TaoMedAI/RareMedData huggingface dataset:
HP:0005445: Enlarged posterior fossa / 后颅窝增宽
HP:0005446: Obtuse angle of mandible / 下颌钝角
HP:0005449: Bridged sella turcica / 桥形蝶鞍
HP:0005450: Calvarial osteosclerosis / 颅骨硬化
HP:0005451: Decreased cranial base ossification / 颅底骨化减少
HP:0005453: Absent/hypoplastic paranasal sinuses / 副鼻窦缺如/发育不全
HP:0005456: Absent ethmoidal sinuses / 筛窦缺如
HP:0005458: Premature closure of fontanelles / 囟门过早闭合
HP:0005461: Craniofacial disproportion / 颅面比例失调
HP:0005462: Calcification of falx cerebri / 大脑镰钙化
HP:0005463: Elongated sella turcica / 长蝶鞍
HP:0005464: Craniofacial osteosclerosis / 颅面骨硬化
HP:0005465: Facial hyperostosis / 面骨增生
HP:0005466: Hypoplasia of the frontal bone / 额骨发育不全
HP:0005469: Flat occiput / 枕骨扁平
HP:0005472: Orbital craniosynostosis / 眶颅缝早闭
HP:0005473: Fusion of middle ear ossicles / 中耳听小骨融合
HP:0005474: Decreased calvarial ossification / 颅骨骨化减少
HP:0005476: Widely patent sagittal suture / 矢状缝未闭
HP:0005477: Progressive sclerosis of skull base / 颅底渐进性硬化症
HP:0005478: Prominent frontal sinuses / 额窦突出
HP:0005479: Decreased circulating IgE / 循环IgE水平降低
HP:0005482: Abnormality of the alternative complement pathway / 替代补体途径异常
HP:0005483: Abnormal epiglottis morphology / 会厌形态异常
HP:0005484: Secondary microcephaly / 继发性小头畸形
HP:0005486: Small fontanelle / 小囟门
HP:0005487: Prominent metopic ridge / 额嵴突出
HP:0005490: Postnatal macrocephaly / 出生后巨头畸形
HP:0005494: Premature posterior fontanelle closure / 后囟门过早闭合
HP:0005495: Metopic suture patent to nasal root / 额缝开放至鼻根
HP:0005498: Midline skin dimples over anterior/posterior fontanelles / 前/后囟门中线皮肤凹陷
HP:0005502: Increased red cell osmotic fragility / 红细胞渗透脆性增加
HP:0005505: Refractory anemia / 难治性贫血
HP:0005506: Chronic myelogenous leukemia / 慢性粒细胞白血病
HP:0005507: Hemoglobin Barts / Barts 血红蛋白
HP:0005508: Monoclonal immunoglobulin M proteinemia / 单克隆IgM血症
HP:0005510: Transient erythroblastopenia / 一过性幼红细胞减少症
HP:0005511: Heinz body anemia / 海因小体贫血
HP:0005512: Impaired neutrophil killing of staphylococci / 中性粒细胞杀伤葡萄球菌功能减低
HP:0005513: Increased megakaryocyte count / 巨核细胞计数增加
HP:0005517: T-cell lymphoma/leukemia / T细胞淋巴瘤/白血病
HP:0005518: Increased mean corpuscular volume / 平均红细胞体积增加
HP:0005520: Chronic disseminated intravascular coagulation / 慢性弥漫性血管内凝血
HP:0005521: Disseminated intravascular coagulation / 弥漫性血管内凝血
HP:0005522: Pyridoxine-responsive sideroblastic anemia / 吡哆醇反应性铁粒幼细胞性贫血
HP:0005523: Lymphoproliferative disorder / 淋巴增生性疾病
HP:0005524: Macrocytic hemolytic disease / 大红细胞溶血病
HP:0005525: Spontaneous hemolytic crises / 自发性溶血危象
HP:0005526: Lymphoid leukemia / 淋巴细胞白血病
HP:0005527: Reduced kininogen activity / 激肽原活性降低
HP:0005528: Bone marrow hypocellularity / 骨髓细胞减少
HP:0005531: Biphenotypic acute leukemia / 急性双表型白血病
HP:0005532: Macrocytic dyserythropoietic anemia / 大细胞性红细胞生成异常性贫血
HP:0005534: Transient myeloproliferative syndrome / 一过性骨髓增生综合征
HP:0005535: Exercise-induced hemolysis / 运动诱发性性溶血
HP:0005537: Decreased mean platelet volume / 平均血小板体积减小
HP:0005539: T cell chronic lymphocytic lymphoma/leukemia / 慢性T淋巴细胞淋巴瘤/白血病
HP:0005540: Red blood cell keratocytosis / 红细胞角化增多症
