TaoMedAI/RareMedData huggingface dataset:
HP:0000001: All / 所有词汇
HP:0000002: Abnormality of body height / 身高异常
HP:0000003: Multicystic kidney dysplasia / 多囊性肾发育不良
HP:0000005: Mode of inheritance / 遗传模式
HP:0000006: Autosomal dominant inheritance / 常染色体显性遗传
HP:0000007: Autosomal recessive inheritance / 常染色体隐性遗传
HP:0000008: Abnormal morphology of female internal genitalia / 女性内生殖器形态异常
HP:0000009: Functional abnormality of the bladder / 膀胱功能异常
HP:0000010: Recurrent urinary tract infections / 复发性尿路感染
HP:0000011: Neurogenic bladder / 神经源性膀胱功能障碍
HP:0000012: Urinary urgency / 尿急
HP:0000013: Hypoplasia of the uterus / 子宫发育不良
HP:0000014: Abnormality of the bladder / 膀胱异常
HP:0000015: Bladder diverticulum / 膀胱憩室
HP:0000016: Urinary retention / 尿潴留
HP:0000017: Nocturia / 夜尿症
HP:0000019: Urinary hesitancy / 排尿踌躇
HP:0000020: Urinary incontinence / 尿失禁
HP:0000021: Megacystis / 巨膀胱症
HP:0000022: Abnormal male internal genitalia morphology / 男性内生殖器形态异常
HP:0000023: Inguinal hernia / 腹股沟疝
HP:0000024: Prostatitis / 前列腺炎
HP:0000025: Functional abnormality of male internal genitalia / 男性内生殖器功能异常
HP:0000026: Male hypogonadism / 男性性腺功能减退症
HP:0000027: Azoospermia / 无精症
HP:0000028: Cryptorchidism / 隐睾
HP:0000029: Testicular atrophy / 睾丸萎缩
HP:0000030: Testicular gonadoblastoma / 睾丸性腺母细胞瘤
HP:0000031: Epididymitis / 附睾炎
HP:0000032: Abnormality of male external genitalia / 男性外生殖器异常
HP:0000033: Ambiguous genitalia, male / 男性外阴性别不明
HP:0000034: Hydrocele testis / 睾丸鞘膜积液
HP:0000035: Abnormal testis morphology / 睾丸形态异常
HP:0000036: Abnormal penis morphology / 阴茎形态异常
HP:0000037: Male pseudohermaphroditism / 男性假两性畸形
HP:0000039: Epispadias / 尿道上裂
HP:0000040: Long penis / 长阴茎
HP:0000041: Chordee / 阴茎下曲
HP:0000042: Absent external genitalia / 外生殖器缺如
HP:0000044: Hypogonadotropic hypogonadism / 低促性腺激素性性腺功能减退症
HP:0000045: Abnormality of the scrotum / 阴囊异常
HP:0000046: Small scrotum / 小阴囊
HP:0000047: Hypospadias / 尿道下裂
HP:0000048: Bifid scrotum / 阴囊对裂
HP:0000049: Shawl scrotum / 披肩状阴囊
HP:0000050: Hypoplastic male external genitalia / 男性外生殖器发育不良
HP:0000051: Perineal hypospadias / 会阴型尿道下裂
HP:0000052: Urethral atresia, male / 男性尿道闭锁
HP:0000053: Macroorchidism / 巨睾
HP:0000054: Micropenis / 小阴茎
HP:0000055: Abnormality of female external genitalia / 女性外生殖器异常
HP:0000056: Abnormality of the clitoris / 阴蒂异常
HP:0000058: Abnormal labia morphology / 阴唇形态异常
HP:0000059: Hypoplastic labia majora / 大阴唇发育不良
HP:0000060: Clitoral hypoplasia / 阴蒂发育不良
HP:0000061: Ambiguous genitalia, female / 女性外阴性别不明
HP:0000062: Ambiguous genitalia / 外阴性别不明
HP:0000063: Fused labia minora / 小阴唇融合
HP:0000064: Hypoplastic labia minora / 小阴唇发育不良
HP:0000065: Labial hypertrophy / 阴唇肥厚
HP:0000066: Labial hypoplasia / 阴唇发育不良
HP:0000067: Urethral atresia, female / 女性尿道闭锁
HP:0000068: Urethral atresia / 尿道闭锁
HP:0000069: Abnormality of the ureter / 输尿管异常
HP:0000070: Ureterocele / 输尿管囊肿
HP:0000071: Ureteral stenosis / 输尿管狭窄
HP:0000072: Hydroureter / 输尿管积水
HP:0000073: Ureteral duplication / 输尿管重复
HP:0000074: Ureteropelvic junction obstruction / 肾盂输尿管连接部梗阻
HP:0000075: Renal duplication / 肾重复
