TaoMedAI/RareMedData huggingface dataset:
HP:0003892: Absent humeral epiphyseal ossification / 肱骨骨骺骨化缺如
HP:0003893: Advanced ossification of the humeral epiphysis / 肱骨骨骺骨化过早
HP:0003894: Delayed humeral epiphyseal ossification / 肱骨骨骺骨化延迟
HP:0003895: Flattened humeral epiphyses / 肱骨骨骺扁平
HP:0003896: Irregular humeral epiphyses / 肱骨骨骺不规则
HP:0003897: Irregular ossification of the humeral epiphyses / 肱骨骨骺不规则骨化
HP:0003898: Large humeral epiphyses / 大肱骨骨骺
HP:0003899: Round humeral epiphyses / 圆形肱骨骨骺
HP:0003900: Small humeral epiphyses / 小肱骨骨骺
HP:0003901: Stippled calcification of the humeral epiphyses / 肱骨骨骺点状钙化
HP:0003902: Epiphyseal stippling of the humerus / 肱骨骨骺斑点化
HP:0003903: Broad humeral epiphyses / 宽肱骨骨骺
HP:0003904: Wide epiphyses of the upper limbs / 上肢骨骺增宽
HP:0003905: Abnormality of the humeral epiphyseal plate / 肱骨骨骺板异常
HP:0003906: Broad humeral epiphyseal plate / 宽肱骨骨骺板
HP:0003907: Abnormal humeral metaphysis morphology / 肱骨干骺端形态异常
HP:0003908: Corner fracture of metaphysis / 干骺端角骨折
HP:0003909: Cortical subperiosteal resorption of humeral metaphyses / 肱骨干骺端皮质骨膜下吸收
HP:0003910: Enlarged humeral metaphyses / 肱骨干骺端膨大
HP:0003911: Flared humeral metaphysis / 喇叭状肱骨干骺端
HP:0003912: Frayed humeral metaphyses / 肱骨干骺端磨损
HP:0003913: Humeral metaphyseal irregularity / 肱骨干骺端不规则
HP:0003914: Irregular ossification of humeral metaphyses / 肱骨干骺端不规则骨化
HP:0003915: Lytic defects of the humeral metaphysis / 肱骨干骺端溶骨缺陷
HP:0003916: Normal-density transverse humeral bands / 正常密度肱骨横带
HP:0003917: Pointed humeral metaphysis / 肱骨干骺端突出
HP:0003918: Sclerotic humeral metaphysis / 肱骨干骺端硬化
HP:0003919: Sclerotic humeral metaphysis with longitudinal striations / 肱骨干骺端硬化并有纵纹
HP:0003920: Sloping humeral metaphysis / 肱骨干骺端倾斜
HP:0003921: Laterally sloping humeral metaphysis / 肱骨干骺端横向倾斜
HP:0003922: Spurred humeral metaphysis / 肱骨干骺端骨刺
HP:0003923: Square humeral metaphysis / 肱骨方形干骺端
HP:0003924: Stippled calcification of humeral metaphysis / 肱骨干骺端点状钙化
HP:0003926: Abnormal humeral diaphysis morphology / 肱骨骨干形态异常
HP:0003927: Cortical irregularity of humeral diaphysis / 肱骨骨干不规则皮质
HP:0003928: Cortical thickening of humeral diaphysis / 肱骨骨干皮质增厚
HP:0003929: Ground glass opacity of humeral diaphysis / 肱骨骨干磨砂玻璃样观
HP:0003930: Lytic defects of humeral diaphysis / 肱骨骨干溶骨缺陷
HP:0003931: Periosteal new bone of humeral diaphysis / 肱骨骨干骨膜新骨
HP:0003932: Sclerotic foci of humeral diaphysis / 肱骨骨干硬化灶
HP:0003933: Sclerosis of humeral diaphysis / 肱骨骨干硬化
HP:0003934: Slender humeral diaphysis / 肱骨干修长
HP:0003935: Wide humeral diaphysis / 肱骨宽骨干
HP:0003938: Synostosis involving the elbow / 肘部骨性融合
HP:0003939: Humeroulnar synostosis / 肱尺骨性融合
HP:0003940: Osteoarthritis of the elbow / 肘关节骨性关节炎
HP:0003941: Stippled calcification of the elbow / 肘关节点状钙化
HP:0003942: Synovial chondromatosis of the elbow / 肘关节滑膜软骨瘤病
HP:0003943: Abnormality of the joint spaces of the elbow / 肘关节关节间隙异常
HP:0003944: Narrow joint spaces of the elbow / 肘关节腔狭窄
HP:0003945: Irregular articular surfaces of the elbow joints / 肘关节不规则关节面
HP:0003946: Abnormality of the epiphyses of the elbow / 肘部骨骺异常
