TaoMedAI/RareMedData huggingface dataset:
HP:0012039: Descemet Membrane Folds / 后弹力膜皱襞
HP:0012040: Corneal stromal edema / 角膜基质水肿
HP:0012041: Decreased fertility in males / 男性生育能力下降
HP:0012042: Aspirin-induced asthma / 阿司匹林诱发的哮喘
HP:0012043: Pendular nystagmus / 钟摆样眼球震颤
HP:0012044: Seesaw nystagmus / 跷跷板样眼球震颤
HP:0012045: Retinal flecks / 视网膜斑点
HP:0012046: Areflexia of upper limbs / 上肢反射消失
HP:0012047: Hemeralopia / 昼盲
HP:0012048: Oromandibular dystonia / 口下颌肌张力障碍
HP:0012049: Laryngeal dystonia / 喉肌张力障碍
HP:0012050: Anasarca / 全身水肿
HP:0012051: Reactive hypoglycemia / 反应性低血糖
HP:0012052: Low serum calcitriol / 低血清骨化三醇（1,25-二羟基胆钙化醇）
HP:0012053: Decreased circulating calcifediol concentration / 低血清骨化二醇（25-羟基胆钙化醇）
HP:0012054: Choroidal melanoma / 脉络膜黑色素瘤
HP:0012055: Ciliary body melanoma / 睫状体黑色素瘤
HP:0012056: Cutaneous melanoma / 皮肤黑色素瘤
HP:0012057: Superficial spreading melanoma / 浅表扩散性黑素瘤
HP:0012058: Nodular melanoma / 结节性黑素瘤
HP:0012059: Lentigo maligna melanoma / 恶性雀斑样黑色素瘤
HP:0012060: Acral lentiginous melanoma / 肢端雀斑样黑色素瘤
HP:0012061: Urinary excretion of sialylated oligosaccharides / 唾液酸化寡聚糖的尿排泄
HP:0012062: Bone cyst / 骨囊肿
HP:0012063: Aneurysmal bone cyst / 动脉瘤性骨囊肿
HP:0012064: Unicameral bone cyst / 单房性骨囊肿
HP:0012065: Multiple bony cystic lesions / 多发性骨囊性病变
HP:0012066: Increased urinary disaccharide excretion / 尿液双糖排泄增加
HP:0012067: Glycopeptiduria / 糖肽尿症
HP:0012068: Aspartylglucosaminuria / 天冬氨酰葡萄糖胺尿症
HP:0012069: Keratan sulfate excretion in urine / 尿中排泄硫酸角质素
HP:0012070: Chondroitin sulfate excretion in urine / 尿中排泄硫酸软骨素
HP:0012071: Abnormal circulating acetylcarnitine concentration / 乙酰肉碱代谢异常
HP:0012072: Aciduria / 酸性尿
HP:0012073: Abnormal urinary acylglycine profile / 尿酰基甘氨酸谱异常
HP:0012074: Tonic pupil / 瞳孔强直
HP:0012075: Personality disorder / 人格障碍
HP:0012076: Borderline personality disorder / 边缘性人格障碍
HP:0012077: Histrionic personality disorder / 表演型人格障碍
HP:0012078: Motor conduction block / 运动传导阻滞
HP:0012079: Abnormality of central motor conduction / 中枢运动传导异常
HP:0012080: Cerebellar granular layer atrophy / 小脑颗粒层萎缩
HP:0012081: Enlarged cerebellum / 小脑增大
HP:0012082: Cerebellar Purkinje layer atrophy / 小脑浦肯野细胞层萎缩
HP:0012083: Ubiquitin-positive cerebral inclusion bodies / 泛素阳性的大脑包涵体
HP:0012084: Abnormality of skeletal muscle fiber size / 骨骼肌纤维的大小异常
HP:0012085: Pyuria / 脓尿
HP:0012086: Abnormal urinary color / 尿液颜色异常
HP:0012087: Abnormal mitochondrial shape / 线粒体形状异常
HP:0012088: Abnormal urinary odor / 尿味异常
HP:0012089: Arteritis / 动脉炎
HP:0012090: Abnormal pancreas morphology / 胰腺形态异常
HP:0012091: Abnormality of pancreas physiology / 胰腺生理功能异常
HP:0012092: Abnormality of exocrine pancreas physiology / 胰腺外分泌生理功能异常
HP:0012093: Abnormality of endocrine pancreas physiology / 胰腺内分泌生理功能异常
HP:0012094: Abnormal pancreas size / 胰腺大小异常
HP:0012095: Multiple joint dislocation / 多关节脱位
HP:0012096: Intracranial epidermoid cyst / 颅内表皮样囊肿
HP:0012097: Intracranial dermoid cyst / 颅内皮样囊肿
HP:0012098: Edema of the dorsum of feet / 足背水肿
HP:0012099: Abnormality of circulating catecholamine level / 血儿茶酚胺水平异常
HP:0012100: Abnormal circulating creatinine concentration / 循环系统肌酐水平异常
