TaoMedAI/RareMedData huggingface dataset:
HP:0010630: Abnormality of metatarsal epiphysis / 跖骨骨骺异常
HP:0010631: Abnormality of the epiphyses of the feet / 足骨骺异常
HP:0010632: Total anosmia / 全面嗅觉丧失
HP:0010633: Partial anosmia / 部分嗅觉丧失
HP:0010634: Total hyposmia / 全面嗅觉减退
HP:0010635: Partial hyposmia / 部分嗅觉减退
HP:0010636: Schizencephaly / 脑裂畸形
HP:0010637: Conjunctival amyloidosis / 结膜淀粉样变性
HP:0010638: Elevated alkaline phosphatase of hepatic origin / 肝源性碱性磷酸酶升高
HP:0010639: Elevated alkaline phosphatase of bone origin / 骨源性碱性磷酸酶升高
HP:0010640: Abnormality of the nasal cavity / 鼻腔异常
HP:0010641: Abnormality of the midnasal cavity / 鼻中腔异常
HP:0010643: Midnasal atresia / 中鼻道闭锁
HP:0010644: Midnasal stenosis / 中鼻道狭窄
HP:0010645: Aplasia of the distal phalanges of the toes / 脚趾的末节趾骨发育不全
HP:0010646: Cervical spine instability / 颈椎不稳
HP:0010647: Abnormal elasticity of skin / 皮肤弹性异常
HP:0010648: Dermal translucency / 半透明状皮肤
HP:0010649: Flat nasal alae / 鼻翼扁平
HP:0010650: Hypoplasia of the premaxilla / 前颌骨发育不良
HP:0010651: Abnormal meningeal morphology / 脑膜形态异常
HP:0010652: Abnormal dura mater morphology / 硬膜形态异常
HP:0010653: Abnormality of the falx cerebri / 大脑镰异常
HP:0010654: Aplasia of the falx cerebri / 大脑镰发育缺陷
HP:0010655: Epiphyseal stippling / 骨骺点状钙化
HP:0010656: Abnormal epiphyseal ossification / 骨骺骨化异常
HP:0010657: Patchy reduction of bone mineral density / 骨密度斑片状降低
HP:0010658: Patchy changes of bone mineral density / 骨密度斑片状改变
HP:0010659: Patchy variation in bone mineral density / 骨密度斑片状变化
HP:0010660: Abnormal hand bone ossification / 手骨骨化异常
HP:0010661: Absence of the third cerebral ventricle / 第三脑室缺如
HP:0010662: Abnormality of the diencephalon / 间脑异常
HP:0010663: Abnormality of thalamus morphology / 丘脑形态异常
HP:0010664: Fusion of the left and right thalami / 左右丘脑融合
HP:0010665: Bilateral coxa valga / 双侧髋外翻
HP:0010666: Hypoplasia of the anterior nasal spine / 前鼻棘发育不良
HP:0010667: Aplasia of the maxilla / 上颌骨发育不全
HP:0010668: Abnormal zygomatic bone morphology / 颧骨形态异常
HP:0010669: Hypoplasia of the zygomatic bone / 颧骨发育不良
HP:0010672: Abnormality of the third metatarsal bone / 第三跖骨异常
HP:0010674: Abnormality of the curvature of the vertebral column / 脊柱曲度异常
HP:0010675: Abnormal foot bone ossification / 足骨骨化异常
HP:0010676: Mechanical ileus / 机械性肠梗阻
HP:0010677: Enuresis nocturna / 遗尿症
HP:0010678: Enuresis diurna / 日间遗尿症
HP:0010679: Elevated tissue non-specific alkaline phosphatase / 组织非特异性碱性磷酸酶升高
HP:0010680: Elevated alkaline phosphatase of renal origin / 肾源性碱性磷酸酶升高
HP:0010681: Elevated intestinal alkaline phosphatase / 肠内碱性磷酸酶升高
HP:0010682: Elevated placental alkaline phosphatase / 胎盘内碱性磷酸酶升高
HP:0010683: Low tissue non-specific alkaline phosphatase / 组织非特异性碱性磷酸酶偏低
HP:0010684: Low alkaline phosphatase of bone origin / 骨源性碱性磷酸酶偏低
HP:0010685: Low alkaline phosphatase of renal origin / 肾源性碱性磷酸酶偏低
HP:0010686: Low alkaline phosphatase of hepatic origin / 肝源碱性磷酸酶偏低
HP:0010687: Low intestinal alkaline phosphatase / 肠内碱性磷酸酶偏低
HP:0010688: Low placental alkaline phosphatase / 胎盘内碱性磷酸酶偏低
HP:0010689: Mirror image polydactyly / 镜像多指（趾）
