sclerosis of 3rd toe phalanx / 第三趾趾骨硬化症
HP:0100928: Sclerosis of 4th toe phalanx / 第四趾趾骨硬化症
HP:0100929: Sclerosis of 5th toe phalanx / 第五趾趾骨硬化
HP:0100930: Sclerosis of hallux phalanx / 拇趾趾骨硬化
HP:0100931: Sclerosis of the proximal phalanx of the 2nd toe / 第二趾近节趾骨硬化
HP:0100932: Sclerosis of the proximal phalanx of the 3rd toe / 第三趾近节趾骨硬化
HP:0100933: Sclerosis of the proximal phalanx of the 4th toe / 第四趾近节趾骨硬化
HP:0100934: Sclerosis of the proximal phalanx of the 5th toe / 第五趾近节趾骨硬化
HP:0100935: Sclerosis of the middle phalanx of the 2nd toe / 第二趾中节趾骨硬化
HP:0100936: Sclerosis of the middle phalanx of the 3rd toe / 第三趾中节趾骨硬化
HP:0100937: Sclerosis of the middle phalanx of the 4th toe / 第四趾中节趾骨硬化
HP:0100938: Sclerosis of the middle phalanx of the 5th toe / 第五趾中节趾骨硬化
HP:0100939: Sclerosis of the distal phalanx of the 2nd toe / 第二趾末节趾骨硬化
HP:0100940: Sclerosis of the distal phalanx of the 3rd toe / 第三趾末节趾骨硬化
HP:0100941: Sclerosis of the distal phalanx of the 4th toe / 第四趾末节趾骨硬化
HP:0100942: Sclerosis of the distal phalanx of the 5th toe / 第五趾末节趾骨硬化
HP:0100943: Sclerosis of the proximal phalanx of the hallux / 拇趾近节趾骨硬化
HP:0100944: Sclerosis of the distal phalanx of the hallux / 拇趾末节趾骨硬化
HP:0100945: Sclerosis of the 1st metatarsal / 第一跖骨硬化
HP:0100946: Sclerosis of proximal toe phalanx / 近节趾骨骨硬化
HP:0100947: Sclerosis of middle toe phalanx / 中节趾骨硬化
HP:0100948: Sclerosis of distal toe phalanx / 末节趾骨硬化
HP:0100950: Decreased 3-hydroxyacyl-CoA dehydrogenase level / 3-羟酰基辅酶A脱氢酶水平降低
HP:0100951: Enlarged fossa interpeduncularis / 脚间窝扩大
HP:0100952: Enlarged sylvian cistern / 侧裂池扩大
HP:0100953: Enlarged interhemispheric fissure / 纵裂扩大
HP:0100954: Open operculum / 岛盖张开
HP:0100955: Giant cell granuloma of mandible / 下颌骨巨细胞肉芽肿
HP:0100957: Abnormal renal medulla morphology / 肾髓质形态异常
HP:0100958: Narrow foramen obturatorium / 闭孔狭窄
HP:0100959: Dense metaphyseal bands / 干骺端致密带
HP:0100960: Lateral ventricular asymmetry / 侧脑室不对称
HP:0100961: Enlarged hippocampus / 海马区体积扩大
HP:0100962: Shyness / 害羞
HP:0100963: Hyperesthesia / 感觉过敏
HP:0200000: Dysharmonic bone age / 骨龄发育不一致
HP:0200001: Dysharmonic accelerated bone age / 发育异常的骨龄加速
HP:0200003: Splayed epiphyses / 骨骺端膨大
HP:0200005: Abnormal shape of the palpebral fissure / 睑裂形状异常
HP:0200006: Slanting of the palpebral fissure / 睑裂倾斜
HP:0200007: Abnormal size of the palpebral fissures / 睑裂大小异常
HP:0200008: Intestinal polyposis / 肠息肉病
HP:0200011: Abnormal length of corpus callosum / 胼胝体长度异常
HP:0200012: Short corpus callosum / 短胼胝体
HP:0200013: Neoplasm of fatty tissue / 脂肪组织肿瘤
HP:0200015: Symmetric great toe depigmentation / 拇趾对称性色素脱失
HP:0200016: Acrokeratosis / 肢端角化症
HP:0200017: Cerebral white matter agenesis / 脑白质发育不全