HP:0005541: Congenital agranulocytosis / 先天性粒细胞缺乏症
HP:0005542: Prolonged whole-blood clotting time / 全血凝血时间延长
HP:0005543: Reduced protein C activity / 蛋白C活性减低
HP:0005546: Increased red cell osmotic resistance / 红细胞渗透阻力增加
HP:0005547: Myeloproliferative disorder / 骨髓增生性疾病
HP:0005548: Megakaryocytopenia / 巨核细胞减少症
HP:0005550: Chronic lymphatic leukemia / 慢性淋巴细胞白血病
HP:0005556: Abnormality of the metopic suture / 额缝异常
HP:0005557: Abnormal zygomatic arch morphology / 颧弓形态异常
HP:0005558: Chronic leukemia / 慢性白血病
HP:0005559: Abnormality of the kinin-kallikrein system / 激肽 - 激肽释放酶系统的异常
HP:0005560: Imbalanced hemoglobin synthesis / 血红蛋白合成失衡
HP:0005561: Abnormality of bone marrow cell morphology / 骨髓细胞形态异常
HP:0005562: Multiple renal cysts / 多发性肾囊肿
HP:0005563: Decreased numbers of nephrons / 肾单位数量减少
HP:0005564: Absence of renal corticomedullary differentiation / 肾皮髓质分界消失
HP:0005565: Reduced renal corticomedullary differentiation / 肾皮髓质分界模糊
HP:0005567: Renal magnesium wasting / 肾脏镁消耗
HP:0005571: Increased renal tubular phosphate reabsorption / 肾小管磷重吸收增加
HP:0005572: Decreased renal tubular phosphate excretion / 肾小管磷排泄减少
HP:0005574: Non-acidotic proximal tubulopathy / 非酸中毒性近端肾小管病
HP:0005575: Hemolytic-uremic syndrome / 溶血性尿毒症综合征
HP:0005576: Tubulointerstitial fibrosis / 肾小管间质纤维化
HP:0005579: Impaired renal ltubular reabsorption of chloride / 肾小管重吸收氯功能受损
HP:0005580: Duplication of renal pelvis / 双肾盂
HP:0005583: Tubular basement membrane disintegration / 肾小管基底膜解体
HP:0005584: Renal cell carcinoma / 肾细胞癌
HP:0005585: Spotty hyperpigmentation / 点滴状色素沉着
HP:0005586: Hyperpigmentation in sun-exposed areas / 晒斑，日光性色素沉着
HP:0005587: Profuse pigmented skin lesions / 泛发性色素性皮损
HP:0005588: Patchy palmoplantar hyperkeratosis / 斑片状掌跖角化病
HP:0005590: Spotty hypopigmentation / 点滴状色素减退
HP:0005592: Giant melanosomes in melanocytes / 黑素细胞中巨大黑素小体
HP:0005593: Macular hypopigmented whorls, streaks, and patches / 螺纹状、线状和点状色素减退斑
HP:0005595: Generalized hyperkeratosis / 泛发性角化过度
HP:0005597: Congenital alopecia totalis / 先天性全秃
HP:0005598: Facial telangiectasia in butterfly midface distribution / 面部毛细血管蝶状扩张
HP:0005599: Hypopigmentation of hair / 毛发色素减退
HP:0005600: Congenital giant melanocytic nevus / 先天性巨大型色素痣
HP:0005602: Progressive vitiligo / 进展期白癜风
HP:0005603: Numerous congenital melanocytic nevi / 多发性先天性色素痣
HP:0005605: Large cafe-au-lait macules with irregular margins / 边缘不规则的较大咖啡牛奶斑
HP:0005606: Hyperpigmented nevi and streak / 色素痣和线状色素沉着
HP:0005607: Abnormal tracheobronchial morphology / 气管支气管系统形态异常
HP:0005608: Bilobate gallbladder / 双叶胆囊
HP:0005609: Gallbladder dysfunction / 胆囊功能障碍
HP:0005612: Arthrogryposis-like hand anomaly / 手关节挛缩状畸形
HP:0005613: Aplasia/hypoplasia of the femur / 股骨发育不良/发育不全
HP:0005616: Accelerated skeletal maturation / 骨骼成熟加速
HP:0005617: Bilateral camptodactyly / 双侧指屈曲
HP:0005619: Thoracolumbar kyphosis / 胸腰部脊柱后凸
HP:0005620: Hypermobility of interphalangeal joints / 指间关节活动过度
HP:0005621: Trapezoidal vertebral body / 楔形椎体
HP:0005622: Broad long bones / 长骨增宽
HP:0005623: Absent ossification of calvaria / 颅骨未骨化
