TaoMedAI/RareMedData huggingface dataset:
HP:0010174: Broad phalanx of the toes / 趾骨粗大
HP:0010175: Bullet-shaped toe phalanx / 子弹形趾骨
HP:0010176: Curved toe phalanx / 趾骨弯曲
HP:0010177: Osteolytic defects of the phalanges of the toes / 趾骨溶骨性缺陷
HP:0010178: Patchy sclerosis of toe phalanx / 趾骨斑片状硬化
HP:0010179: Symphalangism affecting the phalanges of the toes / 趾骨关节融合
HP:0010180: Triangular shaped phalanges of the toes / 三角形趾骨
HP:0010181: Duplication of phalanx of toe / 趾骨重复
HP:0010182: Abnormality of the distal phalanges of the toes / 末节趾骨异常
HP:0010183: Abnormality of the middle phalanges of the toes / 中节趾骨异常
HP:0010184: Abnormality of toe proximal phalanx / 近节趾骨异常
HP:0010185: Aplasia/Hypoplasia of the distal phalanges of the toes / 末节趾骨发育不良/发育不全
HP:0010186: Broad distal phalanx of the toes / 末节趾骨变宽
HP:0010187: Bullet-shaped distal toe phalanx / 子弹形末节趾骨
HP:0010188: Curved distal toe phalanx / 末节趾骨弯曲
HP:0010189: Osteolytic defects of the distal phalanges of the toes / 末节趾骨溶骨性缺陷
HP:0010190: Patchy sclerosis of distal toe phalanx / 末节趾骨斑片状硬化
HP:0010191: Symphalangism affecting the distal phalanges of the toes / 末节趾关节融合
HP:0010192: Triangular shaped distal phalanges of the toes / 三角形末节趾骨
HP:0010193: Duplication of distal phalanx of toe / 末节趾骨重复
HP:0010194: Aplasia/Hypoplasia of the middle phalanges of the toes / 中节趾骨发育不全或发育不良
HP:0010195: Broad middle phalanges of the toes / 中节趾骨变宽
HP:0010196: Bullet-shaped middle toe phalanx / 子弹形中节趾骨
HP:0010197: Curved middle toe phalanx / 中节趾骨弯曲
HP:0010198: Osteolytic defects of the middle phalanges of the toes / 中节趾骨溶骨性缺陷
HP:0010199: Patchy sclerosis of middle toe phalanx / 中节趾趾骨斑片状硬化
HP:0010200: Symphalangism affecting the middle phalanges of the toes / 中节趾关节融合
HP:0010201: Triangular shaped middle phalanges of the toes / 三角形中节趾骨
HP:0010202: Duplication of middle phalanx of toe / 中节趾骨重复
HP:0010203: Aplasia/hypoplasia of proximal toe phalanx / 近节趾骨发育不全或发育不良
HP:0010204: Broad proximal phalanx of toe / 近节趾骨宽大
HP:0010205: Bullet-shaped proximal toe phalanx / 子弹形近节趾骨
HP:0010206: Curved proximal toe phalanx / 近节趾骨弯曲
HP:0010207: Osteolytic defect of the proximal toe phalanx / 近节趾骨溶骨性缺陷
HP:0010208: Patchy sclerosis of proximal toe phalanx / 近节趾骨斑片状硬化
HP:0010209: Symphalangism affecting the proximal phalanges of the toes / 近节趾关节融合
HP:0010210: Triangular shaped proximal phalanges of the toes / 三角形近节趾骨
HP:0010211: Duplication of proximal phalanx of toe / 近节趾骨重复
HP:0010212: Flexion contracture of the hallux / 拇趾屈曲挛缩
HP:0010213: Contracture of the tarsometatarsal joint of the hallux / 拇趾跖跗关节挛缩
HP:0010214: Contracture of the interphalangeal joint of the hallux / 拇趾趾间关节挛缩
HP:0010215: Contractures of the metatarsophalangeal joint of the hallux / 拇趾跖趾关节挛缩
HP:0010219: Structural foot deformity / 足结构性畸形
HP:0010220: Abnormality of the epiphysis of the 2nd metacarpal / 第二掌骨骨骺异常
HP:0010222: Abnormality of the epiphysis of the 3rd metacarpal / 第三掌骨骨骺异常
HP:0010223: Pseudoepiphysis of the 3rd metacarpal / 第三掌骨假骨骺
HP:0010224: Abnormality of the epiphysis of the 4th metacarpal / 第四掌骨骨骺异常