HP:0200018: Protanomaly / 红色弱
HP:0200020: Corneal erosion / 角膜糜烂
HP:0200021: Down-sloping shoulders / 肩下斜
HP:0200022: Choroid plexus papilloma / 脉络丛乳头状瘤
HP:0200023: Priapism / 阴茎持续勃起症
HP:0200024: Premature chromatid separation / 姐妹染色单体过早分离
HP:0200025: Mandibular pain / 下颌疼痛
HP:0200026: Ocular pain / 眼痛
HP:0200028: Pretibial myxedema / 胫前粘液性水肿
HP:0200029: Vasculitis in the skin / 皮肤血管炎
HP:0200030: Punctate vasculitis skin lesions / 表皮点状血管炎
HP:0200032: Kayser-Fleischer ring / 角膜色素环
HP:0200034: Papule / 丘疹
HP:0200035: Skin plaque / 皮肤斑块
HP:0200036: Skin nodule / 皮肤结节
HP:0200037: Skin vesicle / 表皮水疱
HP:0200039: Pustule / 脓疱
HP:0200040: Epidermoid cyst / 表皮样囊肿
HP:0200041: Skin erosion / 皮肤糜烂
HP:0200042: Skin ulcer / 皮肤溃疡
HP:0200043: Verrucae / 疣
HP:0200044: Porokeratosis / 汗孔角化病
HP:0200046: Cat cry / 猫叫
HP:0200047: Chondritis of pinna / 耳廓软骨炎
HP:0200048: Cyanotic episode / 紫绀发作
HP:0200049: Upper limb hypertonia / 上肢张力增高
HP:0200050: Bracket metacarpal epiphyses / 掌骨夹板样骨骺
HP:0200053: Hemihypotrophy of lower limb / 下肢偏侧萎缩
HP:0200054: Foot monodactyly / 独趾畸形
HP:0200055: Small hand / 小手
HP:0200056: Macular scar / 黄斑瘢痕
HP:0200057: Marcus Gunn pupil / Marcus Gunn 瞳孔
HP:0200058: Angiosarcoma / 血管肉瘤
HP:0200059: Metastatic angiosarcoma / 转移性血管肉瘤
HP:0200063: Colorectal polyposis / 结直肠息肉病
HP:0200064: Asymmetry of iris pigmentation / 虹膜色素不对称
HP:0200065: Chorioretinal degeneration / 脉络膜视网膜变性
HP:0200066: Ribbonlike corneal degeneration / 带状角膜变性
HP:0200067: Recurrent spontaneous abortion / 复发性自然流产
HP:0200068: Nonprogressive visual loss / 非进行性视力下降
HP:0200070: Peripheral retinal atrophy / 周边视网膜萎缩
HP:0200071: Peripheral vitreoretinal degeneration / 周边玻璃体视网膜变性
HP:0200072: Episodic quadriplegia / 发作性四肢瘫痪
HP:0200073: Respiratory insufficiency due to defective ciliary clearance / 纤毛清除缺陷所致呼吸功能不全
HP:0200083: Severe limb shortening / 重度肢体短缩
HP:0200084: Giant cell hepatitis / 巨细胞肝炎
HP:0200085: Limb tremor / 肢体震颤
HP:0200094: Frontal open bite / 前牙开合畸形
HP:0200096: Triangular-shaped open mouth / 三角形张口
HP:0200097: Oral mucosal blisters / 口腔粘膜水泡
HP:0200098: Absent skin pigmentation / 皮肤色素缺失
HP:0200101: Decreased/absent ankle reflexes / 踝反射降低/缺如
HP:0200102: Sparse or absent eyelashes / 睫毛稀疏/无睫毛
HP:0200104: Absent fifth fingernail / 第5指甲缺损
HP:0200105: Absent fifth toenail / 第5趾甲缺损
HP:0200106: Absent/shortened dynein arms / 动力蛋白臂缺失/缩短
HP:0200107: Shortened inner dynein arms / 内动力蛋白臂缩短
HP:0200108: Shortened outer dynein arms / 外动力蛋白臂缩短
HP:0200109: Absent/shortened outer dynein arms / 外动力蛋白臂缺失/缩短
HP:0200111: Absent stapes head / 镫骨头缺失
HP:0200113: Aphalangy of hands and feet / 指（趾）骨缺如
HP:0200114: Metabolic alkalosis / 代谢性碱中毒