HP:0012101: Decreased serum creatinine / 血清肌酐降低
HP:0012102: Abnormal mitochondrial number / 线粒体数目异常
HP:0012103: Abnormality of the mitochondrion / 线粒体异常
HP:0012104: Parietal cortical atrophy / 顶叶皮质萎缩
HP:0012105: Occipital cortical atrophy / 枕叶皮质萎缩
HP:0012106: Rhizomelic leg shortening / 肢根型腿缩短
HP:0012107: Increased fibular diameter / 腓骨直径增加
HP:0012108: Open angle glaucoma / 开角型青光眼
HP:0012109: Angle closure glaucoma / 闭角型青光眼
HP:0012110: Hypoplasia of the pons / 脑桥发育不良
HP:0012111: Abnormality of circulating glucocorticoid level / 血糖皮质激素水平异常
HP:0012112: Abnormal circulating corticosterone level / 血液皮质酮水平异常
HP:0012113: Abnormal circulating creatine concentration / 肌酸代谢异常
HP:0012114: Endometrial carcinoma / 子宫内膜癌
HP:0012115: Hepatitis / 肝炎
HP:0012116: Abnormal circulating albumin concentration / 血清白蛋白水平异常
HP:0012117: Hyperalbuminemia / 高白蛋白血症
HP:0012118: Laryngeal carcinoma / 喉癌
HP:0012119: Methemoglobinemia / 高铁血红蛋白血症
HP:0012120: Methylmalonic aciduria / 甲基丙二酸尿症
HP:0012121: Panuveitis / 全葡萄膜炎
HP:0012122: Anterior uveitis / 前葡萄膜炎
HP:0012123: Posterior uveitis / 后葡萄膜炎
HP:0012124: Intermediate uveitis / 中间葡萄膜炎
HP:0012125: Prostate cancer / 前列腺癌
HP:0012126: Stomach cancer / 胃癌
HP:0012127: Uraciluria / 尿嘧啶尿症
HP:0012128: Basal ganglia necrosis / 基底节坏死
HP:0012129: Abnormality of bone marrow stromal cells / 骨髓基质细胞异常
HP:0012130: Abnormal erythroid lineage cell morphology / 红系细胞形态异常
HP:0012131: Abnormal number of erythroid precursors / 红系前体数量异常
HP:0012132: Erythroid hyperplasia / 红系增生
HP:0012133: Erythroid hypoplasia / 红系发育不良
HP:0012134: Dysplastic erythropoesis / 红细胞生成异常
HP:0012135: Abnormal granulocytopoietic cell morphology / 粒系细胞形态异常
HP:0012136: Dysplastic granulopoesis / 粒细胞生成异常
HP:0012137: Abnormal number of granulocyte precursors / 粒系前体细胞数量异常
HP:0012138: Granulocytic hyperplasia / 粒细胞增生
HP:0012139: Granulocytic hypoplasia / 粒细胞发育不全
HP:0012142: Pancreatic squamous cell carcinoma / 胰腺鳞状细胞癌
HP:0012143: Abnormal megakaryocyte morphology / 巨核细胞形态异常
HP:0012144: Abnormal monocyte morphology / 单核细胞形态异常
HP:0012145: Abnormality of multiple cell lineages in the bone marrow / 骨髓中多系细胞异常
HP:0012146: Abnormality of von Willebrand factor / 血管性血友病因子异常
HP:0012147: Reduced quantity of Von Willebrand factor / 血管性血友病因子数量减少
HP:0012148: Multiple lineage myelodysplasia / 多系骨髓增生异常
HP:0012149: Bilineage myelodysplasia / 双系骨髓增生异常
HP:0012150: Single lineage myelodysplasia / 单系骨髓增生异常
HP:0012151: Hemothorax / 血胸
HP:0012152: Foveoschisis / 黄斑劈裂
HP:0012153: Hypotriglyceridemia / 低甘油三酯血症
HP:0012154: Anhedonia / 快感缺乏
HP:0012155: Decreased corneal sensation / 角膜感觉减退
HP:0012156: Hemophagocytosis / 噬血细胞作用
HP:0012157: Subcortical cerebral atrophy / 皮层下脑萎缩
HP:0012158: Carotid artery dissection / 颈动脉夹层
HP:0012159: Internal carotid artery dissection / 颈内动脉夹层
HP:0012160: Intracranial internal carotid artery dissection / 颅内颈内动脉夹层
HP:0012161: External carotid artery dissection / 颈外动脉夹层
HP:0012162: Common carotid artery dissection / 颈总动脉夹层
HP:0012163: Carotid artery dilatation / 颈动脉扩张
HP:0012164: Asterixis / 扑翼样震颤