HP:0010690: Mirror image hand polydactyly / 镜像多指
HP:0010691: Mirror image foot polydactyly / 镜像多趾
HP:0010692: 2-5 finger syndactyly / 第二-五指并指
HP:0010693: Pulverulent cataract / 粉状白内障
HP:0010694: Lamellar pulverulent cataract / 片状粉末状白内障
HP:0010695: Sutural cataract / 缝性白内障
HP:0010696: Polar cataract / 极性白内障
HP:0010697: Anterior pyramidal cataract / 前园锥状白内障
HP:0010698: Nuclear pulverulent cataract / 核性粉尘状白内障
HP:0010699: Triangular nuclear cataract / 三角核性白内障
HP:0010701: Abnormal immunoglobulin level / 免疫球蛋白水平异常
HP:0010702: Increased circulating antibody level / 循环抗体水平升高
HP:0010704: 1-2 finger syndactyly / 第一-二指并指
HP:0010705: 4-5 finger syndactyly / 第四-五指并指
HP:0010706: 1-3 finger syndactyly / 第一-三指并指
HP:0010707: 1-4 finger syndactyly / 第一-四指并指
HP:0010708: 1-5 finger syndactyly / 第一-五指并指
HP:0010709: 2-4 finger syndactyly / 第二-四指并指
HP:0010710: 3-5 finger syndactyly / 第三-五指并指
HP:0010711: 1-2 toe syndactyly / 第一、二脚趾并趾
HP:0010712: 1-4 toe syndactyly / 第一至四脚趾并趾
HP:0010713: 1-5 toe syndactyly / 第一至第五脚趾并趾
HP:0010714: 2-4 toe syndactyly / 第二至第四脚趾并趾
HP:0010715: 2-5 toe syndactyly / 第二至第五脚趾并趾
HP:0010716: 3-5 toe syndactyly / 第三至第五脚趾并趾
HP:0010717: Osseous syndactyly of toes / 趾骨骨性并趾
HP:0010719: Abnormality of hair texture / 发质异常
HP:0010720: Abnormal hair pattern / 毛发分布异常
HP:0010721: Abnormal hair whorl / 毛发异常旋涡式生长
HP:0010722: Asymmetry of the ears / 耳朵不对称
HP:0010723: Cystic lesions of the pinnae / 耳廓囊性病变
HP:0010724: Advanced pneumatization of the mastoid process / 乳突过度气化
HP:0010726: Prominent corneal nerve fibers / 角膜神经纤维突出
HP:0010727: Spontaneous rupture of the globe / 眼球自发破裂
HP:0010728: Aplasia of the retina / 视网膜发育缺陷
HP:0010729: Cherry red spot of the macula / 黄斑樱桃红斑
HP:0010730: Double eyebrow / 双眉
HP:0010731: Extension of eyebrows towards upper eyelid / 眉毛朝上眼睑延伸
HP:0010732: Nodular changes affecting the eyelids / 眼睑的结节样改变
HP:0010733: Naevus flammeus of the eyelid / 眼睑鲜红斑痣
HP:0010734: Fibrous dysplasia of the bones / 骨纤维发育不良
HP:0010735: Polyostotic fibrous dysplasia / 多骨性骨纤维发育不良
HP:0010736: Monostotic fibrous dysplasia / 单骨性骨纤维发育不良
HP:0010739: Osteopoikilosis / 骨斑点症
HP:0010740: Osteopathia striata / 纹状骨病
HP:0010741: Pedal edema / 下肢水肿
HP:0010742: Edema of the upper limbs / 上肢水肿
HP:0010743: Short metatarsal / 短跖骨
HP:0010744: Absent metatarsal bone / 跖骨缺失
HP:0010745: Aplasia of the phalanges of the toes / 趾骨发育不全
HP:0010746: Hypoplasia of the phalanges of the toes / 趾骨发育不良
HP:0010747: Medial flaring of the eyebrow / 眉中部发散扩展
HP:0010748: Ectopic lacrimal punctum / 泪点异位
HP:0010749: Blepharochalasis / 眼皮松弛
HP:0010750: Dermatochalasis / 眼皮松弛
HP:0010751: Dimple chin / 下巴浅凹
HP:0010752: Cleft mandible / 下颌骨裂
HP:0010753: Midline defect of mandible / 下颚骨中线畸形
HP:0010754: Abnormality of the temporomandibular joint / 颞下颌关节异常
HP:0010755: Asymmetry of the maxilla / 上颌骨不对称
HP:0010756: Aplasia/Hypoplasia of the premaxilla / 前颌骨发育不全/发育不良
HP:0010757: Aplasia of the premaxilla / 前颌骨发育不全
HP:0010758: Abnormality of the premaxilla / 前颌骨异常
HP:0010759: Prominence of the premaxilla / 前颌骨突出
HP:0010760: Absent toe / 脚趾缺失
HP:0010761: Broad columella / 宽鼻小柱
HP:0010762: Chordoma / 脊索瘤