HP:0000076: Vesicoureteral reflux / 膀胱输尿管返流
HP:0000077: Abnormality of the kidney / 肾脏异常
HP:0000078: Abnormality of the genital system / 生殖系统异常
HP:0000079: Abnormality of the urinary system / 泌尿系统异常
HP:0000080: Abnormality of reproductive system physiology / 生殖系统生理机能异常
HP:0000081: Duplicated collecting system / 集合管系统重复
HP:0000083: Renal insufficiency / 肾功能不全
HP:0000085: Horseshoe kidney / 马蹄肾
HP:0000086: Ectopic kidney / 异位肾
HP:0000089: Renal hypoplasia / 肾发育不全
HP:0000090: Nephronophthisis / 肾结核
HP:0000091: Abnormal renal tubule morphology / 肾小管形态异常
HP:0000092: Renal tubular atrophy / 肾小管萎缩
HP:0000093: Proteinuria / 蛋白尿
HP:0000095: Abnormal renal glomerulus morphology / 肾小球形态异常
HP:0000096: Glomerular sclerosis / 肾小球硬化
HP:0000097: Focal segmental glomerulosclerosis / 局灶节段性肾小球硬化
HP:0000098: Tall stature / 高身材
HP:0000099: Glomerulonephritis / 肾小球肾炎
HP:0000100: Nephrotic syndrome / 肾病综合征
HP:0000103: Polyuria / 多尿
HP:0000104: Renal agenesis / 肾缺如
HP:0000105: Enlarged kidney / 肾脏肿大
HP:0000107: Renal cyst / 肾囊肿
HP:0000108: Renal corticomedullary cysts / 肾皮髓质交界处囊肿
HP:0000110: Renal dysplasia / 肾发育不良
HP:0000111: Renal juxtaglomerular cell hypertrophy/hyperplasia / 肾小球球旁细胞肥大/增生
HP:0000112: Nephropathy / 肾病
HP:0000113: Polycystic kidney dysplasia / 多囊肾性发育不良
HP:0000114: Proximal tubulopathy / 近端肾小管病
HP:0000117: Renal phosphate wasting / 肾源性磷酸盐流失
HP:0000118: Phenotypic abnormality / 表型异常
HP:0000119: Abnormality of the genitourinary system / 泌尿生殖系统异常
HP:0000121: Nephrocalcinosis / 肾钙质沉着症
HP:0000122: Unilateral renal agenesis / 单侧肾缺如
HP:0000123: Nephritis / 肾炎
HP:0000124: Renal tubular dysfunction / 肾小管功能障碍
HP:0000125: Pelvic kidney / 盆腔肾
HP:0000126: Hydronephrosis / 肾积水
HP:0000127: Renal salt wasting / 肾源性盐流失
HP:0000128: Renal potassium wasting / 肾源性钾流失
HP:0000130: Abnormality of the uterus / 子宫异常
HP:0000131: Uterine leiomyoma / 子宫肌瘤
HP:0000132: Menorrhagia / 月经过多症
HP:0000133: Gonadal dysgenesis / 性腺发育不全
HP:0000134: Female hypogonadism / 女性性腺功能减退症
HP:0000135: Hypogonadism / 性腺功能减退症
HP:0000136: Bifid uterus / 双角子宫
HP:0000137: Abnormality of the ovary / 卵巢异常
HP:0000138: Ovarian cyst / 卵巢囊肿
HP:0000139: Uterine prolapse / 子宫脱垂
HP:0000140: Abnormality of the menstrual cycle / 月经周期异常
HP:0000141: Amenorrhea / 闭经
HP:0000142: Abnormal vagina morphology / 阴道形态异常
HP:0000143: Rectovaginal fistula / 直肠阴道瘘
HP:0000144: Decreased fertility / 生育能力下降
HP:0000145: Transverse vaginal septum / 阴道横膈
HP:0000147: Polycystic ovaries / 多囊卵巢
HP:0000148: Vaginal atresia / 阴道闭锁
HP:0000149: Ovarian gonadoblastoma / 卵巢性腺母细胞瘤
HP:0000150: Gonadoblastoma / 性腺母细胞瘤
HP:0000151: Aplasia of the uterus / 子宫发育不全
HP:0000152: Abnormality of head or neck / 头颈部异常
HP:0000153: Abnormality of the mouth / 嘴部异常
HP:0000154: Wide mouth / 宽嘴
HP:0000155: Oral ulcer / 口腔溃疡
HP:0000157: Abnormality of the tongue / 舌异常
HP:0000158: Macroglossia / 巨舌症
HP:0000159: Abnormal lip morphology / 唇形态异常
HP:0000160: Narrow mouth / 小口畸形
HP:0000161: Median cleft lip / 正中唇裂
HP:0000162: Glossoptosis / 舌后坠
HP:0000163: Abnormal oral cavity morphology / 口腔形态异常
HP:0000164: Abnormality of the dentition / 牙列异常