HP:0012165: Oligodactyly / 少指（趾）畸形
HP:0012166: Skin-picking / 皮肤剔除
HP:0012167: Hair-pulling / 拔毛癖
HP:0012168: Head-banging / 撞头
HP:0012169: Self-biting / 自咬
HP:0012170: Nail-biting / 咬指甲
HP:0012171: Stereotypical hand wringing / 刻板性手部扭动
HP:0012172: Stereotypical body rocking / 刻板性身体摇摆
HP:0012173: Orthostatic tachycardia / 体位性心动过速
HP:0012174: Glioblastoma multiforme / 多形性胶质母细胞瘤
HP:0012175: Resistance to activated protein C / 活化蛋白C抵抗
HP:0012176: Abnormal natural killer cell morphology / 自然杀伤细胞形态异常
HP:0012177: Abnormal natural killer cell physiology / 自然杀伤细胞生理功能异常
HP:0012178: Reduced natural killer cell activity / 自然杀伤细胞活性降低
HP:0012179: Craniofacial dystonia / 头面部肌张力障碍
HP:0012180: Cystic medial necrosis / 囊性中层坏死
HP:0012181: Entrapment neuropathy / 压迫性神经病
HP:0012182: Oropharyngeal squamous cell carcinoma / 口咽部鳞状细胞癌
HP:0012183: Hyperplastic colonic polyposis / 增生性结肠息肉病
HP:0012184: Increased HDL cholesterol concentration / 高α脂蛋白血症
HP:0012185: Constrictive median neuropathy / 压迫性正中神经病变
HP:0012186: Entrapment neuropathy of the ulnar nerve at elbow / 肘部尺神经压迫性神经病变
HP:0012187: Increased erythrocyte protoporphyrin concentration / 红细胞原卟啉浓度增高
HP:0012188: Hyperemesis gravidarum / 妊娠剧吐
HP:0012189: Hodgkin lymphoma / 霍奇金淋巴瘤
HP:0012190: T-cell lymphoma / T细胞淋巴瘤
HP:0012191: B-cell lymphoma / B细胞淋巴瘤
HP:0012192: Cutaneous T-cell lymphoma / 皮肤T细胞淋巴瘤
HP:0012193: Anaplastic large-cell lymphoma / 间变性大细胞淋巴瘤
HP:0012194: Episodic hemiplegia / 偏瘫发作
HP:0012195: Irregular respiration / 呼吸节律不齐
HP:0012196: Cheyne-Stokes respiration / 潮式呼吸
HP:0012197: Insulinoma / 胰岛素瘤
HP:0012198: Juvenile colonic polyposis / 幼年性结肠息肉病
HP:0012199: Cluster headache / 丛集性头痛
HP:0012200: Abnormality of prothrombin / 凝血酶原异常
HP:0012202: Increased serum bile acid concentration / 血清胆汁酸浓度增高
HP:0012203: Onychomycosis / 甲癣
HP:0012204: Recurrent vulvovaginal candidiasis / 复发性外阴阴道念珠菌病
HP:0012205: Globozoospermia / 圆头精子症
HP:0012206: Abnormal sperm motility / 精子运动异常
HP:0012207: Reduced sperm motility / 精子活力降低
HP:0012208: Immotile sperm / 不动精子症
HP:0012209: Juvenile myelomonocytic leukemia / 青少年型粒单核细胞白血病
HP:0012210: Abnormal renal morphology / 肾形态异常
HP:0012211: Abnormal renal physiology / 肾脏生理异常
HP:0012212: Abnormal glomerular filtration rate / 肾小球滤过率异常
HP:0012213: Decreased glomerular filtration rate / 肾小球滤过率下降
HP:0012214: Increased glomerular filtration rate / 肾小球滤过率增加
HP:0012215: Testicular microlithiasis / 睾丸微小结石症
HP:0012216: Entrapment neuropathy of suprascapular nerve / 肩胛上神经嵌压性神经病
HP:0012217: Increased urinary porphobilinogen / 尿液胆色素原增高
HP:0012218: Alveolar soft part sarcoma / 腺泡状软组织肉瘤
HP:0012219: Erythema nodosum / 结节性红斑
HP:0012220: Non-caseating epithelioid cell granulomatosis / 非干酪性上皮样细胞肉芽肿
HP:0012221: Pretibial blistering / 胫前起疱
HP:0012222: Arachnoid hemangiomatosis / 蛛网膜血管瘤病
HP:0012223: Splenic rupture / 脾破裂
HP:0012224: Circulating immune complexes / 循环免疫复合物
HP:0012225: Oligodontia of primary teeth / 乳牙减少
HP:0012226: Ovarian teratoma / 卵巢畸胎瘤
HP:0012227: Urethral stricture / 尿道狭窄
HP:0012228: Tension-type headache / 紧张型头痛
HP:0012229: CSF pleocytosis / 脑脊液细胞增多