HP:0010763: Low insertion of columella / 鼻小柱低插入
HP:0010764: Short eyelashes / 短睫
HP:0010765: Palmar hyperkeratosis / 掌部角化过度
HP:0010766: Ectopic calcification / 异位钙化
HP:0010767: Sacrococcygeal pilonidal abnormality / 骶尾部藏毛异常
HP:0010769: Pilonidal sinus / 藏毛窦
HP:0010770: Pilonidal fistula / 藏毛瘘
HP:0010771: Pilonidal abscess / 藏毛脓肿
HP:0010772: Anomalous pulmonary venous return / 肺静脉回流异常
HP:0010773: Partial anomalous pulmonary venous return / 部分肺静脉回流异常
HP:0010774: Cor triatriatum / 三房心
HP:0010775: Vascular ring / 血管环
HP:0010776: Tracheobronchmegaly / 气管支气管肥大
HP:0010777: Bronchomegaly / 支气管肥大
HP:0010778: Tracheomegaly / 气管肥大
HP:0010779: Large pelvis bone / 大骨盆骨
HP:0010780: Hyperacusis / 听觉过敏
HP:0010781: Skin dimple / 皮肤酒窝征
HP:0010782: Shoulder dimple / 肩酒窝征
HP:0010783: Erythema / 红斑
HP:0010784: Uterine neoplasm / 子宫肿瘤
HP:0010785: Gonadal neoplasm / 性腺肿瘤
HP:0010786: Urinary tract neoplasm / 泌尿系肿瘤
HP:0010787: Genital neoplasm / 生殖器肿瘤
HP:0010788: Testicular neoplasm / 睾丸肿瘤
HP:0010789: Abnormality of the Leydig cells / 睾丸间质细胞异常
HP:0010790: Hyoplasia of the Leydig cells / 睾丸间质细胞发育不全
HP:0010791: Hyperplasia of the Leydig cells / 睾丸间质细胞增生
HP:0010793: Bifid nail / 甲分离
HP:0010794: Impaired visuospatial constructive cognition / 视空间结构认知障碍
HP:0010795: Cerebellar glioma / 小脑胶质瘤
HP:0010796: Brainstem glioma / 脑干胶质瘤
HP:0010797: Hemangioblastoma / 血管母细胞瘤
HP:0010798: Lip freckle / 唇雀斑
HP:0010799: Pinealoma / 松果体瘤
HP:0010800: Absent cupid's bow / 上唇五丘比特弓
HP:0010801: Underdeveloped nasolabial fold / 鼻唇区发育不全
HP:0010802: Perioral hyperpigmentation / 口周色素沉着过度
HP:0010803: Everted upper lip vermilion / 上唇唇红外翻
HP:0010804: Tented upper lip vermilion / 帐篷状上唇
HP:0010805: Upturned corners of mouth / 嘴角上翘
HP:0010806: U-Shaped upper lip vermilion / U型上红唇
HP:0010807: Open bite / 开牙合
HP:0010808: Protruding tongue / 舌头过长
HP:0010809: Broad uvula / 宽悬雍垂
HP:0010810: Long uvula / 长悬雍垂
HP:0010811: Narrow uvula / 悬雍垂狭窄
HP:0010812: Short uvula / 悬雍垂短小
HP:0010813: Abnormal number of hair whorls / 发旋数量异常
HP:0010814: Abnormal position of hair whorl / 发旋位置异常
HP:0010815: Nevus sebaceous / 皮脂腺痣
HP:0010816: Epidermal nevus / 表皮痣
HP:0010817: Linear nevus sebaceous / 线状皮脂腺痣
HP:0010818: Generalized tonic seizure / 全面性强直发作
HP:0010819: Atonic seizure / 失张力癫痫发作
HP:0010820: Focal emotional seizure with crying / 伴哭泣的局灶情绪性发作
HP:0010821: Focal emotional seizure with laughing / 伴大笑的局灶情绪性发作
HP:0010822: Scintillating scotoma / 闪烁的暗点
HP:0010823: Ridged cranial sutures / 脊状颅缝
HP:0010824: Abnormal fifth cranial nerve morphology / 第V颅神经形态异常
HP:0010825: Abnormality of the eleventh cranial nerve / 第十一对颅神经异常
HP:0010826: Abnormality of the twelfth cranial nerve / 第十二对颅神经异常
HP:0010827: Abnormality of the seventh cranial nerve / 第七对颅神经异常
HP:0010828: Hemifacial spasm / 偏侧面肌痉挛
HP:0010829: Impaired temperature sensation / 温度觉障碍
HP:0010830: Impaired tactile sensation / 触觉障碍
HP:0010831: Impaired proprioception / 本体感觉障碍
HP:0010832: Abnormality of pain sensation / 痛觉异常
HP:0010833: Spontaneous pain sensation / 自发性疼痛感
HP:0010834: Trophic changes related to pain / 与疼痛相关的营养改变