HP:0005625: Osteoporosis of vertebrae / 椎骨骨质疏松症
HP:0005626: Posterior fusion of lumbosacral vertebrae / 腰骶椎后部融合
HP:0005627: Type D brachydactyly / D型短指
HP:0005632: Absent forearm / 前臂缺如
HP:0005638: Decreased anterioposterior diameter of lumbar vertebral bodies / 腰椎椎体前后径减小
HP:0005639: Hyperextensible hand joints / 手关节背伸过度
HP:0005640: Abnormal vertebral segmentation and fusion / 椎体分节和融合异常
HP:0005643: Short 3rd toe / 第三趾过短
HP:0005645: Intervertebral disk calcification / 椎间盘钙化
HP:0005648: Bilateral ulnar hypoplasia / 双侧尺骨发育不全
HP:0005650: 2-5 finger cutaneous syndactyly / 第二-五指皮肤性并指
HP:0005652: Cortical sclerosis / 骨皮质硬化
HP:0005653: Moderate generalized osteoporosis / 全身性中度骨质疏松症
HP:0005655: Multiple digital exostoses / 多发性指趾外生骨疣
HP:0005656: Positional foot deformity / 位置性足畸形
HP:0005659: Thoracic kyphoscoliosis / 胸椎后侧凸
HP:0005661: Salmonella osteomyelitis / 沙门氏菌骨髓炎
HP:0005665: Massively thickened long bone cortices / 长骨皮质极度增厚
HP:0005667: Os odontoideum / 游离齿状突(齿状突小骨)
HP:0005671: Bilateral intracerebral calcifications / 双侧颅内钙化
HP:0005676: Rudimentary postaxial polydactyly of hands / 轴后多指畸形
HP:0005678: Anterior atlanto-occipital dislocation / 寰枕关节前脱位
HP:0005679: Dupuytren contracture / 掌腱膜挛缩
HP:0005680: Tongue-like lumbar vertebral deformities / 腰椎舌状变形
HP:0005681: Juvenile rheumatoid arthritis / 幼年类风湿关节炎
HP:0005682: Talocalcaneal synostosis / 距-跟骨骨性连合
HP:0005684: Distal arthrogryposis / 远端关节挛缩
HP:0005686: Patchy osteosclerosis / 斑片性骨硬化
HP:0005687: Deformed humeral heads / 肱骨头变形
HP:0005688: Dysplastic distal thumb phalanges with a central hole / 伴有中心孔的远端拇指指骨发育不良
HP:0005689: Dermatoglyphic ridges abnormal / 皮纹脊异常
HP:0005692: Joint hyperflexibility / 关节过度屈曲
HP:0005694: Partial fusion of proximal row of carpal bones / 近排腕骨部分融合
HP:0005696: Postaxial polydactyly type A / 轴后多指趾畸形A型
HP:0005700: Increased bone density with cystic changes / 骨密度增加伴囊性变
HP:0005701: Multiple enchondromatosis / 多发性内生软骨瘤
HP:0005707: Bilateral triphalangeal thumbs / 双侧三指节拇指畸形
HP:0005709: 2-3 toe cutaneous syndactyly / 第二、三脚趾皮肤性并趾
HP:0005715: Flattened knee epiphyses / 扁平膝骨骺
HP:0005716: Lethal skeletal dysplasia / 致死性骨骼发育不良
HP:0005720: Shortening of all metacarpals / 全部掌骨缩短
HP:0005722: Hyperextensible thumb / 拇指过度背伸
HP:0005723: Shoe-shaped sella turcica / 鞋形蝶鞍
HP:0005725: Nonopposable triphalangeal thumb / 不能对指的三节拇指
HP:0005726: Thumbs hypoplastic with bulbous tips / 拇指发育不良伴球根形指尖
HP:0005731: Cortical irregularity / 骨皮质不规则
HP:0005733: Spinal stenosis with reduced interpedicular distance / 椎管狭窄伴椎弓根间距缩短
HP:0005736: Short tibia / 短胫骨
HP:0005739: Posterior subluxation of radial head / 桡骨头向后半脱位
HP:0005743: Avascular necrosis of the capital femoral epiphysis / 股骨头骨骺缺血性坏死
HP:0005745: Congenital foot contractures / 先天性足挛缩
HP:0005746: Osteosclerosis of the base of the skull / 颅底骨硬化
HP:0005747: Easily subluxated first metacarpophalangeal joints / 第一掌指关节易半脱位
HP:0005750: Lower-limb joint contracture / 下肢关节挛缩
HP:0005752: Flattened moderately deformed vertebrae / 中度扁平变形的椎体
HP:0005756: Neonatal epiphyseal stippling / 新生儿骨骺点状钙化
HP:0005758: Basilar impression / 颅底压迹