HP:0010225: Pseudoepiphysis of the 4th metacarpal / 第四掌骨假骨骺
HP:0010226: Abnormality of the epiphysis of the 5th metacarpal / 第五掌骨骨骺异常
HP:0010227: Pseudoepiphysis of the 5th metacarpal / 第五掌骨假骨骺
HP:0010228: Absent epiphyses of the phalanges of the hand / 指骨骨骺缺如
HP:0010229: Bracket epiphyses of the phalanges of the hand / 指骨夹板样骨骺
HP:0010230: Cone-shaped epiphyses of the phalanges of the hand / 指骨锥形骨骺
HP:0010231: Enlarged epiphyses of the phalanges of the hand / 指骨骨骺膨大
HP:0010232: Fragmentation of the epiphyses of the phalanges of the hand / 指骨骨骺碎裂
HP:0010233: Irregular epiphyses of the phalanges of the hand / 指骨不规则骨骺
HP:0010234: Ivory epiphyses of the phalanges of the hand / 指骨象牙色骨骺
HP:0010235: Pseudoepiphyses of the phalanges of the hand / 手指骨假骨骺
HP:0010236: Small epiphyses of the phalanges of the hand / 指骨小骨骺
HP:0010237: Epiphyseal stippling of finger phalanges / 指骨骨骺点状钙化
HP:0010238: Triangular epiphyses of the phalanges of the hand / 指骨三角形骨骺
HP:0010239: Aplasia of the middle phalanx of the hand / 中节指骨发育不全
HP:0010241: Short proximal phalanx of finger / 近节指骨短小
HP:0010242: Aplasia of the proximal phalanges of the hand / 近节指骨发育不全
HP:0010243: Abnormality of the epiphyses of the distal phalanx of finger / 末节指骨骨骺异常
HP:0010244: Abnormality of the epiphyses of the middle phalanges of the hand / 中节指骨骨骺异常
HP:0010245: Abnormality of the epiphyses of the proximal phalanges of the hand / 近节指骨骨骺异常
HP:0010246: Absent epiphyses of the distal phalanges of the hand / 末节指骨骨骺缺如
HP:0010247: Bracket epiphyses of the distal phalanges of the hand / 末节指骨夹板样骨骺
HP:0010248: Cone-shaped epiphyses of the distal phalanges of the hand / 末节指骨的锥形骨骺
HP:0010249: Enlarged epiphyses of the distal phalanges of the hand / 末节指骨骨骺膨大
HP:0010250: Fragmentation of the epiphyses of the distal phalanges of the hand / 末节指骨骨骺碎裂
HP:0010251: Irregular epiphyses of the distal phalanges of the hand / 末节指骨不规则骨骺
HP:0010252: Ivory epiphyses of the distal phalanges of the hand / 末节指骨象牙色骨骺
HP:0010253: Pseudoepiphyses of the distal phalanges of the hand / 末节指骨假骨骺
HP:0010254: Small epiphyses of the distal phalanges of the hand / 末节指骨小骨骺
HP:0010255: Stippling of the epiphyses of the distal phalanges of the hand / 末节指骨骨骺点状钙化
HP:0010256: Triangular epiphyses of the distal phalanges of the hand / 末节指骨三角形骨骺
HP:0010257: Absent epiphyses of the middle phalanges of the hand / 中节指骨骨骺缺如
HP:0010258: Bracket epiphyses of the middle phalanges of the hand / 中节指骨夹板样骨骺
HP:0010259: Cone-shaped epiphyses of the middle phalanges of the hand / 中节指骨锥形骨骺
HP:0010260: Enlarged epiphyses of the middle phalanges of the hand / 中节指骨骨骺膨大
HP:0010261: Fragmentation of the epiphyses of the middle phalanges of the hand / 中节指骨骨骺碎裂
HP:0010262: Irregular epiphyses of the middle phalanges of the hand / 中节指骨不规则骨骺
HP:0010263: Ivory epiphyses of the middle phalanges of the hand / 中节指骨象牙色骨骺
HP:0010264: Pseudoepiphyses of the middle phalanges of the hand / 中节指骨假骨骺
HP:0010265: Small epiphyses of the middle phalanges of the hand / 中节指骨小骨骺
HP:0010266: Stippling of the epiphyses of the middle phalanges of the hand / 中节指骨骨骺点状钙化