HP:0010835: Dissociated sensory loss / 分离性感觉缺失
HP:0010836: Abnormal circulating copper concentration / 铜稳态平衡异常
HP:0010837: Decreased circulating ceruloplasmin concentration / 血清铜蓝蛋白降低
HP:0010838: High nonceruloplasmin-bound serum copper / 高浓度非铜蓝蛋白结合型血清铜离子
HP:0010839: Increased urinary copper concentration / 尿液铜浓度增高
HP:0010841: Multifocal epileptiform discharges / 多灶性痫样放电
HP:0010843: EEG with focal slow activity / 脑电图局灶性慢活动
HP:0010844: EEG with multifocal slow activity / 脑电图，多灶性慢活动
HP:0010845: EEG with generalized slow activity / 脑电图，广泛性慢活动
HP:0010846: EEG with persistent abnormal rhythmic activity / 脑电图，异常的持续性节律活动
HP:0010847: EEG with spike-wave complexes (<2.5 Hz) / 小于2.5赫兹棘慢复合波脑电图
HP:0010848: EEG with spike-wave complexes (2.5-3.5 Hz) / 脑电图，棘慢复合波（2.5-3.5赫兹）
HP:0010849: EEG with spike-wave complexes (>3.5 Hz) / 大于3.5赫兹棘慢复合波脑电图
HP:0010850: EEG with spike-wave complexes / 脑电图，棘慢复合波
HP:0010851: EEG with burst suppression / EEG伴爆发抑制
HP:0010852: EEG with photoparoxysmal response / 脑电图，光阵发性反应
HP:0010853: EEG with periodic lateralized epileptiform discharges / 脑电图，周期性一侧癫痫样放电
HP:0010854: EEG with generalized low amplitude activity / 脑电图，广泛性低波幅活动
HP:0010855: EEG with localized low amplitude activity / 脑电图，局部低波幅活动
HP:0010856: EEG with periodic complexes / 脑电图，周期复合波
HP:0010857: EEG with periodic abnormalities / 脑电图，周期性异常
HP:0010858: EEG with hyperventilation-induced epileptiform discharges / 脑电图，过度换气诱发的癫痫样放电
HP:0010859: Frank breech presentation / 单臀先露
HP:0010860: Complete breech presentation / 完全臀先露
HP:0010861: Incomplete breech presentation / 不完全臀先露
HP:0010862: Delayed fine motor development / 精细动作发育迟缓
HP:0010863: Receptive language delay / 接受性语言发育迟缓
HP:0010864: Intellectual disability, severe / 重度智力障碍
HP:0010865: Oppositional defiant disorder / 对立违抗性障碍
HP:0010866: Abdominal wall defect / 腹壁缺损
HP:0010867: Dyssynergia / 协同失调
HP:0010868: Ocular dyssynergia / 眼协同失调
HP:0010869: Asynergia / 协调不能
HP:0010871: Sensory ataxia / 感觉性共济失调
HP:0010872: T-wave inversion / T波倒置
HP:0010873: Cervical spinal cord atrophy / 颈髓萎缩
HP:0010874: Tendon xanthomatosis / 腱黄瘤病
HP:0010875: Chaddock reflex / Chaddock 反射
HP:0010876: Abnormal circulating protein concentration / 血液蛋白水平异常
HP:0010877: Monocular strabismus / 单眼斜视
HP:0010878: Fetal cystic hygroma / 胎儿囊状水瘤
HP:0010879: Postnatal cystic hygroma / 出生后囊状水瘤
HP:0010880: Increased nuchal translucency / 颈部透明层厚度增加
HP:0010881: Abnormality of the umbilical cord / 脐带异常
HP:0010882: Pulmonary valve atresia / 肺动脉瓣闭锁
HP:0010883: Aortic valve atresia / 主动脉瓣闭锁
HP:0010884: Acromelia / 肢端短缩
HP:0010885: Avascular necrosis / 缺血性坏死
HP:0010886: Osteochondritis dissecans / 剥脱性骨软骨炎
HP:0010888: Morbus Koehler / Koehler病
HP:0010889: Morbus Kienboeck / Kienboeck病
HP:0010890: Morbus Osgood-Schlatter / Osgood-Schlatter病
HP:0010891: Morbus Scheuermann / Scheuermann病
HP:0010892: Abnormal circulating branched chain amino acid concentration / 支链族氨基酸代谢异常
HP:0010893: Abnormal circulating phenylalanine concentration / 苯丙氨酸代谢异常
HP:0010894: Abnormal circulating serine family amino acid concentration / 丝氨酸族氨基酸代谢异常
