TaoMedAI/RareMedData huggingface dataset:
HP:0006330: Rotated maxillary central incisors / 螺旋形上颌中切牙
HP:0006332: Supernumerary maxillary incisor / 上颌骨多生中切牙
HP:0006333: Crowded maxillary incisors / 上颌切牙拥挤
HP:0006334: Hypoplasia of the primary teeth / 乳牙发育不全
HP:0006335: Persistence of primary teeth / 乳牙存留
HP:0006336: Short dental root / 短牙根
HP:0006337: Premature eruption of permanent teeth / 恒牙过早萌出
HP:0006338: Malformation of mandibular premolar / 下颌前臼齿（前磨牙）畸形
HP:0006339: Conical mandibular incisor / 锥状下切牙
HP:0006342: Peg-shaped maxillary lateral incisors / 钉形上颌侧切牙
HP:0006344: Abnormality of primary molar morphology / 乳臼齿形态异常
HP:0006346: Screwdriver-shaped incisors / 螺丝刀状门齿
HP:0006347: Microdontia of primary teeth / 小乳牙畸形
HP:0006349: Agenesis of permanent teeth / 恒牙发育不全
HP:0006350: Pulp obliteration / 牙髓腔闭塞
HP:0006352: Failure of eruption of permanent teeth / 恒牙萌出失败
HP:0006353: Hypoplasia of the tooth germ / 牙胚发育不全
HP:0006355: Agenesis of mandibular central incisor / 下颌中切牙发育不全
HP:0006357: Premature loss of permanent teeth / 恒牙过早脱落
HP:0006358: Shovel-shaped maxillary central incisors / 铲形上门齿
HP:0006361: Irregular femoral epiphysis / 股骨骨骺不规则
HP:0006362: Varus deformity of humeral neck / 肱骨颈内翻畸形
HP:0006366: Adductor longus contractures / 内收长肌挛缩
HP:0006367: Crumpled long bones / 褶皱性长骨
HP:0006368: Forearm reduction defects / 前臂缩小缺陷
HP:0006369: Irregular patellae / 不规则髌骨
HP:0006370: Distal ulnar epiphyseal stippling / 尺骨远端骨骺点状钙化
HP:0006371: Broad long bone diaphyses / 长骨骨干变宽
HP:0006375: Dumbbell-shaped femur / 哑铃状股骨
HP:0006376: Limited elbow flexion / 屈肘受限
HP:0006378: Osteolysis of patellae / 髌骨骨溶解
HP:0006379: Proximal tibial hypoplasia / 胫骨近端发育不全
HP:0006380: Knee flexion contracture / 膝关节屈曲挛缩
HP:0006381: Rudimentary fibula / 腓骨发育不良
HP:0006383: Progressive bowing of long bones / 长骨进行性弯曲
HP:0006384: Club-shaped distal femur / 棒状股骨远端
HP:0006385: Short lower limbs / 下肢短
HP:0006386: Hypoplastic distal radial epiphyses / 桡骨远端骨骺发育不良
HP:0006387: Wide distal femoral metaphysis / 股骨远端干骺端增宽
HP:0006389: Limited knee flexion / 膝关节屈曲受限
HP:0006390: Anterior tibial bowing / 胫骨向前弯曲
HP:0006391: Overtubulated long bones / 纤细长骨
HP:0006392: Increased density of long bones / 长骨骨密度增加
HP:0006394: Limited pronation/supination of forearm / 前臂旋前或旋后受限
HP:0006397: Lateral displacement of patellae / 髌骨侧向脱位
HP:0006398: Flat distal femoral epiphysis / 股骨远端骨骺扁平
HP:0006400: Absent knee epiphyses / 膝关节骨骺缺失
HP:0006402: Distal shortening of limbs / 四肢远端缩短
HP:0006406: Club-shaped proximal femur / 棒状股骨近端
HP:0006407: Irregular distal femoral epiphysis / 股骨远端骨骺不规则
HP:0006408: Distal tapering femur / 股骨远端逐渐变细