HP:0012230: Rhegmatogenous retinal detachment / 孔源性视网膜脱离
HP:0012231: Exudative retinal detachment / 渗出性视网膜脱离
HP:0012232: Shortened QT interval / QT间期缩短
HP:0012233: Intramuscular hematoma / 肌内血肿
HP:0012234: Agranulocytosis / 粒细胞缺乏症
HP:0012235: Drug-induced agranulocytosis / 药物性粒细胞缺乏症
HP:0012236: Elevated sweat chloride / 汗液氯化物浓度升高
HP:0012237: Urocanic aciduria / 尿刊酸尿症
HP:0012238: Increased circulating chylomicron concentration / 高乳糜微粒血症
HP:0012239: Atransferrinemia / 转铁蛋白缺乏血症
HP:0012240: Increased intramyocellular lipid droplets / 肌细胞内脂滴增加
HP:0012241: Levator palpebrae superioris atrophy / 上睑提肌萎缩
HP:0012242: Superior rectus atrophy / 眼上直肌萎缩
HP:0012243: Abnormal reproductive system morphology / 生殖系统形态异常
HP:0012244: Abnormal sex determination / 性别决定异常
HP:0012245: Sex reversal / 性反转
HP:0012246: Oculomotor nerve palsy / 动眼神经麻痹
HP:0012247: Specific anosmia / 特定嗅觉丧失
HP:0012248: Prolonged PR interval / PR间期延长
HP:0012249: Abnormal ST segment / ST段异常
HP:0012250: ST segment depression / ST段压低
HP:0012251: ST segment elevation / ST段抬高
HP:0012252: Abnormal respiratory system morphology / 呼吸系统形态学异常
HP:0012253: Abnormal respiratory epithelium morphology / 呼吸道上皮的形态异常
HP:0012254: Ewing sarcoma / 尤文肉瘤
HP:0012255: Dynein arm defect of respiratory motile cilia / 能动纤毛动力蛋白臂缺陷
HP:0012256: Absent outer dynein arms / 外动力蛋白臂缺失
HP:0012257: Absent inner dynein arms / 内在动力蛋白臂缺失
HP:0012258: Abnormal axonemal organization of respiratory motile cilia / 运动纤毛轴丝异常排列
HP:0012259: Absent inner and outer dynein arms / 内、外动力蛋白臂缺如
HP:0012260: Abnormal central microtubular pair morphology of respiratory motile cilia / 运动纤毛的中央成对微管形态异常
HP:0012261: Abnormal respiratory motile cilium physiology / 呼吸运动纤毛生理异常
HP:0012262: Abnormal ciliary motility / 纤毛运动障碍
HP:0012263: Immotile cilia / 不动纤毛
HP:0012264: Absent central microtubular pair morphology of respiratory motile cilia / 运动纤毛细胞中央成对微管形态缺失
HP:0012265: Ciliary dyskinesia / 纤毛运动异常
HP:0012266: T-wave alternans / T波交替
HP:0012267: Absent respiratory ciliary axoneme radial spokes / 纤毛轴丝径向轮辐缺失
HP:0012268: Myxoid liposarcoma / 粘液样脂肪肉瘤
HP:0012269: Abnormal muscle glycogen content / 肌糖原含量异常
HP:0012270: Decreased muscle glycogen content / 肌糖原含量减少
HP:0012271: Episodic upper airway obstruction / 阵发性上气道阻塞
HP:0012272: J wave / J波
HP:0012273: Increased carotid artery intimal medial thickness / 颈动脉内膜及中膜增厚
HP:0012274: Autosomal dominant inheritance with paternal imprinting / 父源印记基因常染色体显性遗传
HP:0012275: Autosomal dominant inheritance with maternal imprinting / 母源印记基因常染色体显性遗传
HP:0012276: Digital flexor tenosynovitis / 手指屈肌腱鞘炎
HP:0012277: Hypoglycinemia / 低甘氨酸血症
HP:0012278: Abnormal circulating serine concentration / 丝氨酸代谢异常
HP:0012279: Hyposerinemia / 低丝氨酸血症
HP:0012280: Hepatic amyloidosis / 肝淀粉样变性
HP:0012281: Chylous ascites / 乳糜腹水
HP:0012282: Morbilliform rash / 麻疹样皮疹
HP:0012283: Small distal femoral epiphysis / 股骨远端骨骺小
HP:0012284: Small proximal tibial epiphyses / 胫骨近端骨骺小
HP:0012285: Abnormal hypothalamus physiology / 下丘脑生理异常
HP:0012286: Abnormal hypothalamus morphology / 下丘脑形态异常
HP:0012287: Hypothalamic luteinizing hormone-releasing hormone deficiency / 下丘脑促黄体生成素释放激素缺乏