HP:0200116: Distal ileal atresia / 远端回肠闭锁
HP:0200117: Recurrent upper and lower respiratory tract infections / 上下呼吸道反复感染
HP:0200118: Malabsorption of Vitamin B12 / 维生素B12吸收不良
HP:0200119: Acute hepatitis / 急性肝炎
HP:0200120: Chronic active hepatitis / 慢性活动性肝炎
HP:0200122: Atypical or prolonged hepatitis / 非典型或持续性肝炎
HP:0200123: Chronic hepatitis / 慢性肝炎
HP:0200124: Chronic hepatitis due to cryptosporidium infection / 隐孢子虫感染引起的慢性肝炎
HP:0200125: Mitochondrial respiratory chain defects / 线粒体呼吸链缺陷
HP:0200127: Atrial cardiomyopathy / 心房心肌病
HP:0200128: Biventricular hypertrophy / 双心室肥厚
HP:0200133: Lumbosacral meningocele / 腰骶部脊膜膨出
HP:0200134: Epileptic encephalopathy / 癫痫性脑病
HP:0200136: Oral-pharyngeal dysphagia / 口咽部吞咽困难
HP:0200138: Bilateral choanal atresia/stenosis / 双侧后鼻孔闭锁/狭窄
HP:0200141: Small, conical teeth / 锥形小齿
HP:0200143: Megaloblastic erythroid hyperplasia / 巨幼红细胞增生异常
HP:0200146: Mucoid extracellular matrix accumulation / 粘液样细胞外基质积聚
HP:0200147: Neuronal loss in basal ganglia / 基底神经节神经元丢失
HP:0200148: Abnormal liver function tests during pregnancy / 孕期肝功能检查异常
HP:0200149: CSF lymphocytic pleiocytosis / 脑脊液淋巴细胞增生症
HP:0200150: Increased serum bile acid concentration during pregnancy / 孕期血清胆汁酸浓度增高
HP:0200151: Cutaneous mastocytosis / 皮肤肥大细胞增多症
HP:0200153: Agenesis of lateral incisor / 侧切牙发育不全
HP:0200154: Agenesis of mandibular lateral incisor / 下颌侧切牙发育不全
HP:0200158: Agenesis of permanent mandibular lateral incisor / 下颌恒侧切牙发育不全
HP:0200159: Agenesis of primary mandibular lateral incisor / 乳下颌侧切牙发育不全
HP:0200160: Agenesis of maxillary incisor / 上颌切牙发育不全
HP:0200161: Agenesis of mandibular incisor / 下颌切牙发育不全
HP:0400000: Tall chin / 高下巴
HP:0400001: Chin with vertical crease / 髁突凹陷
HP:0400002: Extra concha fold / 额外耳甲皱褶
HP:0400003: Focal absence of the external ear / 局灶性外耳缺失
HP:0400004: Long ear / 长耳
HP:0400005: Short ear / 短耳
HP:0400007: Polymenorrhea / 月经过频
HP:0400008: Menometrorrhagia / 月经过多
HP:0410000: Abnormal vomer morphology / 犁骨形态异常
HP:0410003: Cleft maxillary alveolus / 上牙槽突裂
HP:0410005: Cleft hard palate / 硬腭裂
HP:0410006: Abnormality of ophthalmic artery / 眼动脉异常
HP:0410008: Abnormality of the peripheral nervous system / 周围神经系统异常
HP:0410009: Abnormality of the somatic nervous system / 躯体神经系统异常
HP:0410010: Abnormality of somatic nerve plexus / 躯体神经丛异常
HP:0410011: Abnormality of masticatory muscle / 咀嚼肌异常
HP:0410012: Abnormal mouth floor morphology / 口底形态异常
HP:0410013: Abnormality of the submandibular region / 颌下区异常
HP:0410014: Abnormality of ganglion / 神经节异常
HP:0410015: Abnormality of ganglion of peripheral nervous system / 周围神经系统中的神经节异常
HP:0410016: Abnormality of cranial ganglion / 脑神经节异常