HP:0006409: Progressive leg bowing / 渐进式腿部弯曲
HP:0006413: Broad tibial metaphyses / 胫骨干骺端变宽
HP:0006414: Distal tibial bowing / 胫骨远端弯曲
HP:0006415: Cortically dense long tubular bones / 长管骨皮质密度增加
HP:0006417: Broad femoral metaphyses / 股骨干骺端变宽
HP:0006420: Asymmetric radial dysplasia / 不对称的桡骨发育不良
HP:0006423: Peg-like central prominence of distal tibial metaphyses / 胫骨远端干骺端钉状中央突出
HP:0006424: Elongated radius / 增长的桡骨
HP:0006426: Rudimentary to absent tibiae / 胫骨发育不良以至缺如
HP:0006429: Broad femoral neck / 股骨颈变宽
HP:0006431: Proximal femoral metaphyseal abnormality / 股骨近端干骺端异常
HP:0006432: Trapezoidal distal femoral condyles / 股骨远端楔形髁突
HP:0006433: Radial dysplasia / 桡骨发育不良
HP:0006434: Hypoplasia of proximal radius / 近端桡骨发育低下
HP:0006437: Disproportionate prominence of the femoral medial condyle / 股骨内侧髁不成比例的突出
HP:0006438: Enlargement of the distal femoral epiphysis / 股骨远端骨骺膨大
HP:0006439: Radioulnar dislocation / 尺桡关节脱位
HP:0006440: Increased density of long bone diaphyses / 长骨骨干骨密度增加
HP:0006441: Lateral humeral condyle aplasia / 肱骨外侧髁发育不全
HP:0006442: Hypoplasia of proximal fibula / 腓骨近端发育不良
HP:0006443: Patellar aplasia / 髌骨发育不全
HP:0006446: Dysplastic patella / 髌骨发育不良
HP:0006449: Distal radial epiphyseal osteolysis / 桡骨远端骨骺骨质溶解
HP:0006450: Multicentric ossification of proximal femoral epiphyses / 股骨近端骨骺多中心骨化
HP:0006453: Lateral displacement of the femoral head / 股骨头横向移位
HP:0006454: Delayed patellar ossification / 髌骨骨化延迟
HP:0006456: Irregular proximal tibial epiphyses / 胫骨近端骨骺不规则
HP:0006459: Dorsal subluxation of ulna / 尺骨背侧半脱位
HP:0006460: Increased laxity of ankles / 脚踝松弛度增加
HP:0006461: Proximal femoral epiphysiolysis / 股骨近端骨骺生理溶解
HP:0006462: Generalized bone demineralization / 广泛性骨矿质密度降低
HP:0006463: Rickets of the lower limbs / 下肢佝偻病
HP:0006465: Periosteal thickening of long tubular bones / 长管状骨骨膜增厚
HP:0006466: Ankle flexion contracture / 踝关节屈曲挛缩
HP:0006467: Limited shoulder movement / 肩部活动受限
HP:0006470: Thin long bone diaphyses / 长骨骨干纤细
HP:0006471: Fixed elbow flexion / 肘关节曲位固定
HP:0006473: Anterior bowing of long bones / 长骨向前弯曲
HP:0006476: Abnormality of the pancreatic islet cells / 胰岛细胞异常
HP:0006477: Abnormality of the alveolar ridges / 牙槽嵴异常
HP:0006479: Abnormal dental pulp morphology / 牙髓形态异常
HP:0006480: Premature loss of teeth / 牙齿过早脱落
HP:0006481: Abnormality of primary teeth / 乳牙异常
HP:0006482: Abnormality of dental morphology / 牙齿形态异常
HP:0006483: Abnormal number of teeth / 牙齿数目异常
HP:0006485: Agenesis of incisor / 切牙发育不全
HP:0006486: Abnormal dental root morphology / 牙根形态异常
HP:0006487: Bowing of the long bones / 长骨弯曲
HP:0006488: Bowing of the arm / 手臂弯曲
HP:0006489: Abnormal femoral metaphysis morphology / 股骨干骺端形态异常