HP:0012288: Neoplasm of head and neck / 头颈部肿瘤
HP:0012289: Facial neoplasm / 面部肿瘤
HP:0012292: Fusion of gums / 牙龈融合
HP:0012293: Abnormal genital pigmentation / 外阴色素沉着异常
HP:0012294: Abnormal occipital bone morphology / 枕骨形态异常
HP:0012295: Slender middle phalanx of finger / 中节指骨细长
HP:0012296: Slender distal phalanx of finger / 末节指骨细长
HP:0012297: Slender proximal phalanx of finger / 近节指骨细长
HP:0012298: Long middle phalanx of finger / 中节指骨长
HP:0012299: Long distal phalanx of finger / 末节指骨长
HP:0012300: Ureteral agenesis / 输尿管未发育
HP:0012301: Type II transferrin isoform profile / II型转铁蛋白异构体谱
HP:0012302: Herpes simplex encephalitis / 单纯疱疹病毒性脑炎
HP:0012303: Abnormal aortic arch morphology / 主动脉弓形态异常
HP:0012304: Hypoplastic aortic arch / 主动脉弓发育不全
HP:0012305: Coarctation of the descending aortic arch / 降主动脉弓缩窄
HP:0012306: Abnormal rib ossification / 肋骨骨化异常
HP:0012307: Spatulate ribs / 铲状肋骨
HP:0012308: Decreased serum complement C9 / 血清补体C9降低
HP:0012309: Cutaneous amyloidosis / 皮肤淀粉样变
HP:0012310: Abnormal monocyte count / 单核细胞计数异常
HP:0012311: Monocytosis / 单核细胞增多症
HP:0012312: Monocytopenia / 单核细胞减少症
HP:0012313: Heberden's node / Heberden结节
HP:0012314: Bouchard's node / Bouchard结节
HP:0012315: Histiocytoma / 组织细胞瘤
HP:0012316: Fibrous tissue neoplasm / 纤维组织瘤
HP:0012317: Sacroiliac arthritis / 骶髂关节炎
HP:0012318: Occipital neuralgia / 枕神经痛
HP:0012319: Absent pigmentation of the abdomen / 腹部色素缺失
HP:0012320: Absent pigmentation of the limbs / 四肢色素缺失
HP:0012321: D-2-hydroxyglutaric aciduria / D-2-羟基戊二酸尿症
HP:0012322: Perifolliculitis / 毛囊周炎
HP:0012323: Sleep myoclonus / 睡眠肌阵挛
HP:0012324: Myeloid leukemia / 髓系白血病
HP:0012325: Chronic myelomonocytic leukemia / 慢性粒单核细胞白血病
HP:0012326: Abnormal celiac artery morphology / 腹腔动脉形态异常
HP:0012327: Celiac artery compression / 腹腔动脉压迫
HP:0012328: Cementoma / 牙骨质瘤
HP:0012329: Tufted angioma / 丛状血管病
HP:0012330: Pyelonephritis / 肾盂肾炎
HP:0012331: Abnormal autonomic nervous system morphology / 自主神经系统的形态异常
HP:0012332: Abnormal autonomic nervous system physiology / 自主神经系统生理功能异常
HP:0012333: Abnormal sudomotor regulation / 排汗调控异常
HP:0012334: Extrahepatic cholestasis / 肝外胆汁淤积
HP:0012335: Abnormality of folate metabolism / 叶酸代谢异常
HP:0012337: Abnormal homeostasis / 内稳态平衡的失常
HP:0012338: Abnormal energy expenditure / 能量消耗异常
HP:0012339: Increased resting energy expenditure / 静息能量消耗增加
HP:0012340: Decreased resting energy expenditure / 静息能量消耗降低
HP:0012341: Microprolactinoma / 泌乳素微腺瘤
HP:0012342: Macroprolactinoma / 泌乳素大腺瘤
HP:0012343: Decreased circulating ferritin concentration / 血清铁蛋白降低
HP:0012344: Morphea / 局限性硬皮病
HP:0012345: Abnormal glycosylation / 糖基化异常
HP:0012346: Abnormal protein glycosylation / 蛋白质糖基化异常
HP:0012347: Abnormal protein N-linked glycosylation / 蛋白质N-联糖基化异常
HP:0012348: Decreased galactosylation of N-linked protein glycosylation / N-联蛋白糖基的半乳糖基化降低
HP:0012349: Abnormal sialylation of N-linked protein glycosylation / N-联蛋白糖基的唾液酸化异常
HP:0012350: Decreased sialylation of N-linked protein glycosylation / N-联蛋白糖基的唾液酸化降低
HP:0012351: Increased sialylation of N-linked protein glycosylation / N-联蛋白糖基的唾液酸化增高