HP:0010267: Triangular epiphyses of the middle phalanges of the hand / 中节指骨三角形骨骺
HP:0010268: Absent epiphyses of the proximal phalanges of the hand / 近节指骨骨骺缺如
HP:0010269: Bracket epiphyses of the proximal phalanges of the hand / 近节指骨夹板样骨骺
HP:0010270: Cone-shaped epiphyses of the proximal phalanges of the hand / 近节指骨锥形骨骺
HP:0010271: Enlarged epiphyses of the proximal phalanges of the hand / 近节指骨骨骺膨大
HP:0010272: Fragmentation of the epiphyses of the proximal phalanges of the hand / 近节指骨骨骺碎裂
HP:0010273: Irregular epiphyses of the proximal phalanges of the hand / 近节指骨不规则骨骺
HP:0010274: Ivory epiphyses of the proximal phalanges of the hand / 近节指骨象牙色骨骺
HP:0010275: Pseudoepiphyses of the proximal phalanges of the hand / 近节指骨假骨骺
HP:0010276: Small epiphyses of the proximal phalanges of the hand / 近节指骨小骨骺
HP:0010277: Stippling of the epiphyses of the proximal phalanges of the hand / 近节指骨骨骺点状钙化
HP:0010278: Triangular epiphyses of the proximal phalanges of the hand / 近节指骨三角形骨骺
HP:0010280: Stomatitis / 口腔炎
HP:0010281: Cleft lower lip / 下唇裂
HP:0010282: Thin lower lip vermilion / 上红唇薄
HP:0010284: Intra-oral hyperpigmentation / 口内色素沉着
HP:0010285: Oral synechia / 口腔粘连
HP:0010286: Abnormal salivary gland morphology / 唾液腺形态异常
HP:0010287: Abnormality of the submandibular glands / 颌下腺异常
HP:0010288: Abnormality of the sublingual glands / 舌下腺异常
HP:0010289: Cleft of alveolar ridge of maxilla / 上颌牙槽嵴裂
HP:0010290: Short hard palate / 短硬腭
HP:0010291: Prominent palatine ridges / 腭嵴突出
HP:0010292: Absent uvula / 悬雍垂缺失
HP:0010293: Aplasia/Hypoplasia of the uvula / 悬雍垂发育不全／未发育
HP:0010294: Palate fistula / 腭瘘
HP:0010295: Aplasia/Hypoplasia of the tongue / 舌未发育/舌发育不全
HP:0010296: Ankyloglossia / 舌系带短缩
HP:0010297: Bifid tongue / 舌裂
HP:0010298: Smooth tongue / 光舌
HP:0010299: Abnormal dentin morphology / 牙本质形态异常
HP:0010300: Abnormally low-pitched voice / 异常低声调
HP:0010301: Spinal dysraphism / 椎管闭合不全
HP:0010302: Spinal cord tumor / 脊髓肿瘤
HP:0010303: Abnormal spinal meningeal morphology / 脊髓脊膜形态异常
HP:0010304: Spinal meningeal diverticulum / 脊髓脊膜憩室
HP:0010305: Absence of the sacrum / 骶骨缺如
HP:0010306: Short thorax / 胸部短小
HP:0010307: Stridor / 喘鸣
HP:0010308: Asternia / 无胸骨畸形
HP:0010309: Bifid sternum / 胸骨裂
HP:0010310: Chylothorax / 乳糜胸
HP:0010311: Aplasia/Hypoplasia of the breasts / 乳房发育不全/不良
HP:0010312: Asymmetry of the breasts / 乳房不对称
HP:0010313: Breast hypertrophy / 乳房肥大
HP:0010314: Premature thelarche / 乳房早熟
HP:0010315: Aplasia/Hypoplasia of the diaphragm / 横膈发育不全/发育不良
HP:0010316: Ebstein anomaly of the tricuspid valve / 三尖瓣Ebstein畸形
HP:0010317: Scapular aplasia / 肩胛骨发育不全
HP:0010318: Aplasia/Hypoplasia of the abdominal wall musculature / 腹壁肌群发育不良/发育不全
HP:0010319: Abnormality of the 2nd toe / 第二趾异常
HP:0010320: Abnormality of the 3rd toe / 第三趾异常
HP:0010321: Abnormality of the 4th toe / 第四趾异常
HP:0010322: Abnormality of the 5th toe / 第五趾异常
HP:0010323: Abnormality of the epiphyses of the 2nd toe / 第二趾骨骺异常
HP:0010324: Abnormal morphology of phalanx of the 2nd toe / 第二趾趾骨形态异常
HP:0010325: Aplasia/Hypoplasia of the 2nd toe / 第二趾发育不良/发育不全