HP:0010895: Abnormal circulating glycine concentration / 甘氨酸代谢异常
HP:0010896: Hypersarcosinemia / 高肌氨酸血症
HP:0010897: Hypersarcosinuria / 高肌氨酸尿症
HP:0010898: Abnormal circulating sarcosine concentration / 肌氨酸代谢异常
HP:0010899: Abnormal circulating aspartate family amino acid concentration / 天冬氨酸族的氨基酸代谢异常
HP:0010900: Abnormal circulating threonine concentration / 苏氨酸代谢异常
HP:0010901: Abnormal circulating methionine concentration / 甲硫氨酸代谢异常
HP:0010902: Abnormal circulating glutamine family amino acid concentration / 谷氨酰胺族氨基酸代谢异常
HP:0010903: Abnormal circulating glutamine concentration / 谷氨酰胺代谢异常
HP:0010904: Abnormal circulating histidine concentration / 组氨酸族氨基酸代谢异常
HP:0010906: Hyperhistidinemia / 高组氨酸血症
HP:0010907: Abnormal circulating proline concentration / 脯氨酸代谢异常
HP:0010908: Abnormal circulating lysine concentration / 赖氨酸代谢异常
HP:0010909: Abnormal circulating arginine concentration / 精氨酸代谢异常
HP:0010910: Hypervalinemia / 高缬氨酸血症
HP:0010911: Hyperleucinemia / 高亮氨酸血症
HP:0010912: Abnormal circulating isoleucine concentration / 异亮氨酸代谢异常
HP:0010913: Hyperisoleucinemia / 高异亮氨酸血症
HP:0010914: Abnormal circulating valine concentration / 缬氨酸代谢异常
HP:0010915: Abnormal circulating pyruvate family amino acid concentration / 丙酮酸族氨基酸代谢异常
HP:0010916: Abnormal circulating alanine concentration / 丙氨酸代谢异常
HP:0010917: Abnormal circulating tyrosine concentration / 酪氨酸代谢异常
HP:0010918: Abnormal circulating cysteine concentration / 半胱氨酸代谢异常
HP:0010919: Abnormal circulating homocysteine concentration / 同型半胱氨酸代谢异常
HP:0010920: Zonular cataract / 带状白内障
HP:0010921: Coralliform cataract / 珊瑚状白内障
HP:0010922: Membranous cataract / 膜性白内障
HP:0010923: Anterior subcapsular cataract / 前囊下白内障
HP:0010924: Posterior cortical cataract / 后皮质型白内障
HP:0010925: Nuclear punctate cataract / 核性点状白内障
HP:0010926: Aculeiform cataract / 皮刺状白内障
HP:0010927: Abnormal blood inorganic cation concentration / 二价无机阳离子稳态平衡异常
HP:0010929: Abnormal blood cation concentration / 阳离子的稳态平衡异常
HP:0010930: Abnormal blood monovalent inorganic cation concentration / 单价无机阳离子稳态平衡异常
HP:0010931: Abnormal blood sodium concentration / 钠离子稳态平衡异常
HP:0010932: Abnormal circulating nucleobase concentration / 核碱基代谢异常
HP:0010933: Hyperxanthinemia / 黄嘌呤代谢异常
HP:0010934: Xanthinuria / 黄嘌呤尿症
HP:0010935: Abnormality of the upper urinary tract / 上尿路异常
HP:0010936: Abnormality of the lower urinary tract / 下尿路异常
HP:0010937: Abnormal nasal skeleton morphology / 鼻骨形态异常
HP:0010938: Abnormality of the external nose / 外鼻异常
HP:0010939: Abnormal nasal bone morphology / 鼻骨骼形态异常
HP:0010940: Aplasia/Hypoplasia of the nasal bone / 鼻骨发育不全/发育不良
HP:0010941: Aplasia of the nasal bone / 鼻骨未发育
HP:0010942: Echogenic intracardiac focus / 心室强光点
HP:0010943: Echogenic fetal bowel / 胎儿肠管回声增强
HP:0010944: Abnormal renal pelvis morphology / 肾盂形态异常
HP:0010945: Fetal pyelectasis / 胎儿肾盂扩张
HP:0010946: Dilatation of the renal pelvis / 肾盂扩张
HP:0010947: Abnormality of ductus venosus blood flow / 静脉导管血流异常
HP:0010948: Abnormal fetal cardiovascular morphology / 胎儿心血管形态异常
HP:0010949: Abnormality of umbilical vein blood flow / 脐静脉血流异常
HP:0010950: Abnormal fourth ventricle morphology / 第四脑室形态异常
