TaoMedAI/RareMedData huggingface dataset:
HP:0034292: Reduced circulating creatine concentration / 循环肌酸水平降低
HP:0034293: Temporal lobe calcification / 颞叶钙化
HP:0034294: Ductal bile plugs / 胆管胆栓堵塞
HP:0034295: Reduced cerebral white matter volume / 脑白质容积减少
HP:0034296: Elevated urine 3,5,6-trichloro-2-pyridinol level / 3,5,6-三氯-2-吡啶醇水平升高
HP:0034297: Elevated circulating tetracosanoic acid concentration / 循环二十四烷酸水平升高
HP:0034298: Elevated circulating hexacosanoic acid concentration / 循环二十六烷酸水平升高
HP:0034299: Sertoli cell-only phenotype / 纯睾丸支持细胞表型
HP:0034300: Decreased acid sphingomyelinase activity / 酸性鞘磷脂酶活性降低
HP:0034301: Congenital pouch colon / 先天性袋状结肠
HP:0034302: Megalopapilla / 巨大视乳头
HP:0034303: Notched T wave / T波切迹
HP:0034304: Epsilon wave / Epsilon 波
HP:0034305: 2:1 atrioventricular block / 2∶1的房室传导阻滞
HP:0034306: Ventricular bigeminy / 室性二联律
HP:0034307: Elevated left ventricular end-diastolic diameter / 左心室舒张末期内径升高
HP:0034308: Prolonged P wave / P波延长
HP:0034309: Multiflagellar spermatozoa / 多尾精子
HP:0034310: Post-vaccination yellow fever / 接种疫苗后黄热病
HP:0034311: Hypoplastic optic chiasm / 视交叉发育不全
HP:0034312: Nocturnal hypoxemia / 夜间低氧血症
HP:0034313: Hyperdynamic left ventricular ejection fraction / 高动力左心室射血分数
HP:0034314: Abnormal left ventricular ejection fraction / 左心室射血分数异常
HP:0034315: Chronic cough / 慢性咳嗽
HP:0034316: Thinning of the substantia nigra pars compacta / 致密部黑质变薄
HP:0034317: Unusual viral infection / 异常病毒感染
HP:0034318: Unusual virus reactivation / 异常病毒活化
HP:0034319: CNS vasculitis with reactivation of varicella-zoster virus / 水痘带状疱疹病毒活化的中枢神经系统血管炎
HP:0034320: Muscle fiber intracytoplasmic reducing inclusion bodies / 肌纤维包涵体减少
HP:0034321: Elevated circulating guanidinoacetic acid concentration / 胍基乙酸水平升高
HP:0034322: Reduced galactocerebrosidase activity / 半乳糖脑苷酯酶活性降低
HP:0034323: Reduced circulating growth hormone concentration / 循环生长激素水平降低
HP:0034324: Brachiocephalic artery aneurysm / 头臂动脉瘤
HP:0034325: Common carotid artery aneurysm / 颈总动脉瘤
HP:0034326: Adenomyosis / 子宫腺肌症
HP:0034327: Posterior corneal stroma punctiform multicolored opacities / 角膜后基质点状多色混浊
HP:0034328: Fibro-obliterative bile-duct lesion / 纤维性闭塞性胆管病变
HP:0034329: Dysplastic megalencephaly / 发育不良的巨脑症
HP:0034330: Regional right ventricular hypokinesis / 局部右心室功能减退
HP:0034331: McConnell sign / McConnell征
HP:0034332: Cognitive regression / 认知衰退
HP:0034333: Increased circulating hypoxanthine concentration / 循环次黄嘌呤水平升高
HP:0034335: Inheritance modifier / 遗传修饰
HP:0034336: Splenic infarction / 脾梗死
HP:0034337: Claw hand deformity / 爪形手畸形
HP:0034338: Imprinted / 印记的
HP:0034339: Pseudoautosomal inheritance / 假常染色体遗传
HP:0034340: Pseudoautosomal dominant inheritance / 假常染色体显性遗传
HP:0034341: Pseudoautosomal recessive inheritance / 假常染色体隐性遗传
HP:0034342: Trapezius muscle aplasia / 斜方肌发育不全
HP:0034343: Requires heterozygosity / 杂合子加重
HP:0034344: Female-limited expression / 女性限性表达
HP:0034345: Mendelian inheritance / 孟德尔遗传
HP:0034346: Nesidioblastosis / 胰岛母细胞增生症
HP:0034347: Greater auricular nerve thickening / 耳大神经增厚
HP:0034348: Subpulmonary stenosis / 肺动脉瓣下狭窄