HP:0000166: Severe periodontitis / 重度牙周炎
HP:0000168: Abnormality of the gingiva / 牙龈异常
HP:0000169: Gingival fibromatosis / 牙龈纤维瘤病
HP:0000171: Microglossia / 小舌畸形
HP:0000172: Abnormal uvula morphology / 悬雍垂形态异常
HP:0000174: Abnormal palate morphology / 腭形态异常
HP:0000175: Cleft palate / 腭裂
HP:0000176: Submucous cleft hard palate / 黏膜下硬裂腭
HP:0000177: Abnormality of upper lip / 上唇异常
HP:0000178: Abnormality of lower lip / 下唇异常
HP:0000179: Thick lower lip vermilion / 厚下红唇
HP:0000180: Lobulated tongue / 分叶舌
HP:0000182: Movement abnormality of the tongue / 舌头运动异常
HP:0000183: Difficulty in tongue movements / 舌活动困难
HP:0000185: Cleft soft palate / 软腭裂
HP:0000187: Broad alveolar ridges / 宽牙槽嵴
HP:0000188: Short upper lip / 上唇短小
HP:0000189: Narrow palate / 上腭狭窄
HP:0000190: Abnormal oral frenulum morphology / 口腔系带形态异常
HP:0000191: Accessory oral frenulum / 额外口腔系带
HP:0000193: Bifid uvula / 悬雍垂裂
HP:0000194: Open mouth / 闭口不能
HP:0000196: Lower lip pit / 下唇凹陷
HP:0000197: Abnormal parotid gland morphology / 腮腺形态异常
HP:0000198: Absence of Stensen duct / 无腮腺导管
HP:0000199: Tongue nodules / 舌结节
HP:0000200: Short lingual frenulum / 舌系带过短
HP:0000201: Pierre-Robin sequence / 皮埃尔 - 罗宾序列征
HP:0000202: Oral cleft / 口裂
HP:0000204: Cleft upper lip / 上唇裂
HP:0000205: Pursed lips / 撅起的嘴唇
HP:0000206: Glossitis / 舌炎
HP:0000207: Triangular mouth / 三角嘴
HP:0000211: Trismus / 张口受限
HP:0000212: Gingival overgrowth / 牙龈增生
HP:0000214: Lip telangiectasia / 唇部毛细血管扩张
HP:0000215: Thick upper lip vermilion / 厚上红唇
HP:0000216: Broad secondary alveolar ridge / 宽恒牙槽嵴
HP:0000217: Xerostomia / 口腔干燥
HP:0000218: High palate / 高腭
HP:0000219: Thin upper lip vermilion / 薄上唇红
HP:0000220: Velopharyngeal insufficiency / 腭咽机能不全
HP:0000221: Furrowed tongue / 沟裂舌
HP:0000222: Gingival hyperkeratosis / 牙龈角化过度
HP:0000223: Abnormality of taste sensation / 味觉异常
HP:0000224: Hypogeusia / 味觉减退
HP:0000225: Gingival bleeding / 牙龈出血
HP:0000227: Tongue telangiectasia / 舌毛细血管扩张
HP:0000228: Oral cavity telangiectasia / 口腔毛细管扩张
HP:0000230: Gingivitis / 牙龈炎
HP:0000232: Everted lower lip vermilion / 下唇唇红外翻
HP:0000233: Thin vermilion border / 下红唇薄
HP:0000234: Abnormality of the head / 头部异常
HP:0000235: Abnormality of the fontanelles or cranial sutures / 囟门或颅缝异常
HP:0000236: Abnormality of the anterior fontanelle / 前囟异常
HP:0000237: Small anterior fontanelle / 小前囟
HP:0000238: Hydrocephalus / 脑积水
HP:0000239: Large fontanelles / 大囟门
HP:0000240: Abnormality of skull size / 颅骨大小异常
HP:0000242: Parietal bossing / 顶骨隆起
HP:0000243: Trigonocephaly / 三角头畸形
HP:0000244: Brachyturricephaly / 短尖头畸形
HP:0000245: Abnormal paranasal sinus morphology / 副鼻窦形态异常
HP:0000246: Sinusitis / 鼻窦炎
HP:0000248: Brachycephaly / 短头畸形
HP:0000250: Dense calvaria / 颅盖骨密度过高
HP:0000252: Microcephaly / 小头畸形
HP:0000253: Progressive microcephaly / 渐进性小头畸形
HP:0000255: Acute sinusitis / 急性鼻窦炎
HP:0000256: Macrocephaly / 巨头畸形
HP:0000260: Wide anterior fontanel / 前囟增宽
HP:0000262: Turricephaly / 尖头畸形
HP:0000263: Oxycephaly / 锥形头
HP:0000264: Abnormality of the mastoid / 乳突异常
HP:0000265: Mastoiditis / 乳突炎
HP:0000267: Cranial asymmetry / 颅骨不对称