HP:0012352: Abnormal fucosylation of protein N-linked glycosylation / 蛋白质的N-联糖基的岩藻糖基化异常
HP:0012353: Decreased fucosylation of N-linked protein glycosylation / N-联蛋白糖基的岩藻糖基化降低
HP:0012354: Increased fucosylation of N-linked protein glycosylation / N-联蛋白糖基的岩藻糖基化增高
HP:0012355: Abnormal mannosylation of N-linked protein glycosylation / N-联蛋白糖基的甘露糖基化异常
HP:0012356: Decreased mannosylation of N-linked protein glycosylation / N-联蛋白糖基的甘露糖基化降低
HP:0012357: Increased mannosylation of N-linked protein glycosylation / N-联蛋白糖基的甘露糖基化增高
HP:0012358: Abnormal protein O-linked glycosylation / 蛋白质O-联糖基化异常
HP:0012359: Abnormal fucosylation of O-linked protein glycosylation / O联蛋白糖基的岩藻糖基化异常
HP:0012360: Decreased fucosylation of O-linked protein glycosylation / O-联蛋白糖基的岩藻糖基化降低
HP:0012361: Increased fucosylation of O-linked protein glycosylation / O-联蛋白糖基的岩藻糖基化增高
HP:0012362: Abnormal sialylation of O-linked protein glycosylation / O-联蛋白糖基的唾液酸化异常
HP:0012363: Decreased sialylation of O-linked protein glycosylation / O联蛋白糖基的唾液酸化降低
HP:0012364: Decreased urinary potassium / 尿钾降低
HP:0012365: Hypophosphaturia / 低磷酸盐尿
HP:0012366: Basilar invagination / 颅底凹陷
HP:0012367: Extra fontanelles / 多囟门
HP:0012368: Flat face / 扁平脸
HP:0012370: Prominence of the zygomatic bone / 颧骨突出
HP:0012371: Hyperplasia of midface / 中面部肥大
HP:0012372: Abnormal eye morphology / 眼部形态异常
HP:0012373: Abnormal eye physiology / 眼部生理异常
HP:0012375: Chemosis / 球结膜水肿
HP:0012376: Microphakia / 小晶状体
HP:0012377: Hemianopia / 偏盲
HP:0012378: Fatigue / 疲乏
HP:0012379: Abnormal enzyme/coenzyme activity / 酶/辅酶活性异常
HP:0012380: Reduced carnitine O-palmitoyltransferase level / 肉毒碱棕榈酰转移酶活性降低
HP:0012381: Delayed self-feeding during toddler years / 学步期自我喂饭能力发育落后
HP:0012382: Left-to-right shunt / 左向右分流
HP:0012383: Bidirectional shunt / 双向分流
HP:0012384: Rhinitis / 鼻炎
HP:0012385: Camptodactyly / 指（趾）关节屈曲
HP:0012386: Absent hallux / 拇趾缺失
HP:0012387: Bronchitis / 支气管炎
HP:0012388: Acute bronchitis / 急性支气管炎
HP:0012389: Appendicular hypotonia / 四肢肌张力低下
HP:0012390: Anal fissure / 肛裂
HP:0012391: Hyporeflexia of upper limbs / 上肢反射减弱
HP:0012392: Jaw hyporeflexia / 下颌反射减弱
HP:0012393: Allergy / 过敏
HP:0012394: Iodine contrast allergy / 碘造影过敏
HP:0012395: Seasonal allergy / 季节性过敏
HP:0012396: Biliary dyskinesia / 胆囊运动障碍
HP:0012397: Aortic atherosclerotic lesion / 早发冠状动脉粥样硬化
HP:0012398: Peripheral edema / 周围性水肿
HP:0012399: Pressure ulcer / 褥疮、压疮
HP:0012400: Abnormal aldolase level / 醛缩酶水平异常
HP:0012401: Abnormal urine alpha-ketoglutarate concentration / 尿α-酮戊二酸盐浓度异常
HP:0012402: Increased urine alpha-ketoglutarate concentration / 尿α-酮戊二酸浓度增高
HP:0012403: Decreased urine alpha-ketoglutarate concentration / 尿α-酮戊二酸盐浓度降低
HP:0012404: Abnormal urine citrate concentration / 尿柠檬酸盐浓度异常
HP:0012405: Hypocitraturia / 低枸橼酸尿
HP:0012406: Hypercitraturia / 高枸橼酸尿
HP:0012407: Scissor gait / 剪刀步态
HP:0012408: Medullary nephrocalcinosis / 肾髓质钙化症
HP:0012409: Cortical nephrocalcinosis / 肾皮质钙化
HP:0012410: Pure red cell aplasia / 纯红细胞再生障碍性贫血
HP:0012411: Premature pubarche / 阴毛早现
HP:0012412: Premature adrenarche / 肾上腺功能早现