HP:0003947: Delayed elbow epiphyseal ossification / 肘关节骨骺骨化延迟
HP:0003948: Irregular epiphyses of the elbow / 肘关节骨骺不规则
HP:0003949: Abnormal elbow metaphysis morphology / 肘部干骺端形态异常
HP:0003950: Flared elbow metaphyses / 喇叭状肘部干骺端
HP:0003951: Distal humeral metaphyseal irregularity / 肱骨远端干骺端不规则
HP:0003952: Sclerotic foci of metaphyses of the elbow / 肘关节干骺端硬化灶
HP:0003953: Absent forearm bone / 前臂骨缺如
HP:0003954: Angulated forearm bones / 前臂骨成角畸形
HP:0003955: Bone-in-a-bone appearance of forearm / 前臂骨中骨外观
HP:0003956: Bowed forearm bones / 前臂骨弯曲
HP:0003957: Cortical thickening of the forearm bones / 前臂骨皮质增厚
HP:0003958: Cross-fusion of the forearm bones / 前臂骨交叉融合
HP:0003959: Deformed forearm bones / 前臂骨变形
HP:0003960: Exostoses of the forearm bones / 前臂骨外生骨疣
HP:0003961: Fractured forearm bones / 前臂骨骨折
HP:0003963: Lytic defects of the forearm bones / 前臂骨溶骨缺陷
HP:0003964: Osteoporotic forearm bones / 前臂骨骨质疏松
HP:0003965: Pseudarthrosis of the forearm bones / 前臂骨假关节
HP:0003966: Sclerotic foci in forearm bones / 前臂骨骼硬化灶
HP:0003967: Sclerotic forearm bones / 前臂骨硬化
HP:0003969: Slender forearm bones / 纤细的前臂骨
HP:0003970: Undermodelled forearm bones / 未成形的前臂骨骼
HP:0003971: Broad forearm bones / 宽前臂骨
HP:0003973: Wide radioulnar joints / 尺桡关节增宽
HP:0003974: Absent radius / 桡骨缺如
HP:0003976: Constricted radius / 桡骨收缩
HP:0003977: Deformed radius / 桡骨变形
HP:0003978: Fractured radius / 骨折后的桡骨
HP:0003979: Lytic defects of the radius / 桡骨溶骨缺陷
HP:0003980: Pseudarthrosis of the radius / 桡骨假关节
HP:0003981: Broad radius / 宽桡骨
HP:0003982: Aplasia of the ulna / 尺骨缺如
HP:0003984: Posteriorly dislocated ulna / 尺骨后脱位
HP:0003985: Exostoses of the ulna / 尺骨外生骨疣
HP:0003986: Exostoses of the radius / 桡骨外生骨疣
HP:0003987: Fractured ulna / 骨折后的尺骨
HP:0003988: Long ulna / 长尺骨
HP:0003989: Notched ulna / 锯齿状尺骨
HP:0003990: Pointed ulna / 尖尺骨
HP:0003991: Osteosclerosis of the ulna / 尺骨骨硬化
HP:0003992: Slender ulna / 长尺骨
HP:0003993: Broad ulna / 宽尺骨
HP:0003994: Dislocated wrist / 手腕脱臼
HP:0003995: Abnormality of the radial head / 桡骨小头异常
HP:0003996: Flattened radial head / 桡骨小头扁平
HP:0003997: Hypoplastic radial head / 桡骨头发育不全
HP:0003998: Constricted radial neck / 桡骨颈狭窄
HP:0003999: Abnormality of radial epiphyses / 桡骨骨骺异常
HP:0004000: Cone-shaped distal radial epiphysis / 桡骨远端锥形骨骺
HP:0004001: Medially deficient radial epiphyses / 桡骨骨骺中位缺陷
HP:0004002: Flattened radial epiphyses / 桡骨骨骺扁平
HP:0004003: Medially flattened radial epiphyses / 桡骨骨骺中位扁平
HP:0004004: Irregular radial epiphyses / 桡骨骨骺不规则
HP:0004005: Large radial epiphyses / 桡骨骨骺较大
HP:0004006: Round radial epiphyses / 圆形桡骨骨骺
HP:0004007: Sclerotic radial epiphyses / 桡骨骨骺硬化
HP:0004008: Sloping radial epiphyses / 桡骨骨骺倾斜
HP:0004009: Medially sloping radial epiphyses / 桡骨骨骺中位倾斜
HP:0004010: Small radial epiphyses / 桡骨骨骺小
HP:0004012: Premature fusion of the radial epiphyseal plates / 桡骨骨骺板过早融合
HP:0004013: Medially fused radial epiphyseal plates / 桡骨骨骺板中部融合
HP:0004014: Broad radial epiphyseal plate / 桡骨骨骺板变宽
HP:0004015: Abnormal radial metaphysis morphology / 桡骨干骺端形态异常
HP:0004016: Cupped radial metaphyses / 杯状桡骨干骺端