HP:0005759: Small flat posterior fossa / 后颅窝扁小
HP:0005764: Polyarticular arthritis / 多发性关节炎
HP:0005765: Sacral meningocele / 骶脊膜膨出
HP:0005766: Disproportionate shortening of the tibia / 胫骨不成比例缩短
HP:0005767: 1-2 toe complete cutaneous syndactyly / 第一、二脚趾完全皮肤性并趾
HP:0005768: 2-4 toe cutaneous syndactyly / 第二-四趾皮肤性并趾
HP:0005769: Fifth finger distal phalanx clinodactyly / 第五指末节指骨弯曲
HP:0005772: Aplasia/Hypoplasia of the tibia / 胫骨发育不全或发育低下
HP:0005773: Short forearm / 前臂短
HP:0005775: Multiple skeletal anomalies / 多发性骨骼异常
HP:0005776: Carpal bone malsegmentation / 腕骨分节异常
HP:0005780: Absent fourth finger distal interphalangeal crease / 第四指远端指节间褶痕缺失
HP:0005781: Contractures of the large joints / 大关节挛缩
HP:0005787: Lumbar platyspondyly / 腰椎扁平椎
HP:0005788: Abnormal cervical myelogram / 颈髓造影异常
HP:0005789: Generalized osteosclerosis / 周身性骨硬化
HP:0005790: Short mandibular condyles / 下颌骨髁突短
HP:0005791: Cortical thickening of long bone diaphyses / 长骨骨干皮质增厚
HP:0005792: Short humerus / 肱骨短
HP:0005793: Shortening of all distal phalanges of the toes / 全部脚趾远节趾骨缩短
HP:0005798: Posterior radial head dislocation / 桡骨头后脱位
HP:0005802: Coalescence of tarsal bones / 跗骨融合
HP:0005807: Absent distal phalanges / 远节指骨缺失
HP:0005815: Supernumerary ribs / 多余肋
HP:0005817: Postaxial polysyndactyly of foot / 轴后多趾并趾
HP:0005819: Short middle phalanx of finger / 中节指骨短
HP:0005820: Superior rib anomalies / 高位肋骨畸形
HP:0005824: Clinodactyly of the 2nd toe / 第二趾屈趾畸形
HP:0005825: Mixed sclerosis of humeral metaphyses / 肱骨干骺端混合硬化
HP:0005828: Transient pulmonary infiltrates / 一过性肺浸润
HP:0005829: Maldevelopment of radioulnar joint / 桡尺骨关节发育不良
HP:0005830: Flexion contracture of toe / 脚趾屈曲挛缩
HP:0005831: Type B brachydactyly / B型短指（趾）
HP:0005832: Dysharmonic delayed bone age / 发育障碍性骨龄延迟
HP:0005841: Calcific stippling of infantile cartilaginous skeleton / 婴儿软骨骨骼点状钙化
HP:0005844: Rounded middle phalanx of finger / 手指中节指骨圆钝
HP:0005849: Diffuse cerebral calcification / 弥漫性脑钙化
HP:0005850: Congenital talipes calcaneovalgus / 先天性马蹄外翻足
HP:0005852: Limited elbow extension and supination / 肘部伸展和旋后受限
HP:0005853: Congenital foot contraction deformities / 先天性足挛缩变形
HP:0005855: Multiple prenatal fractures / 多发性产前骨折
HP:0005856: Ulnar radial head dislocation / 尺桡骨头脱位
HP:0005857: Cervical spina bifida / 颈椎脊柱裂
HP:0005863: Type E brachydactyly / E型短指（趾）
HP:0005864: Pseudoarthrosis / 假关节
HP:0005866: Opposable triphalangeal thumb / 能对指的三节拇指
HP:0005867: 4-5 metacarpal synostosis / 第四、五掌骨骨性结合
HP:0005868: Metaphyseal enchondromatosis / 干骺端软骨瘤病
HP:0005871: Metaphyseal chondrodysplasia / 干骺端软骨发育不良
HP:0005872: Brachytelomesophalangy / 中远节指（趾）骨缩短
HP:0005873: Polysyndactyly of hallux / 拇趾并趾和多趾畸形
HP:0005875: Increased dermatoglyphic whorls / 指（趾）螺形纹增加
HP:0005876: Progressive flexion contractures / 进行性屈曲挛缩
HP:0005877: Multiple small vertebral fractures / 多发性小椎体骨折
HP:0005878: Enlarged sagittal diameter of the cervical canal / 颈椎椎管矢状径增大
HP:0005879: Congenital finger flexion contractures / 先天性手指屈曲挛缩
HP:0005880: Metacarpophalangeal synostosis / 掌指关节骨性融合
HP:0005881: Spinal instability / 脊柱不稳
HP:0005882: Dermatoglyphic variants / 皮纹变异