HP:0010951: Abnormal third ventricle morphology / 第三脑室形态异常
HP:0010952: Mild fetal ventriculomegaly / 轻度胎儿脑室扩大
HP:0010953: Noncommunicating hydrocephalus / 非交通性脑积水
HP:0010954: Hypoplastic right heart / 右心发育不全
HP:0010955: Dilatation of the bladder / 膀胱扩张
HP:0010956: Fetal megacystis / 胎儿巨膀胱症
HP:0010957: Congenital posterior urethral valve / 先天性后尿道瓣膜
HP:0010958: Bilateral renal agenesis / 双肾缺如
HP:0010959: Congenital pulmonary airway malformation / 先天性肺气道畸形
HP:0010960: Bronchopulmonary sequestration / 支气管肺隔离症
HP:0010961: Intralobar sequestration / 叶内型肺隔离症
HP:0010962: Extralobar sequestration / 叶外型肺隔离症
HP:0010963: Absence of stomach bubble on fetal sonography / 胎儿超声下胃泡缺如
HP:0010964: Abnormal circulating long-chain fatty-acid concentration / 长链脂肪酸代谢异常
HP:0010965: Abnormal circulating phytanic acid concentration / 植烷酸代谢异常
HP:0010966: Abnormal circulating fatty-acid anion concentration / 脂肪酸阴离子代谢异常
HP:0010967: Abnormal circulating carnitine concentration / 肉碱代谢异常
HP:0010968: Abnormality of liposaccharide metabolism / 脂多糖代谢异常
HP:0010969: Abnormality of glycolipid metabolism / 糖脂代谢异常
HP:0010970: Blood group antigen abnormality / 血型抗原异常
HP:0010971: Absence of Lutheran antigen on erythrocytes / 红细胞Lutheran抗原缺失
HP:0010972: Anemia of inadequate production / 红细胞 生成不足性贫血
HP:0010974: Abnormal myeloid leukocyte morphology / 髓系白细胞形态异常
HP:0010975: Abnormal B cell count / B细胞数量异常
HP:0010976: B lymphocytopenia / B淋巴细胞减少症
HP:0010977: Abnormal phagocytosis / 吞噬作用异常
HP:0010978: Abnormality of immune system physiology / 免疫系统功能异常
HP:0010979: Abnormality of lipoprotein cholesterol concentration / 脂蛋白胆固醇水平的异常
HP:0010980: Hyperlipoproteinemia / 高脂蛋白血症
HP:0010981: Hypolipoproteinemia / 低脂蛋白血症
HP:0010982: Polygenic inheritance / 多基因遗传
HP:0010983: Oligogenic inheritance / 寡基因遗传
HP:0010984: Digenic inheritance / 双基因遗传
HP:0010987: Abnormal cellular immune system morphology / 细胞免疫系统形态异常
HP:0010988: Abnormality of the extrinsic pathway / 外源性凝血异常
HP:0010989: Abnormality of the intrinsic pathway / 内源性凝血异常
HP:0010990: Abnormality of the common coagulation pathway / 共同凝血途径异常
HP:0010991: Abnormal morphology of the abdominal musculature / 腹部肌肉组织形态异常
HP:0010992: Stress urinary incontinence / 应激性尿失禁
HP:0010993: Abnormal cerebral subcortex morphology / 大脑皮质下形态异常
HP:0010994: Abnormal corpus striatum morphology / 纹状体形态异常
HP:0010995: Abnormal circulating dicarboxylic acid concentration / 二羧酸代谢异常
HP:0010996: Abnormal circulating monocarboxylic acid concentration / 循环单羧酸水平异常
HP:0010997: Chromosomal breakage induced by ionizing radiation / 电离辐射诱发的染色体断裂
HP:0010998: Increased susceptibility to spontaneous sister chromatid exchange / 姐妹染色单体自发性交换的易发性增高
HP:0010999: Aplasia of the optic tract / 视束的发育缺陷
HP:0011000: Aplasia/Hypoplasia of the optic tract / 视束发育缺陷/发育不全
HP:0011001: Increased bone mineral density / 骨密度增加
HP:0011002: Osteopetrosis / 骨硬化
HP:0011003: High myopia / 高度近视
HP:0011004: Abnormal systemic arterial morphology / 全身动脉形态异常
HP:0011005: Mixed cirrhosis / 混合性肝硬化
HP:0011006: Abnormal morphology of the musculature of the neck / 颈部肌肉形态异常