HP:0012413: Notched primary central incisor / 乳中切牙缺口
HP:0012414: Duodenal atrophy / 十二指肠萎缩
HP:0012415: Abnormal blood gas level / 血气水平异常
HP:0012416: Hypercapnia / 高碳酸血症
HP:0012417: Hypocapnia / 低碳酸血症
HP:0012418: Hypoxemia / 低氧血症
HP:0012419: Hyperoxemia / 高氧血症
HP:0012420: Meconium stained amniotic fluid / 羊水污染、羊水混浊
HP:0012421: Congenital absence of foreskin / 先天性包皮缺如
HP:0012422: Villous hypertrophy of choroid plexus / 脉络丛绒毛状肥大
HP:0012423: Colonic inertia / 结肠无力
HP:0012424: Chorioretinitis / 脉络膜视网膜炎
HP:0012425: Stercoral ulcer / 粪性溃疡
HP:0012426: Optic disc drusen / 视盘玻璃疣
HP:0012427: Increased femoral anteversion / 股骨前倾增大
HP:0012428: Prominent calcaneus / 跟骨突出
HP:0012429: Aplasia/Hypoplasia of the cerebral white matter / 脑白质发育缺陷/发育不全
HP:0012430: Cerebral white matter hypoplasia / 脑白质发育不良
HP:0012431: Episodic fatigue / 情景疲劳
HP:0012432: Chronic fatigue / 慢性疲劳
HP:0012433: Abnormal social behavior / 社会行为异常
HP:0012434: Delayed social development / 社交发育迟缓
HP:0012435: Ventral shortening of foreskin / 腹侧包皮短缩
HP:0012436: Nonocclusive coronary artery atherosclerosis / 非闭塞性冠状动脉硬化
HP:0012437: Abnormal gallbladder morphology / 胆囊形态异常
HP:0012438: Abnormal gallbladder physiology / 胆囊生理功能异常
HP:0012439: Abnormal biliary tract physiology / 胆道生理功能异常
HP:0012440: Abnormal biliary tract morphology / 胆道形态异常
HP:0012441: Sphincter of Oddi dyskinesia / Oddi括约肌运动障碍
HP:0012442: Gallbladder dyskinesia / 胆囊运动障碍
HP:0012443: Abnormality of brain morphology / 脑形态学异常
HP:0012444: Brain atrophy / 脑萎缩
HP:0012446: Decreased CSF 5-methyltetrahydrofolate concentration / 脑脊液5-甲基四氢叶酸降低
HP:0012447: Abnormal myelination / 髓鞘异常
HP:0012448: Delayed myelination / 髓鞘化延迟
HP:0012449: Sacroiliac joint synovitis / 骶髂关节滑膜炎
HP:0012450: Chronic constipation / 慢性便秘
HP:0012451: Acute constipation / 急性便秘
HP:0012452: Restless legs / 不宁腿
HP:0012453: Bilateral wrist flexion contracture / 双侧腕关节弯曲挛缩
HP:0012454: Unilateral wrist flexion contracture / 单侧腕关节屈曲挛缩
HP:0012456: Medial arterial calcification / 动脉中膜钙化
HP:0012457: Medial calcification of medium-sized arteries / 中型动脉内侧钙化
HP:0012458: Medial calcification of small arteries / 小动脉中膜钙化
HP:0012459: Hypnic headache / 睡眠性头痛
HP:0012460: Dysmorphic inferior cerebellar vermis / 小脑蚓部畸形
HP:0012461: Bacteriuria / 菌尿
HP:0012462: Chin myoclonus / 下颌肌阵挛
HP:0012463: Elevated transferrin saturation / 转铁蛋白饱和度升高
HP:0012464: Decreased transferrin saturation / 转铁蛋白饱和度降低
HP:0012465: Elevated hepatic iron concentration / 肝内铁浓度升高
HP:0012466: Chronic respiratory acidosis / 慢性呼吸性酸中毒
HP:0012467: Acute respiratory acidosis / 急性呼吸性酸中毒
HP:0012468: Chronic acidosis / 慢性酸中毒
HP:0012469: Infantile spasms / 婴儿痉挛
HP:0012470: Setting-sun eye phenomenon / 落日眼现象
HP:0012471: Thick vermilion border / 厚红唇缘
HP:0012472: Eclabion / 唇外翻
HP:0012473: Tongue atrophy / 舌萎缩
HP:0012474: Carotid artery occlusion / 颈动脉闭塞
HP:0012475: Decreased circulating level of specific antibody / 特异性抗体水平降低
HP:0012476: Decreased specific pneumococcal antibody level / 特异性肺炎球菌抗体水平降低
HP:0012477: Vocal tremor / 声音震颤
HP:0012478: Temporomandibular joint ankylosis / 颞下颌关节强直