HP:0410017: Otitis externa / 外耳炎
HP:0410018: Recurrent ear infections / 反复耳部感染
HP:0410019: Epigastric pain / 上腹部疼痛
HP:0410020: Fish odor / 鱼腥味
HP:0410021: Musty odor / 霉味
HP:0410022: Vaginal fish odor / 阴道鱼腥味
HP:0410023: Abnormal distribution of cell junction proteins in buccal mucosal cells / 口腔黏膜细胞中细胞连接蛋白的异常分布
HP:0410026: Abnormal periodontium morphology / 牙周组织形态异常
HP:0410027: Alveolar bone loss around teeth / 牙周的牙槽骨萎缩
HP:0410028: Recurrent oral herpes / 复发性口腔疱疹
HP:0410030: Cleft lip / 唇裂
HP:0410031: Submucous cleft of soft and hard palate / 黏膜下腭裂
HP:0410033: Unilateral alveolar cleft of maxilla / 单侧牙槽嵴裂。
HP:0410034: Bilateral alveolar cleft of maxilla / 双侧上颌骨牙槽裂
HP:0410035: Abnormal T cell activation / T细胞活化异常
HP:0410042: Abnormal liver morphology / 肝脏形态异常
HP:0410043: Abnormal neural tube morphology / 神经管形态异常
HP:0410049: Abnormal radial ray morphology / 桡骨线形态异常
HP:0410050: Decreased level of 1,5 anhydroglucitol in serum / 血清1,5脱水葡萄糖醇水平降低
HP:0410051: Increased level of 3-hydroxy-3-methylglutaric acid in urine / 尿液中3-羟-3-甲基戊二酸水平增高
HP:0410052: Increased level of allantoin in serum / 血清尿囊素水平增高
HP:0410053: Elevated circulating gamma-aminobutyric acid concentration / 循环γ-氨基丁酸水平升高
HP:0410054: Decreased circulating GABA concentration / 循环GABA水平降低
HP:0410055: Decreased level of erythritol in urine / 尿液赤藓糖醇水平降低
HP:0410056: Decreased level of erythritol in CSF / 脑脊液赤藓糖醇水平降低
HP:0410057: Increased level of D-threitol in plasma / 血浆D-苏糖醇水平增高
HP:0410058: Increased level of D-threitol in CSF / 脑脊液D-苏糖醇水平增高
HP:0410059: Increased level of D-threitol in urine / 尿液D-苏糖醇水平增高
HP:0410060: Decreased level of D-mannose in urine / 尿液D-甘露糖水平降低
HP:0410061: Increased level of galactitol in plasma / 血浆半乳糖醇水平增高
HP:0410062: Increased level of galactitol in urine / 尿液半乳糖醇水平增高
HP:0410063: Increased level of galactonate in red blood cells / 红细胞半乳糖水平增高
HP:0410064: Increased level of galactitol in red blood cells / 红细胞半乳糖醇水平增高
HP:0410065: Increased level of hippuric acid in blood / 血液马尿酸水平增高
HP:0410066: Increased level of hippuric acid in urine / 尿液马尿酸水平增高
HP:0410067: Increased level of L-fucose in urine / 尿液L-岩藻糖水平增高
HP:0410068: Increased level of L-glutamic acid in blood / 血液L-谷氨酸水平增高
HP:0410069: Increased level of propylene glycol in blood / 血液中丙二酸浓度增高
HP:0410070: Increased level of ribitol in urine / 尿液核糖醇水平增高
HP:0410071: Increased level of ribitol in CSF / 脑脊液核糖醇水平增高
HP:0410072: Increased level of ribose in urine / 尿液核糖水平增高
HP:0410073: Increased level of ribose in CSF / 脑脊液核糖水平增高
HP:0410074: Increased level of xylitol in urine / 尿液木糖醇水平增高
HP:0410075: Increased level of xylitol in CSF / 脑脊液木糖醇水平增高
