TaoMedAI/RareMedData huggingface dataset:
HP:0500253: Increased level of gamma-aminobutyric acid in urine / 尿液γ-氨基丁酸水平升高
HP:0500254: Abnormal urine hexanoylglycine concentration / 尿液己酰甘氨酸浓度异常
HP:0500255: Increased level of hexanoylglycine in urine / 尿液己酰甘氨酸水平升高
HP:0500256: Abnormal urine isobutyrylglycine concentration / 尿液异丁酰甘氨酸浓度异常
HP:0500257: Increased urine isobutyrylglycine concentration / 尿液异丁酰甘氨酸浓度升高
HP:0500258: Abnormal carbon dioxide level in cord blood / 脐血二氧化碳含量异常
HP:0500259: Abnormal oxygen level in cord blood / 脐血氧含量异常
HP:0500260: Triggered by head trauma / 头部创伤引发
HP:0500261: Triggered by anesthetics / 麻醉剂引发
HP:0500262: Atrichia / 无毛症
HP:0500263: Abnormal helper T cell proportion / 辅助性T细胞比例异常
HP:0500264: Increased helper T cell proportion / 辅助性T细胞比例增高
HP:0500265: Increased proportion of CD8-positive, alpha-beta TEMRA T cells / CD8阳性的终末效应性α-β T细胞比例增高
HP:0500266: Decreased proportion of CD8-positive, alpha-beta TEMRA T cells / CD8阳性的终末效应性α-β T细胞比例减低
HP:0500267: Abnormal proportion of CD4-positive helper T cells / CD4+辅助性T细胞比例异常
HP:0500269: Abnormal proportion of gamma-delta T cells / γ-δT细胞比例异常
HP:0500270: Increased proportion of gamma-delta T cells / γ-δT细胞比例增高
HP:0500271: Decreased proportion of gamma-delta T cells / γ-δT细胞比例减低
HP:0500272: Abnormal proportion of immature gamma-delta T cells / 未成熟γ-δT细胞比例异常
HP:0500273: Increased proportion of immature gamma-delta T cells / 未成熟γ-δT细胞比例增高
HP:0500274: Decreased proportion of immature gamma-delta T cells / 未成熟γ-δ T细胞比例减低
HP:0550003: Proximal scleroderma / 近端硬皮病
HP:0550004: Verruca plana / 扁平疣
HP:0550005: Bilateral basilar pulmonary fibrosis / 双侧基底部肺纤维化
HP:3000002: Abnormal inner ear epithelium morphology / 内耳上皮细胞形态异常
HP:3000003: Abnormal mandibular ramus morphology / 下颌支形态异常
HP:3000004: Abnormality of frontalis muscle belly / 额肌肌腹异常
HP:3000005: Abnormality of masseter muscle / 咬肌异常
HP:3000006: Abnormality of medial pterygoid muscle / 内侧翼状肌异常
HP:3000007: Abnormality of mentalis muscle / 颏肌异常
HP:3000008: Abnormality of mylohyoid muscle / 下颌舌骨肌异常
HP:3000009: Abnormality of nasalis muscle / 鼻肌异常
HP:3000010: Abnormality of orbicularis oris muscle / 口轮匝肌异常
HP:3000011: Abnormality of palatoglossus muscle / 腭舌肌异常
HP:3000012: Abnormality of palatopharyngeus muscle / 腭咽肌异常
HP:3000013: Abnormal platysma muscle morphology / 颈阔肌形态异常
HP:3000014: Abnormality of procerus muscle / 降眉间肌异常
HP:3000015: Abnormality of risorius muscle / 笑肌异常
HP:3000016: Abnormality of styloglossus muscle / 茎突舌肌异常
HP:3000017: Abnormality of temporalis muscle / 颞肌异常
HP:3000018: Abnormality of zygomaticus major muscle / 颧大肌异常