HP:0004017: Exostoses of the radial metaphysis / 桡骨干骺端外生骨疣
HP:0004018: Flared radial metaphysis / 桡骨喇叭状干骺端
HP:0004019: Radial metaphyseal irregularity / 桡骨干骺端不规则
HP:0004020: Irregular ossification of the radial metaphysis / 桡骨干骺端不规则骨化
HP:0004021: Lytic defects of radial metaphysis / 桡骨干骺端溶骨性缺陷
HP:0004022: Sclerotic radial metaphysis with longitudinal striations / 桡骨干骺端硬化有纵纹
HP:0004023: Sloping radial metaphysis / 桡骨干骺端倾斜
HP:0004024: Medially sloping radial metaphysis / 桡骨干骺端中位倾斜
HP:0004025: Spurred radial metaphysis / 桡骨干骺端骨刺
HP:0004026: Broad radial metaphysis / 桡骨干骺端变宽
HP:0004027: Abnormality of radial diaphysis / 桡骨骨干异常
HP:0004028: Spurs of radial diaphysis / 桡骨骨干骨刺
HP:0004029: Lytic defects of radial diaphysis / 桡骨干溶骨性缺陷
HP:0004030: Patchy sclerosis of radial diaphysis / 桡骨骨干的斑状硬化
HP:0004031: Broad radial diaphysis / 桡骨骨干变宽
HP:0004032: Abnormal olecranon morphology / 鹰嘴形态异常
HP:0004033: Curved olecranon / 鹰嘴骨弯曲
HP:0004034: Irregular olecranon / 鹰嘴骨不规则
HP:0004035: Abnormal ulnar styloid process morphology / 尺骨茎突形态异常
HP:0004036: Long styloid process of ulna / 尺骨茎突变长
HP:0004037: Abnormal ulnar epiphysis morphology / 尺骨骨骺形态异常
HP:0004039: Abnormal ulnar metaphysis morphology / 尺骨干骺端形态异常
HP:0004040: Corner fragments of ulnar metaphysis / 尺骨干骺端角碎片
HP:0004041: Cupped ulnar metaphysis / 杯状尺骨干骺端
HP:0004042: Ulnar metaphyseal irregularity / 尺骨干骺端不规则
HP:0004043: Lytic defects of ulnar metaphysis / 尺骨干骺端溶骨性缺陷
HP:0004044: Pointed ulnar metaphysis / 尖尺骨干骺端
HP:0004045: Sloping ulnar metaphysis / 尺骨干骺端倾斜
HP:0004046: Spurred ulnar metaphysis / 尺骨干骺端骨刺
HP:0004047: Wide ulnar metaphysis / 尺骨干骺端增宽
HP:0004048: Narrow joint spaces of wrist / 腕关节间隙狭窄
HP:0004049: Decreased carpal angles of wrist / 腕角减小
HP:0004050: Absent hand / 手缺如
HP:0004051: Advanced ossification of the hand bones / 手部骨骼骨化过早
HP:0004052: Delayed ossification of the hand bones / 手骨骨化延迟
HP:0004053: Dysharmonic maturation of the hand bones / 手部骨骼成熟不平衡
HP:0004054: Sclerosis of hand bone / 手骨硬化症
HP:0004057: Mitten deformity / 连指手套状并指
HP:0004058: Hand monodactyly / 独指手
HP:0004059: Radial club hand / 桡偏畸形手
HP:0004060: Trident hand / 三叉手
HP:0004095: Curved fingers / 手指弯曲
HP:0004097: Deviation of finger / 手指偏离
HP:0004099: Macrodactyly / 巨指
HP:0004100: Abnormal 2nd finger morphology / 第二指形态异常
HP:0004112: Midline nasal groove / 鼻中线浅沟
HP:0004122: Midline defect of the nose / 鼻中线缺陷
HP:0004132: Dimple on nasal tip / 鼻尖隐窝
HP:0004150: Abnormal 3rd finger morphology / 第三指形态异常
HP:0004172: Abnormality of the middle phalanx of the 3rd finger / 第三指中节指骨异常
HP:0004180: Short distal phalanx of the 3rd finger / 第三指末节指骨过短
HP:0004188: Abnormal 4th finger morphology / 第四指异常
HP:0004195: Osteolytic defects of the phalanges of the 4th finger / 第四指指骨溶骨性缺陷
HP:0004197: Symphalangism of the 4th finger / 第四指指骨融合
HP:0004207: Abnormal 5th finger morphology / 第五指异常
HP:0004209: Clinodactyly of the 5th finger / 第五指屈指畸形
HP:0004213: Abnormal 5th finger phalanx morphology / 第五指指骨异常
HP:0004214: Curved phalanges of the 5th finger / 第五指指骨弯曲
HP:0004216: Osteolytic defects of the phalanges of the 5th finger / 第五指指骨溶骨性缺陷