HP:0005885: Absent ossification of cervical vertebral bodies / 颈椎椎体未骨化
HP:0005886: Aphalangy of the hands / 手指骨缺失
HP:0005890: Hyperostosis cranialis interna / 颅骨内板增生
HP:0005891: Progressive forearm bowing / 前臂渐进性弯曲
HP:0005892: Proximal tibial and fibular fusion / 胫腓骨近端融合
HP:0005894: Double first metacarpals / 第一掌骨重复
HP:0005895: Radial deviation of thumb terminal phalanx / 拇指末节指骨径向偏移
HP:0005897: Severe generalized osteoporosis / 严重全身性骨质疏松症
HP:0005900: Fifth metacarpal with ulnar notch / 第五掌骨尺骨切迹
HP:0005905: Abnormal cervical curvature / 颈椎曲度异常
HP:0005906: Delayed pneumatization of the mastoid process / 乳突气腔形成延迟
HP:0005910: Rhomboid or triangular shaped 5th finger middle phalanx / 第五指中节指骨呈菱形或三角形
HP:0005912: Biliary atresia / 胆道闭锁
HP:0005913: Abnormal metacarpal epiphysis morphology / 掌故骨骺形态异常
HP:0005914: Aplasia/Hypoplasia involving the metacarpal bones / 掌骨发育不全或发育低下
HP:0005916: Abnormal metacarpal morphology / 掌骨形态异常
HP:0005917: Supernumerary metacarpal bones / 额外掌骨
HP:0005918: Abnormal finger phalanx morphology / 指骨形态异常
HP:0005920: Abnormal epiphysis morphology of the phalanges of the hand / 指骨骨骺形态异常
HP:0005922: Abnormal hand morphology / 手形态异常
HP:0005923: Abnormal hand metaphysis morphology / 手骨干骺端形态异常
HP:0005924: Abnormal hand epiphysis morphology / 手骨骨骺形态异常
HP:0005925: Abnormal hand diaphysis morphology / 手骨骨干形态异常
HP:0005926: Abnormal hand cortical bone morphology / 手骨皮质骨形态异常
HP:0005927: Aplasia/hypoplasia involving bones of the hand / 手部骨骼发育不良/发育不全
HP:0005928: Synostosis involving the fibula / 累及腓骨的骨性连合
HP:0005929: Synostosis involving the tibia / 累及胫骨的骨性连合
HP:0005930: Abnormal epiphysis morphology / 骨骺形态异常
HP:0005932: Abnormal renal corticomedullary differentiation / 肾皮髓质分界异常
HP:0005934: Imperfect vocal cord adduction / 声带内收缺陷
HP:0005938: Abnormal respiratory motile cilium morphology / 运动纤毛细胞形态异常
HP:0005939: Multiple bilateral pneumothoraces / 复发性双侧气胸
HP:0005941: Intermittent hyperpnea at rest / 静息性间歇过度通气
HP:0005942: Desquamative interstitial pneumonitis / 脱屑间质性肺炎
HP:0005943: Respiratory arrest / 呼吸骤停
HP:0005944: Bilateral lung agenesis / 双肺发育不全
HP:0005945: Laryngeal obstruction / 喉梗阻
HP:0005946: Ventilator dependence with inability to wean / 呼吸机依赖无法脱机
HP:0005947: Decreased sensitivity to hypoxemia / 低氧血症敏感性减低
HP:0005948: Multiple pulmonary cysts / 多发肺囊肿
HP:0005949: Apneic episodes in infancy / 婴儿期呼吸暂停
HP:0005950: Laryngeal web / 喉蹼
HP:0005951: Progressive inspiratory stridor / 渐进式吸气性喘鸣
HP:0005954: Pulmonary capillary hemangiomatosis / 肺毛细血管瘤病
HP:0005956: Anteroposteriorly shortened larynx / 喉前后径缩短
HP:0005957: Breathing dysregulation / 呼吸失调
HP:0005959: Impaired gluconeogenesis / 糖异生功能障碍
HP:0005961: Hypoargininemia / 低精氨酸血症
HP:0005964: Intermittent hypothermia / 间歇性低体温
HP:0005967: Mixed respiratory and metabolic acidosis / 混合性呼吸和代谢性酸中毒
HP:0005968: Temperature instability / 体温不稳定
HP:0005972: Respiratory acidosis / 呼吸性酸中毒
HP:0005973: Fructose intolerance / 果糖不耐受
HP:0005974: Episodic ketoacidosis / 阵发性酸中毒
HP:0005976: Hyperkalemic metabolic acidosis / 高钾代谢性酸中毒