HP:3000019: Abnormal buccal mucosa morphology / 颊粘膜形态异常
HP:3000020: Abnormality of zygomaticus minor muscle / 颧小肌异常
HP:3000021: Abnormal buccal fat pad morphology / 颊脂垫形态异常
HP:3000022: Abnormality of cartilage of external ear / 外耳软骨异常
HP:3000023: Abnormality of angular artery / 内眦动脉异常
HP:3000024: Abnormal facial artery morphology / 面动脉形态异常
HP:3000025: Abnormality of ciliary ganglion / 睫状神经节异常
HP:3000027: Abnormality of buccinator muscle / 颊肌异常
HP:3000028: Abnormality of depressor anguli oris muscle / 降口角肌异常
HP:3000029: Abnormality of depressor labii inferioris / 降下唇肌异常
HP:3000030: Abnormal morphology of bony orbit of skull / 颅骨眼眶形态异常
HP:3000031: Abnormality of anterior ethmoidal artery / 筛前动脉异常
HP:3000032: Abnormality of central retinal artery / 视网膜中央动脉异常
HP:3000033: Abnormal nasopharyngeal adenoid morphology / 鼻咽部腺样体形态异常
HP:3000034: Abnormality nasal septum cartilage morphology / 鼻中隔软骨形态异常
HP:3000035: Abnormality of cervical plexus / 颈丛异常
HP:3000036: Abnormal head blood vessel morphology / 头部血管形态异常
HP:3000037: Abnormal neck blood vessel morphology / 颈部血管形态异常
HP:3000038: Abnormal cricoid cartilage morphology / 环状软骨形态异常
HP:3000039: Abnormality of dorsal nasal artery / 鼻背动脉异常
HP:3000040: Abnormality of ethmoid sinus / 筛窦异常
HP:3000041: Abnormality of external carotid artery / 颈外动脉异常
HP:3000042: Abnormal jugular vein morphology / 颈静脉形态异常
HP:3000043: Abnormal facial vein morphology / 面静脉形态异常
HP:3000044: Abnormality of frontal process of maxilla / 上颌骨额突异常
HP:3000045: Abnormality of genioglossus muscle / 颏舌肌异常
HP:3000046: Abnormal geniohyoid muscle morphology / 颏舌骨肌形态异常
HP:3000047: Abnormal glossopharyngeal nerve morphology / 舌咽神经形态异常
HP:3000048: Abnormal great auricular nerve morphology / 耳大神经形态异常
HP:3000049: Abnormal greater palatine artery morphology / 腭大动脉形态异常
HP:3000050: Abnormal odontoid tissue morphology / 齿突组织形态异常
HP:3000051: Abnormal hyoglossus muscle morphology / 舌骨舌肌形态异常
HP:3000052: Abnormal hyoid bone morphology / 舌骨形态异常
HP:3000053: Abnormal hypopharynx morphology / 下咽部异常形态
HP:3000054: Abnormal inferior alveolar artery morphology / 下牙槽动脉形态异常
HP:3000055: Abnormality of inferior alveolar nerve / 下牙槽神经异常
HP:3000056: Abnormality of artery of lower lip / 下唇动脉异常
HP:3000057: Abnormality of inferior oblique extraocular muscle / 下斜眼外肌异常
HP:3000058: Abnormality of inferior rectus extraocular muscle / 下直眼外肌异常
HP:3000059: Abnormal inferior thyroid vein morphology / 甲状腺下静脉形态异常
HP:3000060: Abnormal infraorbital artery morphology / 眶下动脉形态异常
HP:3000061: Abnormality of infra-orbital nerve / 眶下神经异常
HP:3000062: Abnormal internal carotid artery morphology / 颈内动脉形态异常
HP:3000063: Abnormality of internal jugular vein / 颈内静脉异常