HP:0010326: Deviation of the 2nd toe / 第二趾偏斜
HP:0010327: Flexion contracture of the 2nd toe / 第二趾屈曲挛缩
HP:0010328: Polydactyly affecting the 2nd toe / 第二趾多趾
HP:0010329: Abnormality of the epiphyses of the 3rd toe / 第三趾骨骺异常
HP:0010330: Abnormality of the phalanges of the 3rd toe / 第三趾趾骨异常
HP:0010331: Aplasia/Hypoplasia of the 3rd toe / 第三趾趾骨发育不良/发育不全
HP:0010332: Deviation of the 3rd toe / 第三趾偏斜
HP:0010333: Flexion contracture of 3rd toe / 第三趾屈曲挛缩
HP:0010334: Polydactyly affecting the 3rd toe / 第三趾多趾
HP:0010335: Abnormality of the epiphyses of the 4th toe / 第四趾骨骺异常
HP:0010336: Abnormality of the phalanges of the 4th toe / 第四趾趾骨异常
HP:0010337: Aplasia/Hypoplasia of the 4th toe / 第四趾发育不良/发育不全
HP:0010338: Deviation of the 4th toe / 第四趾偏斜
HP:0010339: Flexion contracture of the 4th toe / 第四趾屈曲挛缩
HP:0010340: Polydactyly affecting the 4th toe / 第四趾多趾
HP:0010341: Abnormality of the epiphyses of the 5th toe / 第五趾骨骺异常
HP:0010342: Abnormality of the phalanges of the 5th toe / 第五趾趾骨异常
HP:0010343: Aplasia/Hypoplasia of the 5th toe / 第五趾发育不良/发育不全
HP:0010344: Deviation of the 5th toe / 第五趾偏斜
HP:0010345: Flexion contracture of the 5th toe / 第五趾屈曲挛缩
HP:0010347: Aplasia/Hypoplasia of the phalanges of the 2nd toe / 第二趾趾骨发育不良/发育不全
HP:0010348: Broad phalanges of the 2nd toe / 第二趾趾骨膨大
HP:0010349: Bullet-shaped 2nd toe phalanx / 第二趾子弹形趾骨
HP:0010350: Curved 2nd toe phalanx / 第二趾趾骨弯曲
HP:0010351: Osteolytic defects of the phalanges of the 2nd toe / 第二趾趾骨溶骨性缺陷
HP:0010352: Patchy sclerosis of 2nd toe phalanx / 第二趾趾骨斑片状硬化
HP:0010353: Second toe symphalangism / 第二趾关节粘连
HP:0010354: Triangular shaped phalanges of the 2nd toe / 第二趾三角形趾骨
HP:0010355: Duplication of the phalanges of the 2nd toe / 第二趾趾骨重复
HP:0010356: Abnormality of the distal phalanx of the 2nd toe / 第二趾末节趾骨异常
HP:0010357: Abnormality of the middle phalanx of the 2nd toe / 第二趾中节趾骨异常
HP:0010358: Abnormal morphology of the proximal phalanx of the 2nd toe / 第二趾近节趾骨形态异常
HP:0010359: Aplasia/Hypoplasia of the phalanges of the 3rd toe / 第三趾趾骨发育不良/发育不全
HP:0010360: Broad phalanges of the 3rd toe / 第三趾趾骨膨大
HP:0010361: Bullet-shaped 3rd toe phalanx / 第三趾子弹形趾骨
HP:0010362: Curved 3rd toe phalanx / 第三趾趾骨弯曲
HP:0010363: Osteolytic defects of the phalanges of the 3rd toe / 第三趾趾骨溶骨性缺陷
HP:0010364: Patchy sclerosis of 3rd toe phalanx / 第三趾趾骨斑片状硬化
HP:0010365: Symphalangism affecting the phalanges of the 3rd toe / 第三趾趾关节融合
HP:0010366: Triangular shaped phalanges of the 3rd toe / 第三趾三角形趾骨
HP:0010367: Duplication of phalanx of the 3rd toe / 第三趾趾骨重复
HP:0010368: Abnormality of the distal phalanx of the 3rd toe / 第三趾末节趾骨异常
HP:0010369: Abnormality of the middle phalanx of the 3rd toe / 第三脚趾中节趾骨异常
HP:0010370: Abnormal morphology of the proximal phalanx of the 3rd toe / 第三趾近节趾骨形态异常
HP:0010371: Aplasia/Hypoplasia of the phalanges of the 4th toe / 第四趾趾骨发育不全/发育不良
HP:0010372: Broad phalanges of the 4th toe / 第四趾趾骨膨大
HP:0010373: Bullet-shaped 4th toe phalanx / 第四趾子弹形趾骨
HP:0010374: Curved 4th toe phalanx / 第四趾趾骨弯曲
HP:0010375: Osteolytic defects of the phalanges of the 4th toe / 第四趾趾骨溶骨性缺陷
HP:0010376: Patchy sclerosis of 4th toe phalanx / 第四趾趾骨斑片状硬化