HP:0000268: Dolichocephaly / 长头畸形
HP:0000269: Prominent occiput / 枕骨突出
HP:0000270: Delayed cranial suture closure / 颅缝闭合延迟
HP:0000271: Abnormality of the face / 脸部异常
HP:0000272: Malar flattening / 颧骨扁平
HP:0000273: Facial grimacing / 面部表情痛苦
HP:0000274: Small face / 小脸
HP:0000275: Narrow face / 脸狭窄
HP:0000276: Long face / 长脸
HP:0000277: Abnormal mandible morphology / 下颌骨形态异常
HP:0000278: Retrognathia / 下颌后缩
HP:0000280: Coarse facial features / 面容粗糙
HP:0000282: Facial edema / 面部水肿
HP:0000283: Broad face / 宽脸
HP:0000286: Epicanthus / 内眦赘皮
HP:0000287: Increased facial adipose tissue / 面部脂肪组织增多
HP:0000288: Abnormality of the philtrum / 人中异常
HP:0000289: Broad philtrum / 宽人中
HP:0000290: Abnormality of the forehead / 前额异常
HP:0000291: Abnormality of facial adipose tissue / 面部脂肪组织异常
HP:0000292: Loss of facial adipose tissue / 面部脂肪组织丢失
HP:0000293: Full cheeks / 脸颊丰满
HP:0000294: Low anterior hairline / 前发际低
HP:0000295: Doll-like facies / 娃娃脸
HP:0000297: Facial hypotonia / 面部肌张力低下
HP:0000298: Mask-like facies / 面具样面容
HP:0000300: Oval face / 卵形脸
HP:0000301: Abnormality of facial musculature / 面部肌肉异常
HP:0000303: Mandibular prognathia / 下颌前突
HP:0000306: Abnormality of the chin / 下巴异常
HP:0000307: Pointed chin / 尖下巴
HP:0000308: Microretrognathia / 下颌小且后移
HP:0000309: Abnormal midface morphology / 面中部形态异常
HP:0000311: Round face / 圆脸
HP:0000315: Abnormality of the orbital region / 眼眶异常
HP:0000316: Hypertelorism / 眼距过宽
HP:0000317: Facial myokymia / 面肌颤搐
HP:0000319: Smooth philtrum / 人中扁平
HP:0000320: Bird-like facies / 鸟样面相
HP:0000321: Square face / 方脸
HP:0000322: Short philtrum / 人中短
HP:0000324: Facial asymmetry / 面部不对称
HP:0000325: Triangular face / 三角脸
HP:0000326: Abnormality of the maxilla / 上颌骨异常
HP:0000327: Hypoplasia of the maxilla / 上颌骨发育不全
HP:0000329: Facial hemangioma / 面部血管瘤
HP:0000331: Short chin / 短下巴
HP:0000336: Prominent supraorbital ridges / 眶上嵴突出
HP:0000337: Broad forehead / 宽前额
HP:0000338: Hypomimic face / 面具样面容
HP:0000339: Pugilistic facies / 拳击手面容
HP:0000340: Sloping forehead / 额头倾斜
HP:0000341: Narrow forehead / 额头狭窄
HP:0000343: Long philtrum / 长人中
HP:0000346: Whistling appearance / 吹口哨面容
HP:0000347: Micrognathia / 小下颌
HP:0000348: High forehead / 额头高
HP:0000349: Widow's peak / 美人尖
HP:0000350: Small forehead / 小额头
HP:0000356: Abnormality of the outer ear / 外耳异常
HP:0000357: Abnormal location of ears / 耳位异常
HP:0000358: Posteriorly rotated ears / 后旋耳
HP:0000359: Abnormality of the inner ear / 内耳异常
HP:0000360: Tinnitus / 耳鸣
HP:0000362: Otosclerosis / 耳硬化症
HP:0000363: Abnormal earlobe morphology / 耳垂形态异常
HP:0000364: Hearing abnormality / 听力异常
HP:0000365: Hearing impairment / 听力障碍
HP:0000366: Abnormality of the nose / 鼻异常
HP:0000368: Low-set, posteriorly rotated ears / 低位后旋转耳
HP:0000369: Low-set ears / 低位耳
HP:0000370: Abnormality of the middle ear / 中耳异常
HP:0000371: Acute otitis media / 急性中耳炎
HP:0000372: Abnormality of the auditory canal / 耳道异常
HP:0000375: Abnormal cochlea morphology / 耳蜗异常
HP:0000376: Incomplete partition of the cochlea type II / II型耳蜗分隔不全
HP:0000377: Abnormal pinna morphology / 耳廓形态异常
HP:0000378: Cupped ear / 杯状耳