HP:0004218: Symphalangism of the 5th finger / 第五指指关节融合
HP:0004219: Abnormality of the middle phalanx of the 5th finger / 第五指中节指骨异常
HP:0004220: Short middle phalanx of the 5th finger / 第五指中节指骨短
HP:0004222: Cone-shaped epiphysis of the distal phalanx of the 5th finger / 第五指末节指骨锥形骨骺
HP:0004223: Ivory epiphysis of the distal phalanx of the 5th finger / 第五指的末节指骨乳白色骨骺
HP:0004224: Abnormality of the epiphysis of the middle phalanx of the 5th finger / 第五指中节指骨骨骺异常
HP:0004225: Abnormality of the distal phalanx of the 5th finger / 第五指末节指骨异常
HP:0004226: Curved distal phalanx of the 5th finger / 第五指末节指骨弯曲
HP:0004227: Short distal phalanx of the 5th finger / 第五指末节指骨短
HP:0004230: Subluxation of the proximal interphalangeal joint of the little finger / 第五指近端指间关节半脱位
HP:0004231: Carpal bone aplasia / 腕骨发育不全
HP:0004232: Accessory carpal bones / 副腕骨
HP:0004233: Advanced ossification of carpal bones / 腕骨骨化过早
HP:0004234: Bone-in-a-bone appearance of carpal bones / 腕骨骨中骨外观
HP:0004235: Comma-shaped carpal bones / 逗点状腕骨
HP:0004236: Irregular carpal bones / 不规则腕骨
HP:0004237: Large carpal bones / 大腕骨
HP:0004238: Lytic defects of carpal bones / 腕骨溶骨缺陷
HP:0004239: Proximally placed carpal bones / 近置腕骨
HP:0004240: Sclerotic foci within carpal bones / 腕骨内硬化灶
HP:0004241: Stippled calcification in carpal bones / 腕骨点状钙化
HP:0004242: Broad carpal bones / 腕骨变宽
HP:0004243: Abnormality of the scaphoid / 舟骨异常
HP:0004244: Accessory scaphoid / 副舟骨
HP:0004245: Comma-shaped scaphoid / 逗号状舟状骨
HP:0004246: Delayed ossification of the scaphoid / 舟骨骨化延迟
HP:0004247: Small scaphoid / 舟状骨小
HP:0004248: Abnormality of the lunate bone / 月骨异常
HP:0004249: Accessory lunate / 副月骨
HP:0004250: Proximally placed lunate / 近置月骨
HP:0004251: Lunate-triquetral fusion / 月骨-三角骨融合
HP:0004252: Abnormality of the trapezium / 大多角骨异常
HP:0004253: Absent trapezium / 大多角骨缺如
HP:0004254: Delayed ossification of the trapezium / 斜方骨骨化延迟
HP:0004255: Small trapezium / 斜方骨小
HP:0004256: Abnormality of the trapezoid bone / 小多角骨异常
HP:0004257: Delayed ossification of the trapezoid bone / 棱形骨骨化延迟
HP:0004258: Small trapezoid bone / 斜方骨小
HP:0004259: Abnormality of the hamate bone / 钩骨异常
HP:0004260: Large hamate bone / 大钩骨
HP:0004261: Wide hamate bone / 钩骨增宽
HP:0004262: Abnormality of the capitate bone / 头状骨异常
HP:0004263: Large capitate bone / 大头状骨
HP:0004264: Narrow carpal joint spaces / 腕关节间隙狭窄
HP:0004267: Narrow small joints of the hand / 手的小关节狭窄
HP:0004268: Osteoarthritis of the small joints of the hand / 手的小关节的骨关节炎
HP:0004269: Subluxation of the small joints of the hand / 手的小关节脱位
HP:0004271: Cortical thickening of hand bones / 手骨骨皮质增厚
HP:0004272: Cortical thinning of hand bones / 手骨骨皮质变薄
HP:0004273: Cupped metaphyses of hand bones / 手骨杯状干骺端
HP:0004274: Deficient ossification of hand bones / 手骨骨化缺陷
HP:0004275: Duplication of hand bones / 手骨重复
HP:0004276: Exostoses of hand bones / 手骨外生骨疣
HP:0004277: Fractured hand bones / 手骨骨折
HP:0004278: Synostosis involving bones of the hand / 累及手骨的骨融合
HP:0004279: Short palm / 短掌
HP:0004280: Irregular ossification of hand bones / 手骨不规则骨化
HP:0004281: Irregular sclerosis of hand bones / 手骨不规则硬化