HP:0034349: Supravalvar pulmonary stenosis / 肺动脉瓣上狭窄
HP:0034350: Valvular pulmonary stenosis / 肺动脉瓣狭窄
HP:0034351: Neuromyotonia / 神经性肌强直
HP:0034352: Bile duct polyp / 胆管息肉
HP:0034353: Appendicular spasticity / 四肢痉挛
HP:0034354: Trichoschisis / 裂发
HP:0034355: White cerebellum sign / 白小脑征
HP:0034356: Impaired renal tubular reabsorption of low molecular weight protein / 肾小管对低分子量蛋白质的重吸收功能受损
HP:0034357: Impaired renal tubular reabsorption of glucose / 肾小管对葡萄糖的重吸收功能受损
HP:0034358: Impaired renal tubular reabsorption of sodium / 肾小管对钠的重吸收功能受损
HP:0034359: Impaired renal tubular reabsorption of phosphate / 肾小管对磷酸盐的重吸收功能受损
HP:0034360: Action myoclonus / 动作性肌阵挛
HP:0034361: Redundant umbilical skin / 脐部皮肤过多
HP:0034362: Dull foveal reflex / 中央凹反射迟钝
HP:0034363: Corneal pterygium / 角膜翼状胬肉
HP:0034364: Fibrofatty replacement of right ventricular myocardium / 右心室心肌纤维脂肪置换
HP:0034365: Elevated circulating alpha-aminoadipic semialdehyde concentration / 循环α-氨基己二酸半醛水平升高
HP:0034366: Fracture blister / 骨折水泡
HP:0034367: Decreased beta-mannosidase activity / β-甘露糖苷酶活性降低
HP:0034368: Urolithiasis / 尿石症
HP:0034369: Decreased level of coenzyme Q10 in skeletal muscle / 骨骼肌辅酶Q10水平降低
HP:0034370: Abnormal muscle tissue metabolite concentration / 肌肉组织代谢物浓度异常
HP:0034371: Reduced circulating prekallikrein concentration / 循环前激肽释放酶水平降低
HP:0034372: Internal tibial torsion / 胫骨内旋
HP:0034373: External tibial torsion / 胫骨外旋
HP:0034374: Trident acetabulum / 三叉戟髋臼
HP:0034375: Spherophakia / 球形晶状体
HP:0034376: Atrioventricular valve regurgitation / 房室瓣反流
HP:0034377: Single atrioventricular valve regurgitation / 单房室瓣膜反流
HP:0034378: Urethrovesical occlusion / 尿道膀胱闭塞
HP:0034379: Vascular granular osmiophilic material deposition / 血管颗粒状嗜锇样物质沉积
HP:0034380: Juvenile type testicular granulosa cell tumor / 少年型颗粒细胞瘤
HP:0034381: Central nervous system axonal spheroid / 中枢神经系统轴突球样变
HP:0034382: Disease remission / 疾病缓解
HP:0034383: Elevated circulating biliverdin concentration / 循环胆绿素水平升高
HP:0034384: Elevated circulating insulin:C-peptide ratio / 循环胰岛素/C肽比值升高
HP:0034385: Abnormal left ventricular endsystolic diameter / 左室收缩末期内径异常
HP:0034386: Reduced left ventricular endsystolic diameter / 左室收缩末期内径内径减小
HP:0034387: Bacterial encephalitis / 细菌性脑炎
HP:0034388: Hilar lymph node enlargement / 肺门淋巴结肿大
HP:0034389: Pulmonary vein varix / 肺静脉曲张
HP:0034390: Decreased CSF glycine concentration / 脑脊液甘氨酸水平降低
HP:0034391: Elbow contracture / 肘部挛缩
HP:0034392: Joint contracture / 关节挛缩
HP:0034393: Elbow extension contracture / 肘伸挛缩
HP:0034394: Forearm supination contracture / 前臂旋后挛缩
HP:0034395: Forearm pronation contracture / 前臂旋前挛缩
HP:0040004: Abnormality of corneal shape / 角膜形状异常
HP:0040006: Mortality/Aging / 死亡/衰老
HP:0040007: Absent pigmentation of chest / 胸部无色素沉着
HP:0040008: Aplasia of facial bones / 颜面骨不发育
HP:0040009: Hyperparakeratosis / 过度角化不全
HP:0040010: Small posterior fossa / 后颅窝小
HP:0040011: Flat posterior fossa / 扁平后颅窝
HP:0040012: Chromosome breakage / 染色体断裂
HP:0040013: Decreased mitochondrial number / 线粒体数量减少
HP:0040014: Increased mitochondrial number / 线粒体数目增加