HP:0000381: Stapes ankylosis / 镫骨固定
HP:0000383: Abnormal periauricular region morphology / 耳前区形态异常
HP:0000384: Preauricular skin tag / 耳前皮赘
HP:0000385: Small earlobe / 小耳垂
HP:0000387: Absent earlobe / 耳垂缺失
HP:0000388: Otitis media / 中耳炎
HP:0000389: Chronic otitis media / 慢性中耳炎
HP:0000391: Thickened helices / 耳轮增厚
HP:0000394: Lop ear / 垂耳
HP:0000395: Prominent antihelix / 对耳轮突出
HP:0000396: Overfolded helix / 耳轮过度卷曲
HP:0000399: Prelingual sensorineural hearing impairment / 学语前感音神经性听力损失
HP:0000400: Macrotia / 巨耳畸形
HP:0000402: Stenosis of the external auditory canal / 外耳道狭窄
HP:0000403: Recurrent otitis media / 反复发作型中耳炎
HP:0000405: Conductive hearing impairment / 传导性听力障碍
HP:0000407: Sensorineural hearing impairment / 感音神经性耳聋
HP:0000408: Progressive sensorineural hearing impairment / 渐进性感音神经性听力损失
HP:0000410: Mixed hearing impairment / 混合性听力损失
HP:0000411: Protruding ear / 招风耳
HP:0000413: Atresia of the external auditory canal / 外耳道闭锁
HP:0000414: Bulbous nose / 蒜头鼻
HP:0000415: Abnormality of the choanae / 鼻后孔的异常
HP:0000417: Slender nose / 鼻细长
HP:0000418: Narrow nasal ridge / 鼻脊狭窄
HP:0000419: Abnormality of the nasal septum / 鼻中隔异常
HP:0000420: Short nasal septum / 鼻中隔短小
HP:0000421: Epistaxis / 鼻衄
HP:0000422: Abnormal nasal bridge morphology / 鼻梁形态异常
HP:0000426: Prominent nasal bridge / 鼻梁突出
HP:0000429: Abnormality of the nasal alae / 鼻翼异常
HP:0000430: Underdeveloped nasal alae / 鼻翼发育不全
HP:0000431: Wide nasal bridge / 宽鼻梁
HP:0000433: Abnormal nasal mucosa morphology / 鼻粘膜形态异常
HP:0000434: Nasal mucosa telangiectasia / 鼻粘膜毛细血管扩张
HP:0000436: Abnormality of the nasal tip / 鼻尖异常
HP:0000437: Depressed nasal tip / 鼻尖凹陷
HP:0000444: Convex nasal ridge / 凸鼻嵴
HP:0000445: Wide nose / 宽鼻
HP:0000446: Narrow nasal bridge / 鼻梁狭窄
HP:0000447: Pear-shaped nose / 梨形鼻
HP:0000448: Prominent nose / 鼻前突
HP:0000451: Triangular nasal tip / 三角鼻尖
HP:0000452: Choanal stenosis / 鼻后孔狭窄
HP:0000453: Choanal atresia / 鼻后孔闭锁
HP:0000454: Flared nostrils / 喇叭状鼻孔
HP:0000455: Broad nasal tip / 宽鼻尖
HP:0000456: Bifid nasal tip / 鼻尖裂
HP:0000457: Depressed nasal ridge / 鼻嵴凹陷
HP:0000458: Anosmia / 嗅觉丧失
HP:0000460: Narrow nose / 鼻缩窄
HP:0000463: Anteverted nares / 鼻孔前翻
HP:0000464: Abnormality of the neck / 颈部异常
HP:0000465: Webbed neck / 蹼颈
HP:0000466: Limited neck range of motion / 颈部运动范围受限
HP:0000467: Neck muscle weakness / 颈肌无力
HP:0000468: Increased adipose tissue around the neck / 颈周脂肪组织增多
HP:0000470: Short neck / 短颈
HP:0000471: Gastrointestinal angiodysplasia / 胃肠道血管发育不良
HP:0000472: Long neck / 长颈
HP:0000473: Torticollis / 斜颈
HP:0000474: Thickened nuchal skin fold / 颈部皮肤皱襞增厚
HP:0000475: Broad neck / 宽颈
HP:0000476: Cystic hygroma / 囊状水瘤
HP:0000478: Abnormality of the eye / 眼部异常
HP:0000479: Abnormal retinal morphology / 视网膜形态异常
HP:0000480: Retinal coloboma / 视网膜缺损
HP:0000481: Abnormal cornea morphology / 角膜形态异常
HP:0000482: Microcornea / 小角膜
HP:0000483: Astigmatism / 散光
HP:0000484: Hyperopic astigmatism / 远视散光
HP:0000485: Megalocornea / 巨角膜
HP:0000486: Strabismus / 斜视
HP:0000488: Retinopathy / 视网膜病变
HP:0000490: Deeply set eye / 眼睛深陷
HP:0000491: Keratitis / 角膜炎