HP:0005977: Hypochloremic metabolic alkalosis / 低氯性代谢性碱中毒
HP:0005978: Type II diabetes mellitus / 2型糖尿病
HP:0005979: Metabolic ketoacidosis / 代谢性酮症酸中毒
HP:0005982: Reduced phenylalanine hydroxylase level / 苯丙氨酸羟化酶活性降低
HP:0005984: Elevated maternal serum alpha-fetoprotein / 孕妇血清α-甲胎蛋白水平升高
HP:0005986: Limitation of neck motion / 颈部活动受限
HP:0005987: Multinodular goiter / 多结节性甲状腺肿
HP:0005988: Congenital muscular torticollis / 先天性肌性斜颈
HP:0005989: Redundant neck skin / 颈部皮肤增厚
HP:0005990: Thyroid hypoplasia / 甲状腺发育不良
HP:0005991: Limited neck flexion / 颈部屈曲受限
HP:0005994: Nodular goiter / 结节性甲状腺肿
HP:0005995: Decreased adipose tissue around neck / 颈部脂肪组织减少
HP:0005997: Neck joint contracture / 颈部关节挛缩
HP:0005999: Ureteral atresia / 输尿管闭锁
HP:0006000: Ureteral obstruction / 输尿管梗阻
HP:0006006: Hypotrophy of the small hand muscles / 手部小肌肉发育不良
HP:0006008: Unilateral brachydactyly / 单侧短指（趾）
HP:0006009: Broad phalanx / 指（趾）骨增宽
HP:0006011: Cuboidal metacarpal / 骰子形掌骨
HP:0006012: Widened metacarpal shaft / 掌骨干增宽
HP:0006014: Abnormally shaped carpal bones / 腕骨形状异常
HP:0006016: Delayed phalangeal epiphyseal ossification / 指骨骨骺骨化延迟
HP:0006019: Reduced proximal interphalangeal joint space / 近端指间关节间隙减小
HP:0006026: Rounded epiphyses / 球形骨骺
HP:0006028: Metaphyseal cupping of metacarpals / 掌骨杯状干骺端
HP:0006035: Cone-shaped epiphyses of phalanges 2 to 5 / 第二-第五指指骨锥形骨骺
HP:0006040: Long second metacarpal / 第二掌骨过长
HP:0006042: Y-shaped metacarpals / Y形掌骨
HP:0006045: Short pointed phalanges / 短尖指（趾）骨
HP:0006048: Distal widening of metacarpals / 掌骨远端增宽
HP:0006051: Metacarpal periosteal thickening / 掌骨骨膜增厚
HP:0006055: Ulnar deviated club hands / 向尺骨偏离的曲棍球棒样手
HP:0006059: Cone-shaped metacarpal epiphyses / 掌骨锥形骨骺
HP:0006060: Tombstone-shaped proximal phalanges / 墓碑形近端指（趾）骨
HP:0006064: Limited interphalangeal movement / 指间运动受限
HP:0006067: Multiple carpal ossification centers / 腕骨多骨化中心
HP:0006070: Metacarpophalangeal joint contracture / 掌指关节挛缩
HP:0006077: Absent proximal finger flexion creases / 手指近端屈曲褶痕缺如
HP:0006086: Thin metacarpal cortices / 掌骨皮质变薄
HP:0006088: 1-5 finger complete cutaneous syndactyly / 五个手指完全皮肤性并指
HP:0006089: Palmar hyperhidrosis / 出汗不良性湿疹
HP:0006092: Malaligned carpal bone / 腕骨错位
HP:0006094: Finger joint hypermobility / 指关节活动过度
HP:0006095: Wide tufts of distal phalanges / 远端指骨束增宽
HP:0006097: 3-4 finger syndactyly / 第三-四指并指
HP:0006099: Metacarpophalangeal joint hyperextensibility / 掌指关节伸展过度
HP:0006101: Finger syndactyly / 手指并指
HP:0006106: Absent trapezoid bone / 小多角骨缺如
HP:0006107: Fingerpad telangiectases / 指垫毛细血管扩张
HP:0006108: Tapered metacarpals / 锥形掌骨
HP:0006109: Absent phalangeal crease / 指节间皮肤折痕缺如
HP:0006110: Shortening of all middle phalanges of the fingers / 所有中节指骨缩短
HP:0006112: Expanded phalanges with widened medullary cavities / 髓腔加宽型指（趾）骨膨大
HP:0006114: Multiple palmar creases / 多掌褶
HP:0006118: Shortening of all distal phalanges of the fingers / 手指的所有远端指骨缩短
HP:0006119: Proximal tapering of metacarpals / 掌骨近端逐渐变细
HP:0006121: Acral ulceration / 肢端溃疡
HP:0006127: Long proximal phalanx of finger / 近节指骨修长
HP:0006129: Drumstick terminal phalanges / 鼓槌状末节指（趾）骨