HP:0040015: Increased activity of mitochondrial respiratory chain / 线粒体呼吸链活性增高
HP:0040016: Prominent coccyx / 突出的尾骨
HP:0040017: Protruding coccyx / 尾骨突出
HP:0040018: Clinodactyly of hallux / 拇趾弯曲
HP:0040019: Finger clinodactyly / 指弯曲
HP:0040020: Radial deviation of the 5th finger / 小指桡偏
HP:0040022: Clinodactyly of the 2nd finger / 第二指弯曲
HP:0040023: Clinodactyly of the thumb / 拇指弯曲
HP:0040024: Clinodactyly of the 3rd finger / 第三指弯曲
HP:0040025: Clinodactyly of the 4th finger / 第四指弯曲
HP:0040030: Chorioretinal hypopigmentation / 脉络膜视网膜色素沉着减退
HP:0040031: Chorioretinal hyperpigmentation / 脉络膜视网膜色素沉着过多
HP:0040032: Hypoplasia of the upper eyelids / 上眼睑发育不全
HP:0040033: Aplasia/Hypoplasia of the fifth metatarsal bone / 第五跖骨不发育/发育不全
HP:0040034: Abnormality of the second metatarsal bone / 第二跖骨异常
HP:0040035: Abnormality of the fourth metatarsal bone / 第四跖骨异常
HP:0040036: Onychogryposis of fingernail / 指甲弯曲
HP:0040039: Onycholysis of fingernails / 指甲剥离
HP:0040040: Toenail onycholysis / 趾甲松解症
HP:0040042: Aplasia of the eccrine sweat glands / 外泌汗腺不发育
HP:0040043: Hypoplasia of the eccrine sweat glands / 外泌汗腺发育不全
HP:0040044: Hypoplasia of the diaphragm / 横膈膜发育不全
HP:0040045: Abnormal hemidiaphragm morphology / 单侧横膈形态异常
HP:0040046: Abnormal left hemidiaphragm morphology / 左侧横膈形态异常
HP:0040047: Abnormal right hemidiaphragm morphology / 右侧横膈形态异常
HP:0040049: Macular edema / 黄斑水肿
HP:0040050: Sparse upper eyelashes / 上睫稀疏
HP:0040051: Abnormality of upper eyelashes / 上睫异常
HP:0040052: Abnormality of lower eyelashes / 下睫异常
HP:0040053: Long lower eyelashes / 长下睫
HP:0040054: Short upper eyelashes / 短上睫
HP:0040055: Short lower eyelashes / 短下睫
HP:0040056: Absent upper eyelashes / 上睫缺如
HP:0040057: Abnormality of nasal hair / 鼻毛异常
HP:0040059: Calcification of ribs / 肋骨钙化
HP:0040061: Osteosclerosis of the radius / 桡骨骨硬化
HP:0040062: Slender radius / 细长桡骨
HP:0040063: Decreased adipose tissue / 脂肪组织减少
HP:0040064: Abnormality of limbs / 肢体异常
HP:0040068: Abnormality of limb bone / 四肢骨骼异常
HP:0040069: Abnormal lower limb bone morphology / 下肢骨形态异常
HP:0040070: Abnormal upper limb bone morphology / 上肢骨骼形态异常
HP:0040071: Abnormal morphology of ulna / 尺骨形态异常
HP:0040072: Abnormal forearm bone morphology / 前臂骨形态异常
HP:0040075: Hypopituitarism / 垂体功能减退
HP:0040078: Axonal degeneration / 轴索变性
HP:0040079: Irregular dentition / 牙列不规则
HP:0040080: Anteverted ears / 前倾耳
HP:0040081: Abnormal circulating creatine kinase concentration / 血液肌酸激酶水平异常
HP:0040082: Happy demeanor / 快乐举止
HP:0040084: Abnormal circulating renin / 循环肾素水平异常
HP:0040085: Abnormal circulating aldosterone / 循环醛固酮水平异常
HP:0040086: Abnormal prolactin level / 催乳素水平异常
HP:0040087: Abnormal blood folate concentration / 血液叶酸异常
HP:0040088: Abnormal lymphocyte count / 淋巴细胞计数异常
HP:0040089: Abnormal natural killer cell count / 自然杀伤细胞数量异常
HP:0040090: Abnormality of the tympanic membrane / 鼓膜异常
HP:0040091: Asymmetry of the size of ears / 耳朵大小不对称
HP:0040092: Asymmetry of the shape of the ears / 耳朵形状不对称
HP:0040093: Asymmetry of the position of the ears / 耳朵位置不对称
HP:0040095: Neoplasm of the outer ear / 外耳肿瘤
HP:0040096: Neoplasm of the inner ear / 内耳肿瘤