HP:0000492: Abnormal eyelid morphology / 眼睑形态异常
HP:0000493: Abnormal foveal morphology / 黄斑中央凹形态异常
HP:0000494: Downslanted palpebral fissures / 下斜睑裂
HP:0000495: Recurrent corneal erosions / 复发性角膜糜烂
HP:0000496: Abnormality of eye movement / 眼球运动异常
HP:0000497: Globe retraction and deviation on abduction / 外展时眼球回缩和偏斜
HP:0000498: Blepharitis / 眼睑炎
HP:0000499: Abnormal eyelash morphology / 睫毛形态异常
HP:0000501: Glaucoma / 青光眼
HP:0000502: Abnormal conjunctiva morphology / 结膜形态异常
HP:0000503: Tortuosity of conjunctival vessels / 结膜血管迂曲
HP:0000504: Abnormality of vision / 视力异常
HP:0000505: Visual impairment / 视觉障碍
HP:0000506: Telecanthus / 内眦距过宽
HP:0000508: Ptosis / 上睑下垂
HP:0000509: Conjunctivitis / 结膜炎
HP:0000510: Rod-cone dystrophy / 杆锥体营养不良
HP:0000511: Vertical supranuclear gaze palsy / 垂直性核上性凝视麻痹
HP:0000512: Abnormal electroretinogram / 视网膜电图异常
HP:0000514: Slow saccadic eye movements / 慢扫视眼球运动
HP:0000517: Abnormal lens morphology / 晶状体形态异常
HP:0000518: Cataract / 白内障
HP:0000519: Developmental cataract / 发育性白内障
HP:0000520: Proptosis / 眼球突出
HP:0000522: Alacrima / 无泪
HP:0000523: Subcapsular cataract / 囊膜下白内障
HP:0000524: Conjunctival telangiectasia / 结膜毛细血管扩张
HP:0000525: Abnormality iris morphology / 虹膜形态异常
HP:0000526: Aniridia / 无虹膜
HP:0000527: Long eyelashes / 长睫毛
HP:0000528: Anophthalmia / 无眼畸形
HP:0000529: Progressive visual loss / 进行性视力下降
HP:0000531: Corneal crystals / 角膜结晶
HP:0000532: Abnormal chorioretinal morphology / 脉络膜视网膜形态异常
HP:0000533: Chorioretinal atrophy / 脉络膜视网膜萎缩
HP:0000534: Abnormal eyebrow morphology / 眉毛形态异常
HP:0000537: Epicanthus inversus / 内眦赘皮倒转
HP:0000538: Pseudopapilledema / 假性视乳头水肿
HP:0000539: Abnormality of refraction / 屈光异常
HP:0000540: Hypermetropia / 远视
HP:0000541: Retinal detachment / 视网膜脱离
HP:0000542: Impaired ocular adduction / 眼内收障碍
HP:0000543: Optic disc pallor / 视盘苍白
HP:0000544: External ophthalmoplegia / 眼外肌麻痹
HP:0000545: Myopia / 近视
HP:0000546: Retinal degeneration / 视网膜变性
HP:0000548: Cone/cone-rod dystrophy / 锥杆细胞营养不良
HP:0000549: Abnormal conjugate eye movement / 眼球共轭运动异常
HP:0000550: Undetectable electroretinogram / 视网膜电流图熄灭型
HP:0000551: Color vision defect / 色觉缺陷
HP:0000552: Tritanomaly / 蓝色弱
HP:0000553: Abnormal uvea morphology / 葡萄膜形态异常
HP:0000554: Uveitis / 葡萄膜炎
HP:0000555: Leukocoria / 白瞳症
HP:0000556: Retinal dystrophy / 视网膜营养不良
HP:0000557: Buphthalmos / 爆裂眼
HP:0000558: Rieger anomaly / Rieger综合征
HP:0000559: Corneal scarring / 角膜瘢痕
HP:0000561: Absent eyelashes / 睫毛缺失
HP:0000563: Keratoconus / 圆锥角膜
HP:0000564: Lacrimal duct atresia / 泪道闭锁
HP:0000565: Esotropia / 内斜视
HP:0000567: Chorioretinal coloboma / 脉络膜视网膜缺损
HP:0000568: Microphthalmia / 小眼症
HP:0000570: Abnormal saccadic eye movements / 眼球扫视运动异常
HP:0000571: Hypometric saccades / 扫视不到位
HP:0000572: Visual loss / 视力丧失
HP:0000573: Retinal hemorrhage / 视网膜出血
HP:0000574: Thick eyebrow / 眉毛浓密
HP:0000575: Scotoma / 盲点
HP:0000576: Centrocecal scotoma / 中央盲点
HP:0000577: Exotropia / 外斜视
HP:0000579: Nasolacrimal duct obstruction / 鼻泪管阻塞
HP:0000580: Pigmentary retinopathy / 色素性视网膜病
HP:0000581: Blepharophimosis / 眼睑裂狭小
HP:0000582: Upslanted palpebral fissure / 睑裂上斜