HP:0010377: Symphalangism affecting the phalanges of the 4th toe / 第四趾趾关节融合
HP:0010378: Triangular shaped phalanges of the 4th toe / 第四趾三角形趾骨
HP:0010379: Duplication of phalanx of the 4th toe / 第四趾骨重复
HP:0010380: Abnormality of the distal phalanx of the 4th toe / 第四趾末节趾骨异常
HP:0010381: Abnormality of the middle phalanx of the 4th toe / 第四趾中节趾骨异常
HP:0010382: Abnormal morphology of the proximal phalanx of the 4th toe / 第四趾近节趾骨形态异常
HP:0010383: Aplasia/Hypoplasia of the phalanges of the 5th toe / 第五趾趾骨发育不全/发育不良
HP:0010384: Broad phalanges of the 5th toe / 第五趾趾骨膨大
HP:0010385: Bullet-shaped 5th toe phalanx / 第五趾子弹形趾骨
HP:0010386: Curved 5th toe phalanx / 第五趾趾骨弯曲
HP:0010387: Osteolytic defects of the phalanges of the 5th toe / 第五趾趾骨溶骨性缺陷
HP:0010388: Patchy sclerosis of 5th toe phalanx / 第五趾趾骨斑片状硬化
HP:0010389: Symphalangism affecting the phalanges of the 5th toe / 第五趾趾关节融合
HP:0010390: Triangular shaped phalanges of the 5th toe / 第五趾三角形趾骨
HP:0010391: Duplication of the phalanges of the 5th toe / 第五趾趾骨重复
HP:0010392: Abnormality of the distal phalanx of the 5th toe / 第五趾末节趾骨异常
HP:0010393: Abnormality of the middle phalanx of the 5th toe / 第五趾中节趾骨异常
HP:0010394: Abnormal morphology of the proximal phalanx of the 5th toe / 第五趾近节趾骨形态异常
HP:0010395: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe / 第二趾近节趾骨发育不了/发育不全
HP:0010396: Broad proximal phalanx of the 2nd toe / 第二趾近端趾骨变宽
HP:0010397: Bullet-shaped proximal phalanx of the 2nd toe / 第二趾子弹形近端趾骨
HP:0010398: Curved proximal phalanx of the 2nd toe / 第二趾近节趾骨弯曲
HP:0010399: Osteolytic defects of the proximal phalanx of the 2nd toe / 第二趾近节趾骨溶骨性缺陷
HP:0010400: Patchy sclerosis of the proximal phalanx of the 2nd toe / 第二趾近节趾骨斑块状硬化
HP:0010401: Symphalangism affecting the proximal phalanx of the 2nd toe / 第二趾近节趾关节融合
HP:0010402: Triangular shaped proximal phalanx of the 2nd toe / 第二趾三角形近节趾骨
HP:0010403: Duplication of the proximal phalanx of the 2nd toe / 第二趾近节趾骨重复
HP:0010404: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe / 第二趾中节趾骨发育不全/发育不良
HP:0010405: Broad middle phalanx of the 2nd toe / 第二趾中节趾骨变宽
HP:0010406: Bullet-shaped middle phalanx of the 2nd toe / 第二趾子弹形中节趾骨
HP:0010407: Curved middle phalanx of the 2nd toe / 第二趾中节趾骨弯曲
HP:0010408: Osteolytic defects of the middle phalanx of the 2nd toe / 第二趾中节趾骨溶骨性缺陷
HP:0010409: Patchy sclerosis of the middle phalanx of the 2nd toe / 第二趾中节趾斑片状硬化
HP:0010410: Symphalangism affecting the middle phalanx of the 2nd toe / 第二趾中节趾关节的融合
HP:0010411: Triangular shaped middle phalanx of the 2nd toe / 第二趾三角形中节趾骨
HP:0010412: Duplication of the middle phalanx of the 2nd toe / 第二趾中节趾骨重复
HP:0010413: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe / 第二趾末节趾骨发育不良/发育不全
HP:0010414: Broad distal phalanx of the 2nd toe / 第二趾末节趾骨变宽
HP:0010415: Bullet-shaped distal phalanx of the 2nd toe / 第二趾子弹形末节趾骨
HP:0010416: Curved distal phalanx of the 2nd toe / 第二趾末节趾骨弯曲
HP:0010417: Osteolytic defects of the distal phalanx of the 2nd toe / 第二趾末节趾骨溶骨性缺陷
HP:0010418: Patchy sclerosis of the distal phalanx of the 2nd toe / 第二趾末节趾骨斑片状硬化