HP:3000064: Abnormality of intrinsic muscle of tongue / 舌固有肌异常
HP:3000065: Abnormal lacrimal artery morphology / 泪腺动脉形态异常
HP:3000066: Abnormal lacrimal sac morphology / 泪囊形态异常
HP:3000067: Abnormal lateral cricoarytenoid muscle morphology / 环杓侧肌形态异常
HP:3000068: Abnormality of lateral pterygoid muscle / 翼状外侧肌异常
HP:3000069: Abnormality of lateral rectus extra-ocular muscle / 眼外直肌异常
HP:3000070: Abnormality of levator anguli oris / 口角提肌异常
HP:3000071: Abnormality of levator labii superioris / 提上唇肌异常
HP:3000072: Abnormal levator palpebrae superioris morphology / 上睑提肌形态异常
HP:3000073: Abnormality of levator veli palatini muscle / 腭帆提肌异常
HP:3000074: Abnormal lingual artery morphology / 舌动脉形态异常
HP:3000075: Abnormal lingual nerve morphology / 舌神经形态异常
HP:3000076: Abnormality of lingual tonsil / 舌扁桃体异常
HP:3000077: Abnormal mandible condylar process morphology / 下颌骨髁突形态异常
HP:3000078: Abnormal mandible coronoid process morphology / 下颌骨冠状突形态异常
HP:3000079: Abnormal mandibular symphysis morphology / 下颌联合形态异常
HP:4000001: Abnormal cardiac magnetic resonance imaging finding / 心脏核磁共振成像异常
HP:4000003: Elevated myocardial native T2 / 心肌固有T2升高
HP:4000004: Myocardial late gadolinium enhancement / 心肌钆对比剂延迟强化
HP:4000005: Pericardial late gadolinium enhancement / 心包钆对比剂延迟强化
HP:4000006: Elevated myocardial native T1 / 心肌固有T1升高
HP:4000007: Bronchoconstriction / 支气管收缩
HP:4000008: Formation of multiple pronuclei during fertilization / 受精过程中多原核的形成
HP:4000009: Kinesiophobia / 运动恐惧
HP:4000010: Impaired renal tubular reabsorption of bicarbonate / 肾小管重吸收受损（肾小管重吸收碳酸氢盐受损）
HP:4000011: History of congenital HPV infection / 先天性HPV感染史
HP:4000012: Necrotizing ileitis / 坏死性回肠炎
HP:4000013: Anti-desmoglein-1 antibody positivity / 抗桥粒黏蛋白-1抗体阳性
HP:4000014: Anti-desmoglein-3 antibody positivity / 抗桥粒黏蛋白-3抗体阳性
HP:4000015: Anti-envoplakin antibody positivity / 抗包斑蛋白抗体阳性
HP:4000016: Anti-periplakin antibody positivity / 抗周斑蛋白抗体阳性
HP:4000017: Anti-desmoplakin I antibody positivity / 抗桥粒斑蛋白I抗体阳性
HP:4000018: Anti-desmoplakin II antibody positivity / 抗桥粒斑蛋白II抗体阳性
HP:4000019: Anti-BP230 antibody positivity / 抗BP230抗体阳性
HP:4000020: Anti-BP180 antibody positivity / 抗BP180抗体阳性
HP:4000021: Anti-laminin 332 antibody positivity / 抗层粘连蛋白332抗体阳性
HP:4000022: Anti-laminin 6 antibody positivity / 抗层粘连蛋白6抗体阳性
HP:4000023: Anti-laminin gamma1 antibody positivity / 抗层粘连蛋白γ1抗体阳性
HP:4000024: Anti-laminin antibody positivity / 抗层粘连蛋白抗体阳性
HP:4000025: Anti-integrin antibody positivity / 抗整合素抗体阳性
HP:4000026: Anti-transglutaminase 6 antibody / 抗谷氨酰胺转氨酶6抗体
HP:4000027: anti-LAD-1 antibody positivity / 抗LAD-1抗体阳性