HP:0012479: Temporomandibular joint crepitus / 颞下颌关节弹响
HP:0012480: Abnormal cerebral vein morphology / 脑静脉形态异常
HP:0012481: Cerebral venous angioma / 脑静脉血管瘤
HP:0012482: Frontal venous angioma / 额部静脉血管瘤
HP:0012483: Abnormal alpha granules / α颗粒异常
HP:0012484: Abnormal dense granules / 致密颗粒异常
HP:0012485: Abnormal surface-connected open canalicular system / 表面连接开放管道系统异常
HP:0012486: Myelitis / 脊髓炎
HP:0012487: Cerebellopontine angle arachnoid cyst / 桥小脑角蛛网膜囊肿
HP:0012488: Intraventricular arachnoid cyst / 脑室内蛛网膜囊肿
HP:0012489: Suprasellar arachnoid cyst / 鞍上蛛网膜囊肿
HP:0012490: Panniculitis / 脂膜炎
HP:0012491: Abnormal dense tubular system / 致密管道系统异常
HP:0012492: Cerebral artery stenosis / 脑动脉狭窄
HP:0012493: Middle cerebral artery stenosis / 大脑中动脉狭窄
HP:0012494: Anterior cerebral artery stenosis / 大脑前动脉狭窄
HP:0012495: Posterior cerebral artery stenosis / 大脑后动脉狭窄
HP:0012496: Reduced maximal inspiratory pressure / 最大吸气压降低
HP:0012497: Reduced maximal expiratory pressure / 最大呼气压降低
HP:0012498: Nuchal cord / 脐带绕颈
HP:0012499: Descending aortic dissection / 降主动脉夹层
HP:0012500: Verrucous papule / 疣状丘疹
HP:0012501: Abnormal brainstem white matter morphology / 脑干白质形态异常
HP:0012502: Abnormality of the internal capsule / 内囊异常
HP:0012503: Abnormality of the pituitary gland / 垂体异常
HP:0012504: Abnormal size of pituitary gland / 脑垂体大小异常
HP:0012505: Enlarged pituitary gland / 垂体增大
HP:0012506: Small pituitary gland / 垂体缩小
HP:0012507: Weakness of orbicularis oculi muscle / 眼轮匝肌无力
HP:0012508: Metamorphopsia / 视物变形
HP:0012509: Reduced thyroxin-binding globulin / 甲状腺素结合球蛋白降低
HP:0012510: Extra-axial cerebrospinal fluid accumulation / 轴外脑脊液蓄积
HP:0012511: Temporal optic disc pallor / 颞侧视盘苍白
HP:0012512: Diffuse optic disc pallor / 弥漫性视神经乳头苍白
HP:0012513: Upper limb pain / 上肢疼痛
HP:0012514: Lower limb pain / 下肢疼痛
HP:0012515: Hip flexor weakness / 屈髋无力
HP:0012516: Tetralogy of Fallot with pulmonary atresia / 法洛四联症伴肺动脉闭锁
HP:0012517: Reduced catalase level / 过氧化氢酶活性降低
HP:0012518: Abnormal circle of Willis morphology / Willis环形态异常
HP:0012519: Hypoplastic posterior communicating artery / 后交通动脉发育不全
HP:0012520: Dilation of Virchow-Robin spaces / 血管周围间隙扩大
HP:0012521: Optic nerve aplasia / 视神经发育缺陷
HP:0012522: Spider hemangioma / 蜘蛛痣
HP:0012523: Oral aversion / 口服厌恶
HP:0012524: Abnormal platelet shape / 血小板形状异常
HP:0012525: Abnormal alpha granule distribution / α颗粒分布异常
HP:0012526: Absence of alpha granules / α颗粒缺失
HP:0012527: Abnormal alpha granule content / α颗粒内容物异常
HP:0012528: Abnormal number of alpha granules / α颗粒数量异常
HP:0012529: Abnormal dense granule content / 致密颗粒含量异常
HP:0012530: Abnormal number of dense granules / 致密颗粒数量异常
HP:0012531: Pain / 疼痛
HP:0012532: Chronic pain / 慢性疼痛
HP:0012533: Allodynia / 痛觉过敏
HP:0012534: Dysesthesia / 感觉障碍
HP:0012535: Abnormal synaptic transmission / 突触传递异常
HP:0012536: Maternal anticardiolipin antibody positive / 母体抗心磷脂抗体阳性
HP:0012537: Food intolerance / 食物不耐受
HP:0012538: Gluten intolerance / 麸质不耐受
HP:0012539: Non-Hodgkin lymphoma / 非霍奇金淋巴瘤
HP:0012540: Axillary epidermoid cyst / 腋窝表皮样囊肿
HP:0012541: Cephalohematoma / 胎头血肿
HP:0012542: Onychauxis / 甲肥厚