HP:0004283: Narrow palm / 手掌狭窄
HP:0004284: Notched hand bones / 手骨头缺口
HP:0004285: Overmodelled hand bones / 手骨过度成形
HP:0004286: Patchy sclerosis of hand bones / 手骨斑片状硬化
HP:0004287: Pointed hand bones / 尖头手骨
HP:0004288: Pseudoepiphyses of hand bones / 手骨假骨骺
HP:0004289: Sclerotic foci in hand bones / 手骨硬化灶
HP:0004290: Sclerosis of hand bones with transverse striations / 手骨硬化伴横纹
HP:0004291: Stippled calcification of hand bones / 手部骨骼点状钙化
HP:0004292: Undermodelled hand bones / 未成形手部骨骼
HP:0004293: Synostosis of second metacarpal-trapezoid / 第二掌骨-小多角骨骨融合
HP:0004294: Subluxation of metacarpal phalangeal joints / 掌骨指骨关节半脱位
HP:0004295: Abnormal gastric mucosa morphology / 胃黏膜形态异常
HP:0004296: Abnormal gastrointestinal vascular morphology / 胃肠血管形态异常
HP:0004297: Abnormality of the biliary system / 胆道系统异常
HP:0004298: Abnormality of the abdominal wall / 腹壁异常
HP:0004299: Hernia of the abdominal wall / 腹壁疝
HP:0004302: Functional motor deficit / 功能性运动障碍
HP:0004303: Abnormal muscle fiber morphology / 肌纤维形态异常
HP:0004305: Involuntary movements / 不自主运动
HP:0004306: Abnormal endocardium morphology / 心内膜形态异常
HP:0004307: Abnormal anatomic location of the heart / 心脏解剖位置异常
HP:0004308: Ventricular arrhythmia / 室性心律失常
HP:0004309: Ventricular preexcitation / 心室预激
HP:0004311: Abnormal macrophage morphology / 巨噬细胞形态异常
HP:0004312: Abnormal reticulocyte morphology / 网织红细胞形态异常
HP:0004313: Decreased circulating antibody level / 循环抗体水平降低
HP:0004315: Decreased circulating IgG level / 循环IgG水平降低
HP:0004319: Decreased circulating aldosterone level / 醛固酮减少症
HP:0004320: Vaginal fistula / 阴道瘘
HP:0004321: Bladder fistula / 膀胱瘘管
HP:0004322: Short stature / 身材矮小
HP:0004323: Abnormality of body weight / 体重异常
HP:0004324: Increased body weight / 体重增加
HP:0004325: Decreased body weight / 体重下降
HP:0004326: Cachexia / 恶病质
HP:0004327: Abnormal vitreous humor morphology / 玻璃体异常
HP:0004328: Abnormal anterior eye segment morphology / 眼前段形态异常
HP:0004329: Abnormal posterior eye segment morphology / 眼后段形态异常
HP:0004330: Increased skull ossification / 颅骨骨化增加
HP:0004331: Decreased skull ossification / 颅骨骨化减少
HP:0004332: Abnormal lymphocyte morphology / 淋巴细胞形态异常
HP:0004333: Bone-marrow foam cells / 骨髓泡沫细胞
HP:0004334: Dermal atrophy / 皮肤萎缩
HP:0004336: Myelin outfoldings / 髓鞘外折
HP:0004337: Abnormality of amino acid metabolism / 氨基酸代谢异常
HP:0004338: Abnormal circulating aromatic amino acid concentration / 芳香氨基酸族代谢异常
HP:0004339: Abnormal circulating sulfur amino acid concentration / 含硫氨基酸代谢异常
HP:0004340: Abnormality of vitamin B metabolism / 维生素B代谢异常
HP:0004341: Abnormality of vitamin B12 metabolism / 维生素B12代谢异常
HP:0004342: Abnormality of galactoside metabolism / 半乳糖代谢异常
HP:0004343: Abnormal glycosphingolipid metabolism / 鞘糖脂代谢异常
HP:0004344: Abnormality of cerebrosidase metabolism / 脑苷酶代谢异常
HP:0004345: Ganglioside accumulation / 神经节苷脂代谢异常
HP:0004347: Weakness of muscles of respiration / 呼吸肌无力
HP:0004348: Abnormality of bone mineral density / 骨密度异常
HP:0004349: Reduced bone mineral density / 骨密度降低
HP:0004352: Abnormal circulating purine concentration / 嘌呤代谢异常