HP:0006134: Enlarged metacarpal epiphyses / 掌骨骨骺膨大
HP:0006135: Decreased finger mobility / 手指灵活度下降
HP:0006136: Bilateral postaxial polydactyly / 双侧轴后性多指/趾
HP:0006140: Premature fusion of phalangeal epiphyses / 指骨骨骺过早融合
HP:0006143: Abnormal finger flexion creases / 手指屈曲褶痕异常
HP:0006144: Shortening of all proximal phalanges of the fingers / 近节指骨全部缩短
HP:0006145: Central Y-shaped metacarpal / 中央Y形掌骨
HP:0006146: Broad metacarpal epiphyses / 掌骨骨骺变宽
HP:0006147: Progressive fusion 2nd-5th pip joints / 进行性第二-五指间关节融合
HP:0006149: Increased laxity of fingers / 手指过度松弛
HP:0006150: Swan neck-like deformities of the fingers / 手指天鹅颈样畸形
HP:0006152: Proximal symphalangism of hands / 近端指间关节融合
HP:0006153: Disharmonious carpal bone / 腕骨不契合
HP:0006155: Long phalanx of finger / 长指骨
HP:0006156: Ulnar deviation of thumb / 拇指向尺侧偏斜
HP:0006157: Prominent palmar flexion creases / 突出的掌屈折痕
HP:0006159: Mesoaxial hand polydactyly / 中轴多指畸形
HP:0006160: Irregular metacarpals / 不规则掌骨
HP:0006161: Short metacarpals with rounded proximal ends / 近端圆形的短掌骨
HP:0006162: Soft tissue swelling of interphalangeal joints / 指关节间软组织肿胀
HP:0006163: Enlarged metacarpophalangeal joints / 掌指关节膨大
HP:0006165: Proportionate shortening of all digits / 所有指（趾）等比缩短
HP:0006166: Tubular metacarpal bones / 管状掌骨
HP:0006167: Prominent proximal interphalangeal joints / 膨大的近端指间关节
HP:0006169: Decreased mobility 3rd-5th fingers / 第三至第五指灵活度降低
HP:0006170: Chess-pawn distal phalanges / 国际象棋棋子状的远端指骨
HP:0006172: Flattened, squared-off epiphyses of tubular bones / 扁平、方形的管状骨骨骺
HP:0006174: Metacarpal diaphyseal endosteal sclerosis / 掌骨骨干骨内膜硬化
HP:0006175: Proximal phalangeal periosteal thickening / 近节指（趾）骨骨膜增厚
HP:0006176: Two carpal ossification centers present at birth / 先天性腕骨双骨化中心
HP:0006179: Pseudoepiphyses of second metacarpal / 第二掌骨假骨骺
HP:0006180: Crowded carpal bones / 腕骨拥挤
HP:0006184: Decreased palmar creases / 掌纹减少
HP:0006185: Enlarged proximal interphalangeal joints / 近端指间关节增大
HP:0006189: Prominent interdigital folds / 指（趾）间褶皱突出
HP:0006190: Radially deviated wrists / 手腕径向偏离
HP:0006191: Deep palmar crease / 掌褶纹深
HP:0006192: Tapered phalanx of finger / 锥形指骨
HP:0006193: Thimble-shaped middle phalanges of hand / 顶针状中节指骨
HP:0006200: Widened distal phalanges / 远端指骨增宽
HP:0006201: Hypermobility of distal interphalangeal joints / 远端指(趾)间关节活动过度
HP:0006202: Osteolysis of scaphoids / 舟状骨溶骨
HP:0006203: Decreased movement range in interphalangeal joints / 指间关节活动范围减小
HP:0006205: Irregular phalanges / 不规则指骨
HP:0006206: Hypersegmentation of proximal phalanx of second finger / 第二指近节指骨分节过多
HP:0006207: Partial fusion of carpals / 腕骨部分融合
HP:0006208: Metaphyseal cupping of proximal phalanges / 近节指骨杯状干骺端
HP:0006209: Partial-complete absence of 5th phalanges / 第五指指骨部分或完全缺如
HP:0006210: Postaxial oligodactyly / 轴后少指（趾）
HP:0006213: Thin proximal phalanges with broad epiphyses of the hand / 近端指骨变薄而骨骺增宽
HP:0006216: Single interphalangeal crease of fifth finger / 第五指单个皮褶
HP:0006217: Limited mobility of proximal interphalangeal joint / 近端指（趾）间关节活动受限
HP:0006224: Tapering pointed ends of distal finger phalanges / 手指远端指骨末端尖细