HP:0040097: Neoplasm of the ceruminal gland / 耵聍腺肿瘤
HP:0040098: Basalioma of the outer ear / 外耳基底细胞癌
HP:0040099: Abnormality of the round window / 圆窗异常
HP:0040100: Abnormality of the vestibular window / 前庭窗异常
HP:0040101: Cutaneous atresia of the external auditory canal / 外耳道皮肤闭锁
HP:0040102: Osseous atresia of the external auditory canal / 外耳道骨性闭锁
HP:0040103: Cutaneous stenosis of the external auditory canal / 外耳道皮肤狭窄
HP:0040104: Osseous stenosis of the external auditory canal / 外耳道骨性狭窄
HP:0040106: Morphological abnormality of the lateral semicircular canal / 外骨半规管形态异常
HP:0040107: Morphological abnormality of the posterior semicircular canal / 后骨半规管形态异常
HP:0040108: Morphological abnormality of the anterior semicircular canal / 上半规管形态异常
HP:0040109: Morphological abnormality of the utricle / 椭圆囊形态学异常
HP:0040110: Morphological abnormality of the saccule / 球囊形态学异常
HP:0040112: Abnormal number of tubercles / 结节数量异常
HP:0040113: Old-aged sensorineural hearing impairment / 老年感音神经性听力障碍
HP:0040114: Absence of the reflex of the tensor tympani muscle / 鼓膜张肌反射缺失
HP:0040115: Abnormal Eustachian tube morphology / 咽鼓管形态异常
HP:0040116: Aplasia of the Eustachian tube / 咽鼓管不发育
HP:0040117: Atresia of the Eustachian tube / 咽鼓管闭锁
HP:0040118: Stenosis of the Eustachian tube / 咽鼓管狭窄
HP:0040119: Unilateral conductive hearing impairment / 单侧传导性听力障碍
HP:0040120: Abnormality of the reflex of the tensor tympani muscle / 鼓膜张肌反射异常
HP:0040121: Abnormality of the acoustic reflex / 听觉反射异常
HP:0040122: Impairment of the the acoustic reflex / 听觉反射障碍
HP:0040123: Impairment of the reflex of the tensor tympani muscle / 鼓膜张肌反射障碍
HP:0040126: Abnormal vitamin B12 level / 血清钴胺素异常
HP:0040127: Abnormal sweat homeostasis / 汗液稳态异常
HP:0040128: Abnormal sweat electrolytes / 汗液电解质异常
HP:0040129: Abnormal nerve conduction velocity / 神经传导速度异常
HP:0040130: Abnormal serum iron concentration / 血清铁异常
HP:0040131: Abnormal motor nerve conduction velocity / 运动神经传导速度异常
HP:0040132: Abnormal sensory nerve conduction velocity / 感觉神经传导速度异常
HP:0040133: Abnormal circulating ferritin concentration / 血清铁蛋白异常
HP:0040134: Abnormal hepatic iron concentration / 肝脏铁浓度异常
HP:0040135: Abnormal transferrin saturation / 运铁蛋白饱和度异常
HP:0040137: Comedonal acne / 粉刺性痤疮
HP:0040138: Mucinous histiocytosis / 黏液性组织细胞增多症
HP:0040139: Lipogranulomatosis / 脂肪肉芽肿病
HP:0040140: Degeneration of the striatum / 纹状体退行性变
HP:0040141: Tardive dyskinesia / 迟发性运动障碍
HP:0040142: Reduced 5-oxoprolinase level / 5-羟脯氨酸酶缺乏症
HP:0040143: Dystopic os odontoideum / 齿突异位
HP:0040144: L-2-hydroxyglutaric aciduria / L-2-羟基戊二酸尿症
HP:0040145: Dicarboxylic acidemia / 二羧酸血症
HP:0040146: D-2-hydroxyglutaric acidemia / D-2-羟基戊二酸血症
HP:0040147: L-2-hydroxyglutaric acidemia / L-2-羟基戊二酸血症
HP:0040148: Cortical myoclonus / 皮质性肌阵挛
HP:0040149: Woolly scalp hair / 羊毛状发
HP:0040150: Epiblepharon of upper lid / 上眼睑赘皮
HP:0040151: Epiblepharon of lower lid / 下眼睑赘皮
HP:0040154: Acne inversa / 化脓性汗腺炎
HP:0040155: Elevated urinary 3-hydroxybutyric acid / 尿3-羟基丁酸水平升高
HP:0040156: Elevated urinary carboxylic acid / 尿羧酸水平升高
HP:0040157: Abnormal intermamillary distance / 乳头间距异常