HP:0410132: Increased level of L-pyroglutamic acid in urine / 尿液L-焦谷氨酸水平增高
HP:0410133: Chronic idiopathic urticaria / 慢性特发性荨麻疹
HP:0410134: Physical urticaria / 物理性荨麻疹
HP:0410135: Cold urticaria / 寒性荨麻疹
HP:0410136: Aquagenic urticaria / 水源性荨麻疹
HP:0410137: Solar urticaria / 日光性荨麻疹
HP:0410138: Vibratory urticaria / 振动性荨麻疹
HP:0410139: Exercise induced anaphylaxis / 运动性过敏反应
HP:0410144: Abnormal biotinidase level / 生物素酶水平异常
HP:0410145: Decreased biotinidase level / 生物素酶水平降低
HP:0410146: Increased biotinidase level / 生物素酶水平升高
HP:0410147: Eosinophilic infiltration in the stomach mucosa / 胃粘膜嗜酸性粒细胞浸润
HP:0410148: Idiopathic anaphylaxis / 特发性过敏反应
HP:0410149: Drug-induced anaphylaxis / 药物引起的过敏反应
HP:0410151: Eosinophilic infiltration of the esophagus / 食道嗜酸性粒细胞浸润
HP:0410152: Eosinophilic microabscess formation in the esophagus / 食道嗜酸性微脓肿形成
HP:0410153: Increased level of methylsuccinic acid in urine / 尿液甲基琥珀酸升高
HP:0410154: Increased level of myristic acid in serum / 血清肉豆蔻酸升高
HP:0410156: Increased level of N-acetylneuraminic acid in urine / 尿液N-乙酰神经氨酸升高
HP:0410157: Increased level of N-acetylneuraminic acid in fibroblasts / 成纤维细胞中N-乙酰神经氨酸升高
HP:0410166: Defective interstrand cross-link repair / 链间交联修复缺陷
HP:0410167: Abnormal morphology of the chest musculature / 胸部肌肉组织形态异常
HP:0410168: Abnormality of the back musculature / 背部肌肉组织异常
HP:0410169: Abnormal morphology of the shoulder musculature / 肩部肌肉组织形态异常
HP:0410170: Hippocampal atrophy / 海马萎缩
HP:0410171: Increased cotinine level / 可替宁升高
HP:0410172: Blood xenobiotic / 血液异生物
HP:0410173: Increased circulating troponin I concentration / 循环肌钙蛋白I浓度升高
HP:0410174: Increased circulating troponin T concentration / 循环肌钙蛋白T浓度升高
HP:0410175: Hyperketonemia / 高酮血症
HP:0410176: Abnormal glucose-6-phosphate dehydrogenase level / 6-磷酸葡萄糖脱氢酶异常
HP:0410177: Abnormal glucose-6-phosphate dehydrogenase level in blood / 血液6-磷酸葡萄糖脱氢酶异常
HP:0410178: Increased glucose-6-phosphate dehydrogenase level in blood / 血液6-磷酸葡萄糖脱氢酶升高
HP:0410179: Decreased glucose-6-phosphate dehydrogenase level in blood / 血液6-磷酸葡萄糖脱氢酶降低
HP:0410180: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot / 干血斑中6-磷酸葡萄糖脱氢酶异常
HP:0410181: Increased glucose-6-phosphate dehydrogenase level in dried blood spot / 干血斑中6-磷酸葡萄糖脱氢酶升高
HP:0410182: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot / 干血斑中6-磷酸葡萄糖脱氢酶降低
HP:0410183: Abnormal glucose-6-phosphate dehydrogenase level in leukocytes / 白细胞6-磷酸葡萄糖脱氢酶异常
HP:0410184: Abnormal glucose-6-phosphate dehydrogenase level in red blood cells / 红细胞6-磷酸葡萄糖脱氢酶异常
HP:0410185: Abnormal glucose-6-phosphate dehydrogenase level in tissue / 组织中6-磷酸葡萄糖脱氢酶异常
HP:0410186: Increased glucose-6-phosphate dehydrogenase level in tissue / 组织中6-磷酸葡萄糖脱氢酶升高