HP:0010419: Symphalangism affecting the distal phalanx of the 2nd toe / 第二趾末节趾关节融合
HP:0010420: Triangular shaped distal phalanx of the 2nd toe / 第二趾三角形末节趾骨
HP:0010421: Duplication of the distal phalanx of the 2nd toe / 第二趾末节趾骨重复
HP:0010422: Complete duplication of the proximal phalanx of the 2nd toe / 第二趾近节趾骨的完全重复
HP:0010423: Partial duplication of the proximal phalanx of the 2nd toe / 第二趾近节趾骨部分重复
HP:0010424: Complete duplication of the distal phalanx of the 2nd toe / 第二趾的末节趾骨的完全重复
HP:0010425: Partial duplication of the distal phalanx of the 2nd toe / 第二趾末节趾骨部分重复
HP:0010426: Complete duplication of the middle phalanx of the 2nd toe / 第二趾中节趾骨的完全重复
HP:0010427: Partial duplication of the middle phalanx of the 2nd toe / 第二趾中节趾骨部分重复
HP:0010428: Partial duplication of phalanx of the 2nd toe / 第二趾趾骨部分重复
HP:0010429: Complete duplication of the phalanges of the 2nd toe / 第二趾趾骨的完全重复
HP:0010430: Aplasia of the phalanges of the 2nd toe / 第二趾趾骨发育不全
HP:0010431: Short phalanx of the 2nd toe / 第二趾趾骨短
HP:0010432: Absent distal phalanx of the 2nd toe / 第二趾末节趾骨缺如
HP:0010433: Short distal phalanx of the 2nd toe / 第二趾短末节趾骨
HP:0010434: Aplasia of the middle phalanx of the 2nd toe / 第二趾中节趾骨发育不全
HP:0010435: Short middle phalanx of the 2nd toe / 第二趾中节趾骨短
HP:0010436: Aplasia of the proximal phalanx of the 2nd toe / 第二趾近节趾骨发育不全
HP:0010437: Short proximal phalanx of the 2nd toe / 第二趾近节趾骨短
HP:0010438: Abnormal ventricular septum morphology / 室间隔形态异常
HP:0010440: Ectopic accesory toe-like appendage / 异位性脚趾样附属物
HP:0010441: Ectopic accessory finger-like appendage / 异位性手指样附属物
HP:0010442: Polydactyly / 多指（趾）畸形
HP:0010443: Bifid femur / 股骨骨裂
HP:0010444: Pulmonary insufficiency / 肺动脉瓣关闭不全
HP:0010445: Primum atrial septal defect / 原发孔型房间隔缺损
HP:0010446: Tricuspid stenosis / 三尖瓣狭窄
HP:0010447: Anal fistula / 肛瘘
HP:0010448: Colonic atresia / 结肠闭锁
HP:0010450: Esophageal stenosis / 食管狭窄
HP:0010451: Aplasia/Hypoplasia of the spleen / 脾未发育/发育不全
HP:0010452: Ectopia of the spleen / 脾异位
HP:0010453: Pelvic bone asymmetry / 骨盆不对称
HP:0010454: Acetabular spurs / 髋臼骨刺
HP:0010455: Steep acetabular roof / 陡峭的髋臼顶
HP:0010456: Abnormal greater sciatic notch morphology / 坐骨大切迹形态异常
HP:0010458: Female pseudohermaphroditism / 女性假两性畸形
HP:0010459: True hermaphroditism / 真两性畸形
HP:0010460: Abnormality of the female genitalia / 女性生殖器官异常
HP:0010461: Abnormality of the male genitalia / 男性生殖器异常
HP:0010462: Aplasia/Hypoplasia of the ovary / 卵巢发育不全/发育不良
HP:0010463: Aplasia of the ovary / 卵巢发育不全
HP:0010464: Streak ovary / 条索状卵巢
HP:0010465: Precocious puberty in females / 女性性早熟
HP:0010468: Aplasia/Hypoplasia of the testes / 睾丸发育不全/发育不良
HP:0010469: Absent testis / 睾丸缺如
HP:0010470: Supernumerary testes / 多睾症
HP:0010471: Oligosacchariduria / 寡糖尿症
HP:0010472: Abnormal circulating porphyrin concentration / 血红素生物合成途径异常
HP:0010473: Porphyrinuria / 卟啉尿症
HP:0010474: Bladder stones / 膀胱结石
HP:0010475: Cloacal exstrophy / 泄殖腔外翻
HP:0010476: Aplasia/Hypoplasia of the bladder / 膀胱发育不全/发育不良
HP:0010477: Aplasia of the bladder / 膀胱发育不全
HP:0010478: Abnormality of the urachus / 脐尿管异常
HP:0010479: Patent urachus / 脐尿管未闭