HP:0004353: Abnormal circulating pyrimidine concentration / 嘧啶代谢异常
HP:0004354: Abnormal circulating carboxylic acid concentration / 羧酸代谢异常
HP:0004356: Abnormality of lysosomal metabolism / 溶酶体代谢异常
HP:0004357: Abnormal circulating leucine concentration / 亮氨酸代谢异常
HP:0004358: Abnormality of superoxide metabolism / 过氧化物代谢异常
HP:0004359: Abnormal circulating fatty-acid concentration / 脂肪酸代谢异常
HP:0004360: Abnormality of acid-base homeostasis / 酸碱平衡异常
HP:0004361: Abnormality of circulating leptin level / 血瘦素水平异常
HP:0004362: Abnormality of enteric ganglion morphology / 肠神经节形态异常
HP:0004363: Abnormal circulating calcium concentration / 钙稳态平衡异常
HP:0004364: Abnormal circulating nitrogen compound concentration / 氮化合物稳态平衡异常
HP:0004365: Abnormal circulating tryptophan concentration / 色氨酸代谢异常
HP:0004366: Abnormality of glycolysis / 糖酵解异常
HP:0004368: Increased circulating purine concentration / 嘌呤含量增加
HP:0004369: Decreased circulating purine concentration / 嘌呤含量降低
HP:0004370: Abnormality of temperature regulation / 体温调节异常
HP:0004371: Abnormality of glycosaminoglycan metabolism / 粘多糖代谢异常
HP:0004372: Reduced consciousness/confusion / 意识减弱/意识错乱
HP:0004373: Focal dystonia / 局限性肌张力障碍
HP:0004374: Hemiplegia/hemiparesis / 偏瘫/轻偏瘫
HP:0004375: Neoplasm of the nervous system / 神经系统的肿瘤
HP:0004376: Neuroblastic tumor / 神经母细胞瘤
HP:0004377: Hematological neoplasm / 血液肿瘤
HP:0004378: Abnormality of the anus / 肛门异常
HP:0004379: Abnormality of alkaline phosphatase level / 碱性磷酸酶活性异常
HP:0004380: Aortic valve calcification / 主动脉瓣钙化
HP:0004381: Supravalvular aortic stenosis / 主动脉瓣上狭窄
HP:0004382: Mitral valve calcification / 二尖瓣钙化
HP:0004383: Hypoplastic left heart / 左心发育不全
HP:0004384: Type I truncus arteriosus / I型动脉干
HP:0004385: Protracted diarrhea / 迁延性腹泻
HP:0004386: Gastrointestinal inflammation / 胃肠道炎症
HP:0004387: Enterocolitis / 小肠结肠炎
HP:0004388: Microcolon / 细小结肠
HP:0004389: Intestinal pseudo-obstruction / 假性肠梗阻
HP:0004390: Hamartomatous polyposis / 错构瘤性息肉病
HP:0004392: Prune belly / 梅干腹
HP:0004394: Multiple gastric polyps / 多发性胃息肉
HP:0004395: Malnutrition / 营养不良
HP:0004396: Poor appetite / 食欲不振
HP:0004397: Ectopic anus / 肛门异位
HP:0004398: Peptic ulcer / 消化性溃疡
HP:0004399: Congenital pyloric atresia / 先天性幽门闭锁
HP:0004400: Abnormality of the pylorus / 幽门异常
HP:0004401: Meconium ileus / 胎粪性肠梗阻
HP:0004403: Proximal esophageal atresia / 近端食管闭锁
HP:0004404: Abnormal nipple morphology / 乳头形态异常
HP:0004405: Prominent nipples / 乳头凸出
HP:0004406: Spontaneous, recurrent epistaxis / 复发性自发鼻衄
HP:0004407: Bony paranasal bossing / 骨性鼻翼突起
HP:0004408: Abnormality of the sense of smell / 嗅觉异常
HP:0004409: Hyposmia / 嗅觉减退
HP:0004411: Deviated nasal septum / 鼻中隔偏曲
HP:0004414: Abnormality of the pulmonary artery / 肺动脉异常
HP:0004415: Pulmonary artery stenosis / 肺动脉狭窄
HP:0004416: Precocious atherosclerosis / 早发性动脉粥样硬化
HP:0004417: Intermittent claudication / 间歇性跛行
HP:0004418: Thrombophlebitis / 血栓性静脉炎
HP:0004419: Recurrent thrombophlebitis / 复发性血栓性静脉炎
HP:0004420: Arterial thrombosis / 动脉血栓形成
HP:0004421: Elevated systolic blood pressure / 收缩压升高
HP:0004422: Biparietal narrowing / 双侧顶骨部收窄