HP:0040158: Short intermamillary distance / 乳头间距短
HP:0040159: Abnormal spaced incisors / 切牙间隙异常
HP:0040160: Generalized osteoporosis / 全身性骨质疏松症
HP:0040161: Localized osteoporosis / 局部骨质疏松
HP:0040162: Orthokeratosis / 正角化
HP:0040163: Abnormal pelvis bone morphology / 盆骨形态异常
HP:0040164: Lipomas of eyelids / 眼睑脂肪瘤
HP:0040165: Periostitis / 骨膜炎
HP:0040167: Facial papilloma / 面部乳头状瘤
HP:0040169: Loose anagen hair / 生长期毛发松动
HP:0040170: Abnormality of hair growth / 头发生长异常
HP:0040171: Decreased serum testosterone concentration / 血清睾酮水平降低
HP:0040172: Abnormality of occipitofrontalis muscle / 枕额肌异常
HP:0040173: Abnormality of the tongue muscle / 舌肌异常
HP:0040174: Abnormality of extrinsic muscle of tongue / 舌外肌异常
HP:0040175: Platelet-activating factor acetylhydrolase deficiency / 血小板活化因子乙酰水解酶缺乏
HP:0040176: Abnormal circulating phospholipid concentration / 磷脂水平异常
HP:0040177: Abnormal level of platelet-activating factor / 血小板活化因子水平异常
HP:0040178: Increased level of platelet-activating factor / 血小板活化因子水平升高
HP:0040179: Decreased level of platelet-activating factor / 血小板活化因子水平降低
HP:0040181: Chapped lip / 嘴唇皲裂
HP:0040182: Inappropriate sinus tachycardia / 不适当窦性心动过速
HP:0040183: Encopresis / 大便失禁
HP:0040184: Oral bleeding / 口腔出血
HP:0040185: Macrothrombocytopenia / 巨血小板减少症
HP:0040186: Maculopapular exanthema / 斑丘疹样皮疹
HP:0040187: Neonatal sepsis / 新生儿败血症
HP:0040188: Osteochondrosis / 骨软骨炎
HP:0040189: Scaling skin / 皮肤脱屑
HP:0040190: White scaling skin / 白色鳞屑型皮肤
HP:0040191: Rectus femoris muscle atrophy / 股四头肌肌肉萎缩
HP:0040192: APUdoma / APUD瘤
HP:0040194: Increased head circumference / 头围增加
HP:0040195: Decreased head circumference / 头围减小
HP:0040196: Mild microcephaly / 轻度小头畸形
HP:0040197: Encephalomalacia / 脑软化症
HP:0040198: Non-medullary thyroid carcinoma / 甲状腺非髓样癌
HP:0040200: Motor impersistence / 运动保持困难
HP:0040201: Simultanapraxia / 失用症
HP:0040202: Abnormal consumption behavior / 消费行为异常
HP:0040203: Abnormal CSF neopterin concentration / 脑脊液新喋呤水平异常
HP:0040204: Elevated CSF neopterin level / 脑脊液新喋呤水平升高
HP:0040205: Decreased CSF neopterin level / 脑脊液新喋呤水平降低
HP:0040206: Abnormal circulating neopterin concentration / 新喋呤水平异常
HP:0040207: Abnormal CSF biopterin concentration / 脑脊液生物喋呤水平异常
HP:0040208: Elevated CSF biopterin level / 脑脊液生物喋呤水平升高
HP:0040209: Decreased CSF biopterin level / 脑脊液生物喋呤水平降低
HP:0040210: Abnormal circulating biopterin concentration / 生物喋呤水平异常
HP:0040211: Abnormal skin morphology of the palm / 手掌皮肤异常
HP:0040212: Risus sardonicus / 痉笑，苦笑面容
HP:0040213: Hypopnea / 呼吸浅慢
HP:0040214: Abnormal circulating insulin concentration / 循环胰岛素水平异常
HP:0040216: Hypoinsulinemia / 低胰岛素血症
HP:0040217: Elevated hemoglobin A1c / 糖化血红蛋白水平增高
HP:0040218: Reduced natural killer cell count / 自然杀伤细胞数量减少
HP:0040219: Absent natural killer cells / 自然杀伤细胞缺如
HP:0040220: Abnormal size of the dental root / 牙根大小异常
HP:0040221: Hypoplasia of the dental root / 牙根发育不全
HP:0040222: Maternal thrombophilia / 妊娠期高凝状态，妊娠期血栓形成倾向
HP:0040223: Pulmonary hemorrhage / 肺出血
HP:0040224: Abnormality of fibrinolysis / 纤溶异常