HP:4000028: Anti-LABD97 antibody positivity / 抗LABD97抗体阳性
HP:4000029: Antigliadin antibody positivity / 抗醇溶蛋白抗体阳性
HP:4000030: Anti-reticulin antibody positivity / 抗网硬蛋白抗体
HP:4000031: Anti-type VII collagen antibody / 抗VII型胶原抗体
HP:4000032: False perception of self-motion / 本体运动感知异常
HP:4000033: Non-spinning vertigo / 无旋转型眩晕
HP:4000034: Infection-ssociated lymphopenia / 感染相关淋巴细胞减少
HP:4000035: Primary obstructive megaureter / 原发性梗阻性巨输尿管症
HP:4000036: Encysted hydrocele of the cord / 鞘膜包裹性积液
HP:4000037: Congenital hydrocele / 先天性鞘膜积液
HP:4000038: Infantile hydrocele / 婴儿型鞘膜积液
HP:4000039: Reduced proportion of mucosal-associated invariant T cells / 减少黏膜相关恒定 T 细胞比例减低
HP:4000040: Puerpural onset / 围产期发病
HP:4000041: AA amyloidosis / AA淀粉样变
HP:4000042: Fracture type / 骨折类型
HP:4000043: Greenstick fracture / 青枝骨折
HP:4000044: Transverse fracture / 横行骨折
HP:4000045: Spiral fracture / 螺旋骨折
HP:4000046: Oblique fracture / 斜行骨折
HP:4000047: Compression fracture / 压缩骨折
HP:4000048: Comminuted fracture / 粉碎性骨折
HP:4000049: Segmental fracture / 节段性骨折
HP:4000050: Open fracture / 开放性骨折
HP:4000051: Closed fracture / 闭合性骨折
HP:4000052: Avulsion fracture / 撕脱骨折
HP:4000053: Displaced fracture / 移位性骨折
HP:4000054: Exanthem / 皮疹
HP:4000055: Intestinal inflammation / 肠炎
HP:4000056: Abnormal apoptosis / 细胞凋亡异常
HP:4000057: Decreased FasL-mediated apoptosis / FasL介导的凋亡减少
HP:4000058: Glomerular proteinuria / 肾小球性蛋白尿
HP:4000059: Abnormal lung development / 肺发育异常
HP:4000060: Abnormal pulmonary alveolar system development / 肺泡系统发育异常
HP:4000061: Pancreatic alpha-cell hyperplasia / 胰腺α细胞增生
HP:4000062: 3-4 metacarpal synostosis / 第3、4掌骨骨性结合
HP:4000066: Abnormal iliac artery morphology / 髂动脉形态异常
HP:4000067: Iliac artery aneurysm / 髂动脉瘤
HP:4000068: Abnormal interest / 兴趣异常
HP:4000069: Persistent preoccupation with parts of objects / 对部分物品持续专注
HP:4000070: Circumscribed interests / 兴趣狭隘
HP:4000072: Abnormal verbal communicative behavior / 语言交际行为异常
HP:4000073: Pronoun reversal / 代名词反转
HP:4000074: Idiosyncratic language / 怪癖的语言
HP:4000075: Reduced production of facial expressions / 面部表情生成减少
HP:4000076: Hand-leading gestures / 手的引导姿势
HP:4000077: Fixated interest with abnormal focus / 异常聚焦的固定兴趣
HP:4000078: Fixated interest with abnormal intensity / 异常强度的固定兴趣
HP:4000079: Sensory seeking / 感觉寻求
HP:4000080: Lack of social initiations / 社交主动性缺少
HP:4000081: Reduced use of typical gestures / 典型手势使用减少
HP:4000082: Reduced collaborative play / 合作游戏减少
HP:4000083: Absence of interest in peers / 同伴兴趣缺失
HP:4000084: Reduced sharing of interests / 兴趣分享减少
HP:4000085: Reduced object sharing / 物品分享减少
HP:4000087: Abnormal facial expressions / 面部表情异常