HP:0011008: Temporal pattern / 疾病进展的时限性
HP:0011009: Acute / 急性
HP:0011010: Chronic / 慢性
HP:0011011: Subacute / 亚急性
HP:0011012: Abnormal circulating polysaccharide concentration / 多糖代谢异常
HP:0011013: Abnormal circulating carbohydrate concentration / 碳水化合物代谢/体内稳态平衡异常
HP:0011014: Abnormal glucose homeostasis / 葡萄糖内稳态平衡异常
HP:0011015: Abnormal blood glucose concentration / 血糖浓度异常
HP:0011017: Abnormal cellular physiology / 细胞生理异常
HP:0011018: Abnormality of the cell cycle / 细胞周期异常
HP:0011019: Abnormality of chromosome condensation / 染色体凝缩异常
HP:0011020: Abnormality of mucopolysaccharide metabolism / 粘多糖代谢异常
HP:0011021: Abnormality of circulating enzyme level / 循环系统内酶浓度水平异常
HP:0011022: Abnormal circulating unsaturated fatty acid concentration / 不饱和脂肪酸代谢异常
HP:0011023: Abnormal circulating prostaglandin circulation / 前列腺素代谢异常
HP:0011024: Abnormality of the gastrointestinal tract / 胃肠道异常
HP:0011025: Abnormal cardiovascular system physiology / 心血管系统生理异常
HP:0011026: Aplasia/Hypoplasia of the vagina / 阴道发育不全/发育不良
HP:0011027: Abnormal fallopian tube morphology / 输卵管形态异常
HP:0011028: Abnormality of blood circulation / 血液循环异常
HP:0011029: Internal hemorrhage / 内出血
HP:0011030: Abnormal blood transition element cation concentration / 过渡元素阳离子稳态平衡异常
HP:0011031: Abnormality of iron homeostasis / 铁紊乱
HP:0011032: Abnormality of fluid regulation / 体液调节异常
HP:0011033: Impairment of fructose metabolism / 果糖代谢障碍
HP:0011034: Amyloidosis / 淀粉样变
HP:0011035: Abnormal renal cortex morphology / 肾皮质形态异常
HP:0011036: Abnormality of renal excretion / 肾排泄异常
HP:0011037: Decreased urine output / 少尿
HP:0011038: Abnormal renal tubular resorption / 肾小管重吸收异常
HP:0011039: Abnormal helix morphology / 耳轮形态异常
HP:0011040: Abnormal intrahepatic bile duct morphology / 肝内胆管形态异常
HP:0011041: Aplasia/Hypoplasia of the cervical spine / 颈椎发育不全/发育不良
HP:0011042: Abnormal blood potassium concentration / 钾离子稳态平衡异常
HP:0011043: Abnormal circulating adrenocorticotropin concentration / 循环促肾上腺皮质激素水平异常
HP:0011044: Abnormal number of permanent teeth / 恒牙数目异常
HP:0011045: Agenesis of permanent maxillary central incisor / 上颌恒中切牙发育不全
HP:0011046: Agenesis of primary maxillary central incisor / 乳上颌中切牙发育不全
HP:0011047: Agenesis of primary mandibular central incisor / 乳下颌中切牙发育不全
HP:0011048: Agenesis of permanent mandibular central incisor / 下颌恒中切牙发育不全
HP:0011049: Agenesis of primary maxillary lateral incisor / 乳上颌侧切牙发育不全
HP:0011050: Agenesis of permanent maxillary lateral incisor / 恒上颌侧切牙发育不全
HP:0011051: Agenesis of premolar / 前磨牙发育不全
HP:0011052: Agenesis of maxillary premolar / 上颌小臼齿发育不全
HP:0011053: Agenesis of mandibular premolar / 下颌前臼齿（前磨牙）发育不全
HP:0011054: Agenesis of molar / 大臼齿未发育
HP:0011055: Agenesis of permanent molar / 恒大臼齿发育不全
HP:0011056: Agenesis of first permanent molar tooth / 第一恒磨牙发育不全
HP:0011057: Agenesis of second permanent molar / 第二恒磨牙发育不全
HP:0011058: Generalized periodontitis / 泛发性牙周炎
HP:0011059: Localized periodontitis / 局部牙周炎
HP:0011060: Dentinogenesis imperfecta limited to primary teeth / 乳牙牙本质发育不良
HP:0011061: Abnormality of dental structure / 牙齿结构异常