HP:0010480: Urethral fistula / 尿道瘘
HP:0010481: Urethral valve / 尿道瓣膜
HP:0010482: Acromelia of the upper limbs / 上肢肢端短缩
HP:0010483: Amniotic constriction rings of arms / 臂部的羊膜缩窄环
HP:0010484: Hypertrophy of the upper limb / 上肢肥大
HP:0010485: Hyperextensibility at elbow / 肘关节过伸
HP:0010486: Abnormality of the hypothenar eminence / 小鱼际隆起异常
HP:0010487: Small hypothenar eminence / 小鱼际小
HP:0010488: Aplasia/Hypoplasia of the palmar creases / 手掌掌纹发育不全
HP:0010489: Absent palmar crease / 手掌掌纹缺如
HP:0010490: Abnormality of the palmar creases / 掌纹异常
HP:0010491: Digital constriction ring / 指趾缩窄环
HP:0010492: Osseous finger syndactyly / 骨性融合性并指畸形
HP:0010493: Long metacarpals / 长掌骨
HP:0010494: Acromelia of the lower limbs / 下肢短
HP:0010495: Amniotic constriction rings of legs / 腿部的羊膜缩窄环
HP:0010496: Hypertrophy of the lower limb / 下肢肥大
HP:0010497: Sirenomelia / 美人鱼综合症（并腿畸形）
HP:0010498: Bipartite patella / 二分髌骨
HP:0010499: Patellar subluxation / 髌骨半脱位
HP:0010500: Hyperextensibility of the knee / 膝关节过伸
HP:0010501: Limitation of knee mobility / 膝关节活动受限
HP:0010502: Fibular bowing / 腓骨弯曲
HP:0010503: Fibular duplication / 腓骨重复
HP:0010504: Increased length of the tibia / 胫骨过长
HP:0010505: Limitation of movement at ankles / 踝关节运动受限
HP:0010506: Abnormal plantar dermatoglyphics / 跖部异常皮纹
HP:0010507: Foot asymmetry / 脚不对称
HP:0010508: Metatarsus valgus / 跖骨外翻
HP:0010509: Aplasia of the tarsal bones / 跗骨发育不全
HP:0010510: Hypermobility of toe joints / 趾关节活动过度
HP:0010511: Long toe / 长脚趾
HP:0010512: Adrenal calcification / 肾上腺钙化
HP:0010513: Pituitary calcification / 垂体钙化
HP:0010514: Hyperpituitarism / 垂体功能亢进症
HP:0010515: Aplasia/Hypoplasia of the thymus / 胸腺未发育/发育不全
HP:0010516: Thymus hyperplasia / 胸腺增生
HP:0010517: Ectopic thymus tissue / 异位胸腺组织
HP:0010518: Thyroglossal cyst / 甲状舌管囊肿
HP:0010519: Increased fetal movement / 胎动增加
HP:0010521: Gait apraxia / 步态失用
HP:0010522: Dyslexia / 失读症
HP:0010523: Alexia / 失读症
HP:0010524: Agnosia / 失认
HP:0010525: Finger agnosia / 手指失认
HP:0010526: Dysgraphia / 书写困难
HP:0010527: Astereognosia / 实体觉缺失
HP:0010528: Prosopagnosia / 面孔失认症
HP:0010529: Echolalia / 模仿性言语
HP:0010530: Palatal tremor / 腭肌阵挛
HP:0010531: Spinal myoclonus / 脊髓性肌阵挛
HP:0010532: Paroxysmal vertigo / 发作性眩晕
HP:0010533: Spasmus nutans / 点头状痉挛
HP:0010534: Transient global amnesia / 短暂性全面性遗忘症
HP:0010535: Sleep apnea / 睡眠呼吸暂停
HP:0010536: Central sleep apnea / 中枢性睡眠呼吸暂停
HP:0010537: Wide cranial sutures / 颅缝增宽
HP:0010538: Small sella turcica / 小蝶鞍
HP:0010539: Thin calvarium / 颅骨薄
HP:0010540: Advanced pneumatization of cranial sinuses / 颅窦过度气化
HP:0010541: Cutis gyrata of scalp / 头皮回状纹
HP:0010542: Vestibular nystagmus / 前庭性眼震
HP:0010543: Opsoclonus / 斜视眼阵挛
HP:0010544: Vertical nystagmus / 垂直眼球震颤
HP:0010545: Downbeat nystagmus / 下击型眼球震颤
HP:0010546: Muscle fibrillation / 肌纤维颤动
HP:0010547: Muscle flaccidity / 肌无力
HP:0010548: Percussion myotonia / 敲击性肌强直
HP:0010549: Weakness due to upper motor neuron dysfunction / 上运动神经元功能障碍导致的无力
HP:0010550: Paraplegia / 截瘫
HP:0010551: Paraplegia/paraparesis / 截瘫
HP:0010553: Oculogyric crisis / 动眼神经危象