HP:4000088: Context-inappropriate facial expressions / 与语境不符的面部表情
HP:4000089: Atypical facial expressions / 不典型的面部表情
HP:4000090: Abnormal communicative gestures / 异常的交流手势
HP:4000092: Poor conversational reciprocity / 会话的相互性差
HP:5000000: Anti-AK5 antibody positivity / 抗AK5抗体阳性
HP:5000001: Anti-AMPAR antibody positivity / 抗AMPAR抗体阳性
HP:5000002: Anti-Amphiphysin antibody / 抗两性蛋白抗体
HP:5000003: Anti-ARHGAP26 antibody / 抗ARHGAP26抗体
HP:5000004: Anti-CARP VIII antibody / 抗CARP VIII抗体
HP:5000005: Anti-CASPR2 / 抗CASPR2
HP:5000006: Anti-CV2/CRMP5 antibody positivity / 抗CV2/CRMP5抗体阳性
HP:5000007: Anti-DPPX antibody / 抗DPPX抗体
HP:5000008: Anti-FGFR3 antibody positivity / 抗FGFR3抗体阳性
HP:5000009: Anti-GABA(A)R antibody / 抗GABA(A)R抗体
HP:5000010: Anti-GABA(B)R antibody / 抗GABA(B)R抗体
HP:5000011: Anti-GAD65 antibody / 抗GAD65抗体
HP:5000012: Anti-Gephyrin antibody / 抗桥尾蛋白抗体
HP:5000013: Anti-GFAP antibody / 抗GFAP抗体
HP:5000014: Anti-GlyR antibody / 抗GlyR抗体
HP:5000015: Anti-Homer-3 antibody / 抗Homer-3抗体
HP:5000016: Anti-Hu antibody positivity / 抗Hu抗体阳性
HP:5000017: Anti-Iglon5 antibody / 抗Iglon5抗体
HP:5000018: Anti-ITPR1 antibody / 抗ITPR1抗体
HP:5000019: Anti-Kelch like protein 11 antibody positivity / 抗KLHL11抗体阳性
HP:5000020: Anti-LGI1 antibody / 抗LGI1抗体
HP:5000021: Anti-Ma antibody positivity / 抗Ma抗体阳性
HP:5000022: Anti-Ma2 antibody positivity / 抗Ma2抗体阳性
HP:5000023: Anti-Ma1 antibody positivity / 抗Ma1抗体阳性
HP:5000024: Anti-mGluR1 antibody / 抗mGluR1抗体
HP:5000025: Anti-mGluR5 antibody / 抗mGluR5抗体
HP:5000026: Anti-neurexin-3alpha antibody positivity / 抗突触蛋白-3α抗体阳性
HP:5000027: Anti-P/Q-type VGCC antibody positivity / 抗P/Q-type VGCC抗体阳性
HP:5000028: Anti-MAP1B antibody / 抗MAP1B抗体
HP:5000029: Anti-PKCgamma antibody / 抗PKCγ抗体
HP:5000030: Anti-Ri antibody / 抗Ri抗体
HP:5000031: Anti-Septin-5 antibody / 抗Septin-5抗体
HP:5000032: Anti-SEZ6L2 antibody / 抗SEZ6L2抗体
HP:5000033: Anti-SOX1 antibody / 抗SOX1抗体
HP:5000034: Anti-Tr/DNER antibody / 抗体Tr/DNER抗体
HP:5000035: Anti-TRIM46 antibody / 抗TRIM46抗体
HP:5000036: Anti-TRIM9/TRIM67 antibody / 抗体TRIM9/TRIM67抗体
HP:5000037: Anti-Yo antibody positivity / 抗Yo抗体阳性
HP:5000038: Anti-titin antibody positivity / 抗titin抗体阳性
HP:5000039: Anti-Zic4 antibody positivity / 抗Zic4抗体阳性
HP:5000042: Anti-Sj/ITPR1 antibody / 抗Sj/ITPR1抗体
HP:5000043: Anti-D2 R antibody / 抗D2 R抗体
HP:5000044: Anti-GluK2 antibody / 抗GluK2抗体
HP:5000046: Anti-Lrp4 antibody positivity / 抗Lrp4抗体阳性
HP:5000047: Anti-ryanodine receptor antibody / 抗兰尼碱受体抗体
HP:5000048: Anti-Kv1.4 antibody / 抗Kv1.4抗体
HP:0034401: Atypical teratoid/rhabdoid tumor / 非典型畸胎瘤样/横纹肌样瘤
HP:0034720: Self-healing squamous epithelioma / 自愈性鳞状上皮瘤