HP:0011062: Misalignment of incisors / 门牙错位
HP:0011063: Abnormal incisor morphology / 门齿形态异常
HP:0011064: Abnormal number of incisors / 切牙数目异常
HP:0011065: Conical incisor / 锥状切牙
HP:0011067: Mesiodens / 正中多生牙
HP:0011068: Odontoma / 牙瘤
HP:0011069: Supernumerary tooth / 多生牙
HP:0011070: Abnormal molar morphology / 大臼齿形态异常
HP:0011071: Abnormality of permanent molar morphology / 恒大臼齿形态异常
HP:0011072: Rootless teeth / 无根牙
HP:0011073: Abnormality of dental color / 牙齿颜色异常
HP:0011074: Localized hypoplasia of dental enamel / 局部牙釉质发育不良
HP:0011075: Green teeth / 绿色牙齿
HP:0011076: Abnormality of premolar / 小臼齿恒牙异常
HP:0011077: Abnormality of molar / 大臼齿异常
HP:0011078: Abnormality of canine / 犬齿异常
HP:0011079: Impacted tooth / 阻生牙
HP:0011080: Abnormal premolar morphology / 小臼齿恒牙形态异常
HP:0011081: Incisor macrodontia / 巨大切牙
HP:0011082: Conical primary incisor / 锥状乳切牙
HP:0011083: Conical maxillary incisor / 锥状上切牙
HP:0011084: Hypocalcification of dental enamel / 牙釉质钙化不全
HP:0011085: Hypomature dental enamel / 牙釉质发育不全
HP:0011086: Dentinogenesis imperfecta of primary and permanent teeth / 乳牙与恒牙牙本质发育不良
HP:0011087: Talon cusp / 副牙尖
HP:0011088: Dens in dente / 齿中齿
HP:0011089: Double tooth / 双齿
HP:0011090: Fused teeth / 融合牙
HP:0011091: Gemination / 双体牙
HP:0011092: Mulberry molar / 桑葚状大臼齿
HP:0011093: Molarization of premolar / 前磨牙磨牙化
HP:0011094: Increased overbite / 过咬合
HP:0011095: Overjet / 横向过咬合
HP:0011096: Peripheral demyelination / 周围性脱髓鞘
HP:0011097: Epileptic spasm / 癫痫性痉挛
HP:0011098: Speech apraxia / 失读症
HP:0011099: Spastic hemiparesis / 痉挛性偏瘫
HP:0011100: Intestinal atresia / 肠闭锁
HP:0011102: Ileal atresia / 回肠闭锁
HP:0011103: Abnormal left ventricular outflow tract morphology / 左室流出道形态异常
HP:0011104: Abnormality of blood volume homeostasis / 血容量稳态异常
HP:0011105: Hypervolemia / 血容量过多
HP:0011106: Hypovolemia / 血容量不足
HP:0011107: Recurrent aphthous stomatitis / 复发性口疮性口炎
HP:0011108: Recurrent sinusitis / 复发性鼻窦炎
HP:0011109: Chronic sinusitis / 慢性鼻窦炎
HP:0011110: Recurrent tonsillitis / 复发性扁桃体炎
HP:0011111: Abnormality of immune serum protein physiology / 血清免疫蛋白功能异常
HP:0011112: Abnormality of serum cytokine level / 血清细胞因子水平异常
HP:0011113: Abnormality of cytokine secretion / 细胞因子分泌异常
HP:0011114: Defective production of NFKB1-dependent cytokines / NFKB1依赖的细胞因子产生缺陷
HP:0011115: Abnormality of chemokine secretion / 趋化因子分泌异常
HP:0011116: Abnormality of interferon secretion / 干扰素分泌异常
HP:0011117: Abnormality of interleukin secretion / 白介素分泌异常
HP:0011118: Abnormality of tumor necrosis factor secretion / 肿瘤坏死因子分泌异常
HP:0011119: Abnormality of the nasal dorsum / 鼻嵴异常
HP:0011120: Concave nasal ridge / 凹鼻嵴
HP:0011121: Abnormality of skin morphology / 皮肤形态异常
HP:0011122: Abnormality of skin physiology / 皮肤生理异常
HP:0011123: Inflammatory abnormality of the skin / 皮肤炎症反应
HP:0011124: Abnormal epidermal morphology / 表皮形态异常
HP:0011125: Abnormality of dermal melanosomes / 真皮黑素小体异常
HP:0011126: Nephroptosis / 肾下垂
HP:0011127: Perioral eczema / 口周湿疹
HP:0011128: Acute esophageal necrosis / 急性食管坏死
HP:0011129: Bilateral fetal pyelectasis / 胎儿双侧肾盂扩张
HP:0011130: Abnormal renal calyx morphology / 肾盏形态异常