HP:0010554: Cutaneous finger syndactyly / 手指皮肤性并指
HP:0010557: Overlapping fingers / 指交叠
HP:0010558: Abnormality of the clivus / 斜坡异常
HP:0010559: Vertical clivus / 斜坡垂直
HP:0010560: Undulate clavicles / 波浪状锁骨
HP:0010561: Undulate ribs / 波浪状肋骨
HP:0010562: Keloids / 瘢痕疙瘩
HP:0010564: Bifid epiglottis / 会厌分叉
HP:0010565: Aplasia/Hypoplasia of the Epiglottis / 会厌的发育缺陷/不全
HP:0010566: Hamartoma / 错构瘤
HP:0010567: Y-shaped metatarsals / Y形跖骨
HP:0010568: Hamartoma of the eye / 眼部错构瘤
HP:0010569: Elevated 7-dehydrocholesterol / 7-脱氢胆固醇水平升高
HP:0010570: Low maternal circulating alpha-fetoprotein concentration / 母体循环甲胎蛋白水平降低
HP:0010571: Elevated levels of phytanic acid / 植烷酸水平升高
HP:0010574: Abnormality of the epiphysis of the femoral head / 股骨头骨骺异常
HP:0010575: Dysplasia of the femoral head / 股骨头发育不良
HP:0010576: Intracranial cystic lesion / 颅内囊性病变
HP:0010577: Absent epiphyses / 骨骺缺如
HP:0010578: Bracket epiphyses / 夹板型骨骺
HP:0010579: Cone-shaped epiphysis / 锥形骨骺
HP:0010580: Enlarged epiphyses / 骨骺膨大
HP:0010582: Irregular epiphyses / 不规则骨骺
HP:0010583: Ivory epiphyses / 象牙化骨骺
HP:0010584: Pseudoepiphyses / 假骨骺
HP:0010585: Small epiphyses / 小骨骺
HP:0010587: Triangular epiphyses / 三角形骨骺
HP:0010588: Premature epimetaphyseal fusion / 干骺端融合过早
HP:0010590: Abnormality of the distal femoral epiphysis / 股骨远端骨骺异常
HP:0010591: Abnormality of the proximal tibial epiphysis / 胫骨近端骨骺异常
HP:0010592: Abnormality of the distal tibial epiphysis / 胫骨远端骨骺异常
HP:0010593: Abnormality of fibular epiphyses / 腓骨骨骺异常
HP:0010594: Abnormality of the proximal fibular epiphysis / 腓骨近端骨骺异常
HP:0010595: Abnormality of the distal fibular epiphysis / 腓骨远端骨骺异常
HP:0010596: Abnormality of the proximal radial epiphysis / 桡骨近端骨骺异常
HP:0010597: Abnormality of the distal radial epiphysis / 桡骨远端骨骺异常
HP:0010598: Abnormality of the proximal humeral epiphysis / 肱骨近端骨骺异常
HP:0010599: Abnormality of the distal humeral epiphysis / 肱骨远端骨骺异常
HP:0010600: Abnormal distal ulnar epiphysis morphology / 尺骨远端骨骺形态异常
HP:0010601: Abnormal proximal ulnar epiphysis morphology / 尺骨近端骨骺形态异常
HP:0010602: Type 2 muscle fiber predominance / 2型肌纤维占优势
HP:0010603: Odontogenic keratocysts of the jaw / 颌骨牙源性角化囊肿
HP:0010604: Cyst of the eyelid / 眼睑囊肿
HP:0010605: Chalazion / 睑板腺囊肿
HP:0010606: Hordeolum / 麦粒肿
HP:0010607: Hordeolum externum / 外麦粒肿
HP:0010608: Hordeolum internum / 内麦粒肿
HP:0010609: Skin tags / 皮赘
HP:0010610: Palmar pits / 手掌点状隐窝
HP:0010612: Plantar pits / 跖部隐窝
HP:0010614: Fibroma / 纤维瘤
HP:0010615: Angiofibromas / 血管纤维瘤
HP:0010616: Lung fibroma / 肺纤维瘤
HP:0010617: Cardiac fibroma / 心脏纤维瘤
HP:0010618: Ovarian fibroma / 卵巢纤维瘤
HP:0010619: Fibroadenoma of the breast / 乳腺纤维腺瘤
HP:0010620: Malar prominence / 颧骨突出
HP:0010621: Cutaneous syndactyly of toes / 脚趾皮肤性并趾
HP:0010622: Neoplasm of the skeletal system / 骨骼系统肿瘤
HP:0010624: Aplastic/hypoplastic toenail / 趾甲发育缺陷/不全
HP:0010625: Anterior pituitary dysgenesis / 垂体前叶发育不良
HP:0010626: Anterior pituitary agenesis / 垂体前叶缺失
HP:0010627: Anterior pituitary hypoplasia / 垂体前叶发育不全
HP:0010628: Facial palsy / 面部神经麻痹
HP:0010629: Abnormal morphology of the cortex of the humerus / 肱骨皮质形态异常