HP:0004423: Cranium bifidum occultum / 隐性颅裂
HP:0004425: Flat forehead / 额头扁平
HP:0004426: Abnormal cheek morphology / 面颊形态异常
HP:0004428: Elfin facies / 小精灵脸
HP:0004429: Recurrent viral infections / 反复病毒感染
HP:0004430: Severe combined immunodeficiency / 重症联合免疫缺陷
HP:0004431: Complement deficiency / 补体缺陷
HP:0004432: Agammaglobulinemia / 无丙种球蛋白血症
HP:0004433: Secretory IgA deficiency / 分泌型IgA缺乏症
HP:0004434: Decreased serum complement C8 / 血清补体C8降低
HP:0004437: Cranial hyperostosis / 颅骨骨质增生
HP:0004438: Hyperostosis frontalis interna / 额骨内板增生症
HP:0004439: Craniofacial dysostosis / 颅面骨发育不全
HP:0004440: Coronal craniosynostosis / 冠状缝早闭
HP:0004442: Sagittal craniosynostosis / 矢状缝早闭
HP:0004443: Lambdoidal craniosynostosis / 人字缝早闭
HP:0004444: Spherocytosis / 球形红细胞增多症
HP:0004445: Elliptocytosis / 椭圆形红细胞增多症
HP:0004446: Stomatocytosis / 口形红细胞增多症
HP:0004447: Poikilocytosis / 异形性红细胞
HP:0004448: Fulminant hepatic failure / 暴发性肝衰竭
HP:0004450: Preauricular skin furrow / 耳前皮肤皱褶
HP:0004451: Postauricular skin tag / 耳后皮赘
HP:0004452: Abnormality of the middle ear ossicles / 中耳听小骨异常
HP:0004453: Overfolding of the superior helices / 耳轮上部过度卷曲
HP:0004454: Abnormal middle ear reflexes / 中耳反射异常
HP:0004458: Dilatated internal auditory canal / 内听道扩大
HP:0004459: Exostosis of the external auditory canal / 外耳道外生骨疣
HP:0004461: Congenital earlobe sinuses / 先天性耳垂窦
HP:0004463: Absent brainstem auditory responses / 脑干听觉反应消失
HP:0004464: Postauricular pit / 耳后凹陷
HP:0004466: Prolonged brainstem auditory evoked potentials / 脑干听觉诱发电位延长
HP:0004467: Preauricular pit / 耳前凹陷
HP:0004468: Anomalous tracheal cartilage / 气管软骨异常
HP:0004469: Chronic bronchitis / 慢性支气管炎
HP:0004470: Atretic occipital cephalocele / 闭锁性枕部脑膨出
HP:0004471: Aplasia cutis congenita over the scalp vertex / 先天性头顶部表皮发育不全
HP:0004472: Mandibular hyperostosis / 下颌骨骨质增生
HP:0004474: Persistent open anterior fontanelle / 前囟持续不闭合
HP:0004476: Aplasia cutis congenita over parietal area / 先天性顶叶区表皮发育不全
HP:0004478: Ethmoidal encephalocele / 筛骨脑膨出
HP:0004481: Progressive macrocephaly / 渐进性大头畸形
HP:0004482: Relative macrocephaly / 相对大头畸形
HP:0004484: Craniofacial asymmetry / 颅面不对称
HP:0004485: Cessation of head growth / 头部生长停滞
HP:0004487: Acrobrachycephaly / 尖扁头畸形
HP:0004488: Macrocephaly at birth / 出生时巨头畸形
HP:0004490: Calvarial hyperostosis / 颅骨骨质增生
HP:0004491: Large posterior fontanelle / 大后囟
HP:0004492: Widely patent fontanelles and sutures / 前囟及颅缝宽大
HP:0004493: Craniofacial hyperostosis / 颅面骨骨质增生
HP:0004495: Thin anteverted nares / 薄而前仰的鼻孔
HP:0004499: Chronic rhinitis due to narrow nasal airway / 慢性狭窄性鼻炎
HP:0004502: Bilateral choanal atresia / 双侧后鼻孔闭锁
HP:0004510: Pancreatic islet-cell hyperplasia / 胰岛细胞增生
HP:0004523: Long eyebrows / 长眉
HP:0004524: Temporal hypotrichosis / 颞部少毛症
HP:0004527: Large clumps of pigment irregularly distributed along hair shaft / 沿发干不规则分布大片色素
HP:0004528: Generalized hypotrichosis / 泛发性少毛症
HP:0004529: Atrophic, patchy alopecia / 萎缩性斑片状脱发
HP:0004532: Sacral hypertrichosis / 骶骨多毛症
HP:0004535: Anterior cervical hypertrichosis / 颈前区多毛症
HP:0004540: Congenital, generalized hypertrichosis / 先天性全身多毛症