HP:0040225: Decrease in high molecular weight von Willebrand factor Multimers / 高分子量血管性血友病因子多聚体减少
HP:0040226: Decreased level of heparin co-factor II / 肝素辅因子II水平减低
HP:0040227: Decreased level of histidine-rich glycoprotein / 富含组氨酸的糖蛋白水平减低
HP:0040228: Decreased level of plasminogen / 纤溶酶原水平下降
HP:0040229: Decreased level of thrombomodulin / 血栓调节素水平减低
HP:0040230: Decreased level of tissue plasminogen activator / 组织纤溶酶原激活物水平减低
HP:0040231: Abnormal onset of bleeding / 异常出血
HP:0040232: Delayed onset bleeding / 延迟性出血
HP:0040233: Factor XIII subunit A deficiency / 凝血因子XIII A亚基缺陷
HP:0040234: Factor XIII subunit B deficiency / 凝血因子XIII B亚基缺陷
HP:0040235: Leukocyte inclusion bodies / 白细胞包涵体
HP:0040236: Hyperfibrinolysis / 纤溶亢进
HP:0040237: Impaired binding of factor VIII to VWF / 凝血因子VIII与VWF结合受损
HP:0040238: Impaired neutrophil chemotaxis / 中性粒细胞趋化功能受损
HP:0040239: Increased plasma vitamin K epoxide after vitamin K supplementation / 补充维生素 K 后血浆维生素 K 环氧化物增加
HP:0040240: Increased ratio of VWF propeptide to VWF antigen / VWF前肽与VWF抗原比例增加
HP:0040241: Increased RIPA / 瑞斯托菌素诱导的血小板凝集反应增强
HP:0040242: Muscle hemorrhage / 肌肉出血
HP:0040243: Prolonged euglobulin clot lysis time / 优球蛋白凝块溶解时间延长
HP:0040244: Prolonged Russell's viper venom time / 蝰蛇毒时间延长
HP:0040245: Reduced alpha-2-antiplasmin activity / α2-抗纤溶酶活性减低
HP:0040246: Reduced antithrombin antigen / 抗凝血酶抗原减少
HP:0040247: Reduced euglobulin clot lysis time / 优球蛋白凝块溶解时间减少
HP:0040248: Reduced plasminogen activator inhibitor 1 activity / 纤溶酶原激活物抑制剂1活性降低
HP:0040249: Reduced plasminogen activator inhibitor 1 antigen / 纤溶酶原激活物抑制剂1抗原减少
HP:0040250: Reduced prothrombin antigen / 凝血酶原抗原减少
HP:0040251: Hand dimple / 手酒窝征
HP:0040252: Abnormal size of the clitoris / 阴蒂大小异常
HP:0040253: Increased size of the clitoris / 阴蒂异常增大
HP:0040254: Decreased size of the clitoris / 阴蒂异常缩小
HP:0040255: Aplasia/Hypoplasia of the clitoris / 阴蒂发育不全/发育不良
HP:0040256: Aplastic/Hypoplastic nasopharyngeal adenoids / 鼻咽部腺样体未发育/发育不良
HP:0040257: Abnormal size of nasopharyngeal adenoids / 鼻咽部腺样体大小异常
HP:0040258: Hypoplastic nasopharyngeal adenoids / 鼻咽部腺样体发育不全
HP:0040259: Aplastic nasopharyngeal adenoids / 鼻咽部腺样体未发育
HP:0040260: Decreased size of nasopharyngeal adenoids / 鼻咽部腺样体缩小
HP:0040261: Increased size of nasopharyngeal adenoids / 鼻咽部腺样体肥大
HP:0040262: Glue ear / 胶耳
HP:0040263: Jaw ankylosis / 下颌关节强直
HP:0040264: Jaw pain / 下颌疼痛
HP:0040265: Upper limb muscle hypertrophy / 上肢肌肉肥大
HP:0040266: Proximal upper limb muscle hypertrophy / 上肢近端肌肉肥大
HP:0040267: Distal upper limb muscle hypertrophy / 上肢远端肌肉肥大
HP:0040268: Recurrent infections of the middle ear / 中耳反复性感染
HP:0040269: Blocked Eustachian tube / 咽鼓管堵塞
HP:0040270: Impaired glucose tolerance / 葡萄糖耐量下降
HP:0040272: Hyperintensity of MRI T2 signal of the spinal cord / 脊髓MRI T2呈高信号
HP:0040273: Adenocarcinoma of the intestines / 肠腺癌
HP:0040274: Adenocarcinoma of the small intestine / 小肠腺癌
HP:0040275: Adenocarcinoma of the large intestine / 大肠腺癌
HP:0040276: Adenocarcinoma of the colon / 结肠腺癌
HP:0040277: Neoplasm of the pituitary gland / 脑垂体肿瘤
HP:0040278: Prolactinoma / 泌乳素瘤
HP:0040279: Frequency / 频率
HP:0040280: Obligate / 必需的