HP:0410187: Decreased glucose-6-phosphate dehydrogenase level in tissue / 组织中6-磷酸葡萄糖脱氢酶降低
HP:0410188: Decreased glucose-6-phosphate dehydrogenase level in red blood cells / 红细胞6-磷酸葡萄糖脱氢酶降低
HP:0410189: Increased glucose-6-phosphate dehydrogenase level in red blood cells / 红细胞6-磷酸葡萄糖的脱氢酶升高
HP:0410190: Decreased glucose-6-phosphate dehydrogenase level in leukocytes / 白细胞6-磷酸葡萄糖脱氢酶降低
HP:0410191: Increased glucose-6-phosphate dehydrogenase level in leukocytes / 白细胞6-磷酸葡萄糖脱氢酶升高
HP:0410192: Abnormal uridine diphosphate glucose-4-epimerase level / 尿苷二磷酸葡萄糖4位异构酶异常
HP:0410193: Abnormal uridine diphosphate glucose-4-epimerase level in plasma / 血浆尿苷二磷酸葡萄糖4位异构酶异常
HP:0410194: Increased uridine diphosphate glucose-4-epimerase level in plasma / 血浆尿苷二磷酸葡萄糖4位异构酶升高
HP:0410195: Decreased uridine diphosphate glucose-4-epimerase level in plasma / 血浆尿苷二磷酸葡萄糖4位异构酶降低
HP:0410196: Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells / 红细胞尿苷二磷酸葡萄糖4位异构酶异常
HP:0410197: Increased uridine diphosphate glucose-4-epimerase level in red blood cells / 红细胞尿苷二磷酸葡萄糖4位异构酶升高
HP:0410198: Decreased uridine diphosphate glucose-4-epimerase level in red blood cells / 红细胞尿苷二磷酸葡萄糖4位异构酶降低
HP:0410199: Increased CSF urate concentration / 脑脊液中尿酸盐浓度升高
HP:0410200: Positive meconium barbiturate test / 胎粪巴比妥酸盐试验阳性
HP:0410201: Positive hair barbiturate test / 毛发巴比妥酸盐试验阳性
HP:0410202: Positive stool barbiturate test / 粪便巴比妥酸盐试验阳性
HP:0410203: Positive gastric fluid barbiturate test / 胃液巴比妥酸盐试验阳性
HP:0410204: Increased intestinal transit time / 肠道转运时间增加
HP:0410205: Abnormal circulating nicotinurate concentration / 血液烟酸盐异常
HP:0410206: Increased circulating nicotinurate level / 血液烟酸盐升高
HP:0410207: Positive methadone plasma/serum test / 血浆/血清美沙酮试验阳性
HP:0410208: Positive plasma/serum cotinine test / 血浆/血清可替宁试验阳性
HP:0410209: Folate deficiency in CSF / 脑脊液中叶酸缺乏
HP:0410210: Abnormal cord blood measurement / 脐血测量异常
HP:0410211: Abnormal blood gas level in cord blood / 脐血的血气水平异常
HP:0410212: Hyperoxemia in cord blood / 脐血高氧血症
HP:0410213: Hypoxemia in cord blood / 脐血低氧血症
HP:0410214: Hypercapnia in cord blood / 脐血高碳酸血症
HP:0410215: Hypocapnia in cord blood / 脐血低碳酸血症
HP:0410216: Abnormal blood 5-methyltetrahydrofolate level / 血液5-甲基四氢叶酸异常
HP:0410217: Reduced blood 5-methyltetrahydrofolate level / 血液5-甲基四氢叶酸降低
HP:0410218: Hypoplasia of maxilla relative to mandible / 相对于下颌骨上颌骨发育不良
HP:0410219: Hypoplasia of mandible relative to maxilla / 相对于上颌骨下颌骨发育不良
HP:0410220: Increased anti-dairy protein IgE antibody level / 抗乳蛋白IgE抗体升高
HP:0410221: Increased anti-animal protein IgE antibody level / 抗动物蛋白IgE抗体升高
HP:0410222: Increased anti-seafood IgE antibody level / 抗海鲜IgE抗体升高