HP:0004552: Scarring alopecia of scalp / 头皮瘢痕性脱发
HP:0004554: Generalized hypertrichosis / 泛发性多毛症
HP:0004557: Anterior vertebral fusion / 椎体前缘融合
HP:0004558: Cervical platyspondyly / 扁平颈椎
HP:0004562: Beaking of vertebral bodies T12-L3 / T12-L3椎体鸟喙样改变
HP:0004563: Increased spinal bone density / 脊柱骨密度增加
HP:0004565: Severe platyspondyly / 重度扁平椎
HP:0004566: Pear-shaped vertebrae / 梨形椎骨
HP:0004568: Beaking of vertebral bodies / 椎体鸟喙样改变
HP:0004570: Increased vertebral height / 椎体高度增加
HP:0004571: Widening of cervical spinal canal / 颈椎椎管增宽
HP:0004573: Anterior wedging of T11 / 胸11椎体前部楔形
HP:0004575: Fusion of midcervical facet joints / 中段颈关节面融合
HP:0004576: Sclerotic vertebral endplates / 椎体终板硬化
HP:0004580: Anterior scalloping of vertebral bodies / 椎体前部扇形凹陷
HP:0004581: Increased anterior vertebral height / 椎体前缘增高
HP:0004582: Irregularity of vertebral bodies / 椎体不规则
HP:0004586: Biconcave vertebral bodies / 双凹椎体
HP:0004589: Dysplasia of second lumbar vertebra / 第二腰椎发育不良
HP:0004590: Hypoplastic sacrum / 骶骨发育不全
HP:0004591: Disc-like vertebral bodies / 盘碟状椎体
HP:0004592: Thoracic platyspondyly / 扁平胸椎
HP:0004594: Hump-shaped mound of bone in central and posterior portions of vertebral endplate / 椎体终板中后部骨质驼峰状凸起
HP:0004598: Supernumerary vertebral ossification centers / 额外椎体骨化中心
HP:0004599: Absent or minimally ossified vertebral bodies / 椎体缺如或低骨化
HP:0004601: Spina bifida occulta at L5 / L5区隐性脊柱裂
HP:0004602: Cervical C2/C3 vertebral fusion / 颈C2/C3椎体融合
HP:0004603: Hyperconvex vertebral body endplates / 椎体终板过度突出
HP:0004605: Absent vertebral body mineralization / 椎体矿化缺如
HP:0004606: Unossified vertebral bodies / 椎体未骨化
HP:0004607: Anterior beaking of lower thoracic vertebrae / 胸椎下部前缘鸟喙样凸出
HP:0004608: Anteriorly placed odontoid process / 齿状突前置
HP:0004609: Patchy distortion of vertebrae / 脊椎斑驳状变形
HP:0004610: Lumbar spinal canal stenosis / 腰椎管狭窄
HP:0004611: Anterior concavity of thoracic vertebrae / 胸椎前凹
HP:0004614: Spina bifida occulta at S1 / S1区隐性脊柱裂
HP:0004616: Cleft vertebral arch / 椎弓裂
HP:0004617: Butterfly vertebral arch / 蝴蝶椎弓
HP:0004618: Sandwich appearance of vertebral bodies / 三明治样椎体
HP:0004619: Lumbar kyphoscoliosis / 腰椎后侧凸
HP:0004621: Enlarged vertebral pedicles / 椎弓膨大
HP:0004622: Progressive intervertebral space narrowing / 椎间隙渐进性变窄
HP:0004625: Biconvex vertebral bodies / 双凸椎体
HP:0004626: Lumbar scoliosis / 腰椎侧凸
HP:0004629: Small cervical vertebral bodies / 颈椎椎体小
HP:0004630: Anterior beaking of thoracic vertebrae / 胸椎前缘鸟喙样凸出
HP:0004631: Decreased cervical spine flexion due to contractures of posterior cervical muscles / 颈后肌群挛缩致颈椎屈度下降
HP:0004632: Cervical segmentation defect / 颈椎分节缺陷
HP:0004633: Lower thoracic kyphosis / 下胸椎后凸
HP:0004634: Cuboid-shaped vertebral bodies / 立方体形椎体
HP:0004635: Cervical C5/C6 vertebrae fusion / 颈椎C5/C6椎骨融合
HP:0004637: Decreased cervical spine mobility / 颈椎活动度下降
HP:0004639: Elevated amniotic fluid alpha-fetoprotein / 羊水甲胎蛋白升高
HP:0004646: Hypoplasia of the nasal bone / 鼻骨发育不全
HP:0004660: Hypoplasia of facial musculature / 面部肌肉发育不全
HP:0004661: Frontalis muscle weakness / 额肌乏力