HP:0040281: Very frequent / 非常频繁的
HP:0040282: Frequent / 频繁的
HP:0040283: Occasional / 偶尔
HP:0040284: Very rare / 非常罕见的
HP:0040285: Excluded / 排除的
HP:0040286: Abnormal axial muscle morphology / 体中轴肌肉形态异常
HP:0040287: Axial muscle atrophy / 中轴肌萎缩
HP:0040288: Nasogastric tube feeding / 鼻胃管灌食
HP:0040289: Cyclic neutropenia / 周期性中性粒细胞减少症
HP:0040291: Skeletal muscle steatosis / 骨骼肌脂肪变性
HP:0040292: Left hemiplegia / 左侧偏瘫
HP:0040293: Right hemiplegia / 右侧偏瘫
HP:0040294: Duplicated tongue / 复舌
HP:0040295: Duplication of the upper lip / 双上唇
HP:0040296: Abnormal location of the eyebrow / 眉毛位置异常
HP:0040297: Preauricular cyst / 耳前囊肿
HP:0040298: Hyperplasia of the endometrium / 子宫内膜增生症
HP:0040299: Decreased circulating free fatty acid level / 循环游离脂肪酸水平降低
HP:0040300: Abnormal circulating free fatty acid concentration / 游离脂肪酸水平异常
HP:0040301: Increased urinary glycerol / 尿液甘油增高
HP:0040302: Hyperglycerolemia / 高甘油血症
HP:0040303: Decreased serum iron / 血清铁下降
HP:0040304: Duplication of the sella turcica / 蝶鞍重复
HP:0040305: Increased male libido / 男性性欲亢进
HP:0040306: Decreased male libido / 男性性欲低下
HP:0040307: Male sexual dysfunction / 男性性功能障碍
HP:0040308: Male anorgasmia / 男性性快感缺失
HP:0040309: Increased size of the mandible / 下颌骨增大
HP:0040310: Sterile arthritis / 无菌性关节炎
HP:0040311: Symmetric polyarthritis / 对称性多发关节炎
HP:0040312: Temporomandibular arthritis / 颞颌关节炎
HP:0040313: Oligoarthritis / 寡关节炎
HP:0040314: Blind vagina / 盲端阴道
HP:0040315: Tongue edema / 舌头水肿
HP:0040317: Blue urine / 蓝色尿液
HP:0040318: Red urine / 红色尿液
HP:0040319: Dark urine / 深色尿液
HP:0040320: Red-brown urine / 红棕色尿液
HP:0040321: Dark yellow urine / 深黄色尿液
HP:0040322: Purple urine / 紫色尿液
HP:0040323: Erythema of the eyelids / 眼睑红斑
HP:0040324: Heliotrope rash / 向阳性皮疹
HP:0040325: Bull's eye rash / 靶心皮疹
HP:0040326: Hypoplasia of the olfactory bulb / 嗅球发育不全
HP:0040327: Abnormal morphology of the olfactory bulb / 嗅球形态异常
HP:0040328: Focal hyperintensity of cerebral white matter on MRI / MRI脑白质局灶高信号
HP:0040329: Multifocal hyperintensity of cerebral white matter on MRI / 多灶性脑白质高信号的MRI表现
HP:0040330: Confluent hyperintensity of cerebral white matter on MRI / 脑白质融合性高信号的MRI表现
HP:0040331: Focal hypointensity of cerebral white matter on MRI / MRI脑白质局灶低信号
HP:0040332: Multifocal hypointensity of cerebral white matter on MRI / 多灶性脑白质低信号的MRI表现
HP:0040333: Confluent hypointensity of cerebral white matter on MRI / 脑白质融合性低信号的MRI表现
HP:0040334: Purulent rhinitis / 化脓性鼻炎
HP:0041042: Absent neutrophil lactoferrin / 中性粒细胞乳铁蛋白缺乏
HP:0041043: Neutrophil nuclear clefts / 中性粒细胞核裂
HP:0041044: Low neutrophil alkaline phosphatase / 中性粒细胞碱性磷酸酶低
HP:0041045: Increased neutrophil mitochondria / 中性粒细胞线粒体增加
HP:0041046: Increased neutrophil ribosomes / 中性粒细胞核糖体增加
HP:0041047: Bladder outlet obstruction / 膀胱出口梗阻
HP:0041048: Decreased expression of GPI-anchored proteins on the cell surface / 细胞表面GPI锚定蛋白表达降低
HP:0041049: Starch intolerance / 淀粉不耐受
HP:0041050: Renal tubular cyst / 肾小管囊肿
HP:0041051: Ageusia / 味觉缺失症
HP:0041052: Agenesis of putamen / 壳核不发育
HP:0041055: Fractured humerus / 肱骨骨折
HP:0041056: Hot cross bun sign / 十字征