HP:0000584: Punctate corneal epithelial erosions / 点状角膜上皮糜烂
HP:0000585: Band keratopathy / 带状角膜病
HP:0000586: Shallow orbits / 浅眼眶
HP:0000587: Abnormality of the optic nerve / 视神经异常
HP:0000588: Optic disc coloboma / 视盘缺损
HP:0000589: Coloboma / 眼球缺损
HP:0000590: Progressive external ophthalmoplegia / 进行性眼外肌麻痹
HP:0000591: Abnormal sclera morphology / 巩膜异常
HP:0000592: Blue sclerae / 蓝巩膜
HP:0000593: Abnormal anterior chamber morphology / 前房形态异常
HP:0000594: Shallow anterior chamber / 浅前房
HP:0000597: Ophthalmoparesis / 眼肌瘫痪
HP:0000598: Abnormality of the ear / 耳部异常
HP:0000599: Abnormality of the frontal hairline / 前额发际线异常
HP:0000600: Abnormality of the pharynx / 咽部异常
HP:0000601: Hypotelorism / 眼距过窄
HP:0000602: Ophthalmoplegia / 眼肌麻痹
HP:0000603: Central scotoma / 中心暗点
HP:0000605: Supranuclear gaze palsy / 核上性凝视麻痹
HP:0000606: Abnormality of the periorbital region / 眶周畸形
HP:0000607: Periorbital wrinkles / 眶周皱纹
HP:0000608: Macular degeneration / 黄斑变性
HP:0000609: Optic nerve hypoplasia / 视神经发育不全
HP:0000610: Abnormal choroid morphology / 脉络膜形态异常
HP:0000612: Iris coloboma / 虹膜缺损
HP:0000613: Photophobia / 畏光
HP:0000614: Abnormal nasolacrimal system morphology / 鼻泪管系统的异常
HP:0000615: Abnormal pupil morphology / 瞳孔形态异常
HP:0000616: Miosis / 瞳孔缩小
HP:0000617: Abnormality of ocular smooth pursuit / 眼部平稳跟踪异常
HP:0000618: Blindness / 失明
HP:0000619: Impaired convergence / 辐凑受损
HP:0000620: Dacryocystitis / 泪囊炎
HP:0000621: Entropion / 眼睑内翻
HP:0000622: Blurred vision / 视力模糊
HP:0000623: Supranuclear ophthalmoplegia / 核上性眼肌麻痹
HP:0000625: Eyelid coloboma / 眼睑缺损
HP:0000627: Posterior embryotoxon / 后胚胎环
HP:0000629: Periorbital fullness / 眶周丰满
HP:0000630: Abnormal retinal artery morphology / 视网膜动脉形态异常
HP:0000631: Retinal arterial tortuosity / 视网膜动脉迂曲
HP:0000632: Lacrimation abnormality / 泪液分泌异常
HP:0000633: Decreased lacrimation / 泪液分泌减少
HP:0000634: Impaired ocular abduction / 眼外展障碍
HP:0000635: Blue irides / 蓝色虹膜
HP:0000636: Upper eyelid coloboma / 上眼睑缺损
HP:0000637: Long palpebral fissure / 睑裂增宽
HP:0000639: Nystagmus / 眼球震颤
HP:0000640: Gaze-evoked nystagmus / 凝视诱发眼震
HP:0000641: Dysmetric saccades / 不规则扫视
HP:0000642: Red-green dyschromatopsia / 红绿色觉障碍
HP:0000643: Blepharospasm / 眼睑痉挛
HP:0000646: Amblyopia / 弱视
HP:0000647: Sclerocornea / 角膜巩膜化
HP:0000648: Optic atrophy / 视神经萎缩
HP:0000649: Abnormality of visual evoked potentials / 视觉诱发电位异常
HP:0000650: Abnormal amplitude of pattern reversal visual evoked potentials / 图形视觉诱发电位振幅异常
HP:0000651: Diplopia / 复视
HP:0000652: Lower eyelid coloboma / 下眼睑缺损
HP:0000653: Sparse eyelashes / 睫毛稀疏
HP:0000654: Decreased light- and dark-adapted electroretinogram amplitude / 光和暗适应视网膜电图振幅降低
HP:0000656: Ectropion / 睑外翻
HP:0000657: Oculomotor apraxia / 眼球运动失用
HP:0000658: Eyelid apraxia / 眼睑失用症
HP:0000659: Peters anomaly / Peters 综合征
HP:0000660: Lipemia retinalis / 视网膜脂血症
HP:0000661: Palpebral fissure narrowing on adduction / 睑裂内收狭窄
HP:0000662: Nyctalopia / 夜盲症
HP:0000664: Synophrys / 连眉
HP:0000666: Horizontal nystagmus / 水平眼震
HP:0000667: Phthisis bulbi / 眼萎缩
HP:0000668: Hypodontia / 缺牙症