HP:0006226: Osteoarthritis of the first carpometacarpal joint / 第一腕掌关节骨性关节炎
HP:0006228: Valgus hand deformity / 外翻手变形
HP:0006230: Unilateral oligodactyly / 单侧缺指（趾）
HP:0006232: Expanded metacarpals with widened medullary cavities / 髓质腔加宽型掌骨膨大
HP:0006233: Osteoarthritis of the distal interphalangeal joint / 远端指（趾）间关节骨性关节炎
HP:0006234: Osteolysis involving tarsal bones / 跗骨骨质溶解
HP:0006236: Slender metacarpals / 掌骨修长
HP:0006237: Prominent interphalangeal joints / 指（趾）间关节突出
HP:0006239: Shortening of all middle phalanges of the toes / 所有中节趾骨缩短
HP:0006243: Phalangeal dislocation / 指（趾）骨错位
HP:0006247: Enlarged interphalangeal joints / 指（趾）间关节膨大
HP:0006248: Limited wrist movement / 腕部运动受限
HP:0006251: Limited wrist extension / 伸腕受限
HP:0006252: Interphalangeal joint erosions / 指（趾）间关节侵蚀
HP:0006253: Swelling of proximal interphalangeal joints / 近端指（趾）关节肿胀
HP:0006254: Elevated alpha-fetoprotein / α-甲胎蛋白升高
HP:0006256: Abnormality of hand joint mobility / 手关节活动度异常
HP:0006257: Abnormality of carpal bone ossification / 腕骨骨化异常
HP:0006261: Abnormal phalangeal joint morphology of the hand / 指（趾）骨关节形态异常
HP:0006262: Aplasia/Hypoplasia of the 5th finger / 第五指发育不良/发育不全
HP:0006263: Abnormality of the epiphyses of the 2nd finger / 第二指骨骺异常
HP:0006264: Aplasia/Hypoplasia of the 2nd finger / 第二指发育不良/发育不全
HP:0006265: Aplasia/Hypoplasia of fingers / 手指发育不良/发育不全
HP:0006266: Small placenta / 小胎盘
HP:0006267: Large placenta / 大胎盘
HP:0006268: Fluctuating splenomegaly / 间歇性脾肿大
HP:0006270: Hypoplastic spleen / 脾脏发育不全
HP:0006273: Pancreatic lymphangiectasis / 胰腺淋巴管扩张
HP:0006274: Reduced pancreatic beta cells / 胰腺β细胞减少
HP:0006276: Hyperechogenic pancreas / 胰腺高回声
HP:0006277: Pancreatic hyperplasia / 胰腺增生
HP:0006278: Ectopic pancreatic tissue / 胰腺组织异位
HP:0006279: Beta-cell dysfunction / β细胞功能障碍
HP:0006280: Chronic pancreatitis / 慢性胰腺炎
HP:0006282: Generalized hypoplasia of dental enamel / 广泛性牙釉质发育不全
HP:0006283: Multiple unerupted teeth / 多个未萌出牙
HP:0006285: Enamel hypomineralization / 牙釉质矿化不足
HP:0006286: Yellow-brown discoloration of the teeth / 棕黄色牙
HP:0006288: Advanced eruption of teeth / 牙齿过早萌出
HP:0006289: Agenesis of central incisor / 中切牙发育不全
HP:0006290: Discolored lateral incisors / 侧切牙变色
HP:0006291: Marked delay in eruption of permanent teeth / 恒牙萌出明显延迟
HP:0006292: Abnormality of dental eruption / 牙萌出异常
HP:0006293: Agenesis of maxillary central incisor / 上颌中切牙发育不全
HP:0006297: Enamel hypoplasia / 牙釉质发育不全
HP:0006298: Prolonged bleeding after dental extraction / 拔牙后出血时间延长
HP:0006302: Dagger-shaped pulp calcifications / 匕首状牙髓钙化
HP:0006304: Widely-spaced incisors / 切牙间隙过宽
HP:0006308: Atrophy of alveolar ridges / 牙槽嵴萎缩
HP:0006311: Generalized microdontia / 泛发性小牙畸形
HP:0006313: Widely spaced primary teeth / 乳牙间隙增宽
HP:0006315: Solitary median maxillary central incisor / 单个上门齿
HP:0006316: Irregularly spaced teeth / 牙齿间隔不规则
HP:0006321: Multiple non-erupting secondary teeth / 多个恒牙不萌发
HP:0006323: Premature loss of primary teeth / 乳牙过早脱落
HP:0006326: Buried teeth encased in mucopolysaccharide / 粘多糖贮积症致埋伏牙
HP:0006329: Alveolar process hypoplasia / 牙槽突发育不全