HP:0041057: Transient decreased circulating IgG4 / 血液IgG4一过性降低
HP:0041058: Chronic decreased circulating IgG4 / 血液IgG4持续性降低
HP:0041059: Chronic (near) absent circulating IgG4 / 血液IgG4持续性（接近）缺乏
HP:0041060: Chronic partially decreased circulating IgG4 / 血液IgG4持续性部分降低
HP:0041061: Fractured calcaneus / 跟骨骨折
HP:0041062: Transient decreased circulating IgG2 / 血液IgG2一过性降低
HP:0041063: Chronic decreased cirulating IgG2 / 血液IgG2持续性降低
HP:0041064: Fractured knee / 膝盖骨折
HP:0041065: Chronic (near) absent circulating IgG2 / 血液IgG2持续性（接近）缺乏
HP:0041066: Chronic partially decreased circulating IgG2 / 血液IgG2持续性部分降低
HP:0041067: Transient decreased circulating IgG1 / 血液IgG1一过性降低
HP:0041068: Chronic decreased circulating IgG1 / 血液IgG1持续性降低
HP:0041069: Chronic (near) absent circulating IgG1 / 血液IgG1持续性（接近）缺乏
HP:0041070: Chronic partially decreased circulating IgG1 / 血液IgG1持续性部分降低
HP:0041071: Transient decreased circulating IgG3 / 血液IgG3一过性降低
HP:0041072: Chronic decreased circulating IgG3 / 血液IgG3持续性降低
HP:0041073: Fractured thoracic vertebra / 胸椎骨折
HP:0041074: Chronic (near) absent circulating IgG3 / 血液lgG3持续性（接近）缺乏
HP:0041075: Chronic partially decreased circulating IgG3 / 血液IgG3持续性部分降低
HP:0041076: Abnormal immunoglobulin level in body fluid / 体液免疫球蛋白水平异常
HP:0041077: Increased immunoglobulin level in body fluid / 体液免疫球蛋白水平升高
HP:0041078: Decreased immunoglobulin level in body fluid / 体液免疫球蛋白水平下降
HP:0041079: Decreased body fat percentage / 体脂百分比减少
HP:0041080: Abnormal proportion of exhausted T cells / 耗竭型T细胞比例异常
HP:0041081: Fractured lower leg / 小腿骨折
HP:0041082: Fractured skull / 颅骨骨折
HP:0041083: Fractured phalanx / 指骨骨折
HP:0041084: Compression-fractured thoracic vertebra / 胸椎压缩性骨折
HP:0041085: Compression-fractured vertebra / 椎体压缩性骨折
HP:0041086: Compression-fractured cervical vertebra / 颈椎压缩性骨折
HP:0041087: Compression-fractured lumbar vertebra / 腰椎压缩性骨折
HP:0041088: Avulsion fractured humerus / 肱骨撕脱性骨折
HP:0041089: Avulsion fractured tibia / 胫骨撕脱性骨折
HP:0041091: Avulsion fractured epiphysis of femur / 股骨骨骺撕脱性骨折
HP:0041092: Emotional hypersensitivity / 情绪过度敏感
HP:0041093: Beau's lines / 博氏线
HP:0041094: Complete tracheal ring / 完全性气管环
HP:0041095: Decreased middle cerebral artery pulsatility index / 大脑中动脉搏动指数下降
HP:0041114: Fractured metaphysis of femur / 股骨干骺端骨折
HP:0041115: Fractured right clavicle / 右锁骨骨折
HP:0041116: Fractured left clavicle / 左锁骨骨折
HP:0041117: Fractured lower limb segment / 下肢骨折节段
HP:0041118: Fractured upper limb segment / 上肢骨折节段
HP:0041119: Fractured metacarpus skeleton / 掌骨骨折
HP:0041121: Fractured epiphysis of fifth metacarpal bone / 第五掌骨骨骺骨折
HP:0041143: Fractured tibia / 胫骨骨折
HP:0041144: Fractured clavicle bone / 锁骨骨折
HP:0041145: Fractured acetabular part of hip bone / 髋臼骨折
HP:0041146: Fractured coccyx / 尾骨骨折
HP:0041147: Fractured epiphysis / 骨骺骨折
HP:0041149: Fractured navicular bone of pes / 足舟骨骨折
HP:0041150: Fractured cuboid bone / 骰骨骨折
HP:0041152: Fractured sternoclavicular joint / 胸锁关节骨折
HP:0041153: Fractured ankle / 脚踝骨折
HP:0041154: Fractured elbow joint / 肘关节骨折
HP:0041155: Fractured mandible / 下颌骨骨折