HP:0000670: Carious teeth / 龋齿
HP:0000674: Anodontia / 无牙畸形
HP:0000675: Macrodontia of permanent maxillary central incisor / 上颌恒中切牙巨齿
HP:0000676: Abnormality of the incisor / 切牙异常
HP:0000677: Oligodontia / 少牙畸形
HP:0000678: Dental crowding / 牙列拥挤
HP:0000679: Taurodontia / 牙髓腔增大
HP:0000680: Delayed eruption of primary teeth / 乳牙萌出延迟
HP:0000682: Abnormal dental enamel morphology / 牙釉质形态异常
HP:0000683: Grayish enamel / 灰色牙釉质
HP:0000684: Delayed eruption of teeth / 牙齿萌出延迟
HP:0000685: Hypoplasia of teeth / 牙齿发育不全
HP:0000687: Widely spaced teeth / 牙间隙增宽
HP:0000689: Dental malocclusion / 牙齿错位咬合
HP:0000690: Agenesis of maxillary lateral incisor / 上颌侧切牙发育不全
HP:0000691: Microdontia / 小牙畸形
HP:0000692: Tooth malposition / 牙列不齐
HP:0000694: Odontodysplasia / 空壳牙
HP:0000695: Natal tooth / 胎生牙齿
HP:0000696: Delayed eruption of permanent teeth / 恒牙萌出延迟
HP:0000698: Conical tooth / 锥状齿
HP:0000699: Diastema / 牙间隙
HP:0000700: Periapical bone loss / 根尖周的骨质流失
HP:0000703: Dentinogenesis imperfecta / 牙本质发育不全
HP:0000704: Periodontitis / 牙周炎
HP:0000705: Amelogenesis imperfecta / 牙釉质生长不全
HP:0000706: Eruption failure / 牙萌出失败
HP:0000707: Abnormality of the nervous system / 神经系统异常
HP:0000708: Behavioral abnormality / 行为异常
HP:0000709: Psychosis / 精神病
HP:0000710: Hyperorality / 口欲亢进
HP:0000711: Restlessness / 坐立不安
HP:0000712: Emotional lability / 情绪不稳
HP:0000713: Agitation / 焦虑不安
HP:0000716: Depression / 抑郁
HP:0000717: Autism / 孤独症
HP:0000718: Aggressive behavior / 攻击性行为
HP:0000719: Inappropriate behavior / 不适宜行为
HP:0000721: Lack of spontaneous play / 自发性游戏缺乏
HP:0000722: Obsessive-compulsive behavior / 强迫行为
HP:0000723: Restrictive behavior / 限制性行为
HP:0000725: Psychotic episodes / 精神病发作
HP:0000726: Dementia / 痴呆
HP:0000727: Frontal lobe dementia / 额叶痴呆
HP:0000728: Impaired ability to form peer relationships / 同伴关系建立能力障碍
HP:0000729: Autistic behavior / 自闭症行为
HP:0000732: Inflexible adherence to routines or rituals / 恪守程序或习惯
HP:0000733: Motor stereotypy / 运动刻板
HP:0000734: Disinhibition / 脱抑制
HP:0000735: Impaired social interactions / 社会交往障碍
HP:0000736: Short attention span / 注意力短暂
HP:0000737: Irritability / 易激惹
HP:0000738: Hallucinations / 幻觉
HP:0000739: Anxiety / 焦虑
HP:0000740: Episodic paroxysmal anxiety / 情景性阵发性焦虑
HP:0000741: Apathy / 情感淡漠
HP:0000742: Self-mutilation / 自残
HP:0000743: Frontal release signs / 额叶释放征象
HP:0000744: Low frustration tolerance / 低挫折承受力
HP:0000745: Diminished motivation / 动机减弱
HP:0000746: Delusions / 妄想
HP:0000748: Inappropriate laughter / 不适宜的发笑
HP:0000749: Paroxysmal bursts of laughter / 阵发性大笑
HP:0000750: Delayed speech and language development / 语言发育迟缓
HP:0000751: Personality changes / 性格改变
HP:0000752: Hyperactivity / 多动症
HP:0000753: Autism with high cognitive abilities / 具有高认知能力的自闭症
HP:0000756: Agoraphobia / 广场恐怖症
HP:0000757: Lack of insight / 自知力缺乏
HP:0000758: Abnormal nonverbal communicative behavior / 非言语交际行为异常
HP:0000759: Abnormal peripheral nervous system morphology / 周围神经系统形态异常
HP:0000762: Decreased nerve conduction velocity / 神经传导速度降低
HP:0000763: Sensory neuropathy / 感觉神经病
HP:0000764: Peripheral axonal degeneration / 外围神经轴索变性