HP:0006490: Abnormal lower-limb metaphysis morphology / 下肢干骺端形态异常
HP:0006491: Abnormal tibial metaphysis morphology / 胫骨干骺端形态异常
HP:0006492: Aplasia/Hypoplasia of the fibula / 腓骨发育不良/发育不全
HP:0006493: Aplasia/hypoplasia involving bones of the lower limbs / 下肢骨骼发育不良/发育不全
HP:0006494: Aplasia/Hypoplasia involving bones of the feet / 足部骨骼发育不良/发育不全
HP:0006495: Aplasia/Hypoplasia of the ulna / 尺骨发育不良/发育不全
HP:0006496: Aplasia/hypoplasia involving bones of the upper limbs / 上肢骨骼发育不良/发育不全
HP:0006498: Aplasia/Hypoplasia of the patella / 髌骨发育不良/发育不全
HP:0006499: Abnormality of femoral epiphysis / 股骨骨骺异常
HP:0006500: Abnormality of lower limb epiphysis morphology / 下肢骨骺形态异常
HP:0006501: Aplasia/Hypoplasia of the radius / 桡骨发育不良/发育不全
HP:0006502: Aplasia/Hypoplasia involving the carpal bones / 腕骨发育不良/发育不全
HP:0006503: Aplasia/hypoplasia involving forearm bones / 前臂骨骼发育不良/发育不全
HP:0006505: Abnormal limb epiphysis morphology / 四肢骨骺形态异常
HP:0006507: Aplasia/hypoplasia of the humerus / 肱骨发育不良/发育不全
HP:0006508: Abnormality of tibial epiphyses / 胫骨骨骺异常
HP:0006509: Diverticulosis of trachea / 气管憩室
HP:0006510: Chronic pulmonary obstruction / 慢性阻塞性肺疾病
HP:0006511: Laryngeal stridor / 喉喘鸣
HP:0006514: Intraalveolar nodular calcifications / 肺泡内结节性钙化
HP:0006515: Interstitial pneumonitis / 间质性肺炎
HP:0006516: Hypersensitivity pneumonitis / 过敏性肺炎
HP:0006517: Intraalveolar phospholipid accumulation / 肺泡蛋白沉积症
HP:0006518: Pulmonary venous occlusion / 肺静脉闭塞
HP:0006519: Alveolar cell carcinoma / 肺泡细胞癌
HP:0006520: Progressive pulmonary function impairment / 进行性肺功能受损
HP:0006521: Pulmonary lymphangiectasia / 肺淋巴管扩张
HP:0006522: Repeated pneumothoraces / 反复气胸
HP:0006524: Tracheobronchial leiomyomatosis / 气管，支气管平滑肌瘤病
HP:0006527: Lymphocytic interstitial pneumonia / 淋巴细胞性间质性肺炎
HP:0006528: Chronic lung disease / 慢性肺病
HP:0006529: Abnormal pulmonary lymphatics / 肺淋巴管异常
HP:0006530: Abnormal pulmonary interstitial morphology / 肺间质形态异常
HP:0034769: Pulmonary Langerhans cell histiocytosis / 肺朗格汉斯细胞组织细胞增多症
HP:0006531: Pleural lymphangiectasia / 胸膜淋巴管扩张
HP:0006532: Recurrent pneumonia / 反复肺炎
HP:0006533: Bronchodysplasia / 支气管软骨发育不全
HP:0006535: Recurrent intrapulmonary hemorrhage / 复发性肺内出血
HP:0006536: Airway obstruction / 气道阻塞
HP:0006538: Recurrent bronchopulmonary infections / 反复支气管肺感染
HP:0006539: Bronchial cartilage hypoplasia / 支气管软骨发育不全
HP:0006543: Cardiorespiratory arrest / 心跳呼吸骤停
HP:0006544: Extrapulmonary sequestrum / 肺外型肺隔离
HP:0006548: Pulmonary arteriovenous malformation / 肺动静脉畸形
HP:0006549: Unilateral primary pulmonary dysgenesis / 单侧原发性肺动脉发育不良
HP:0006552: Fibrocystic lung disease / 纤维囊性肺疾病
HP:0006554: Acute hepatic failure / 急性肝功能衰竭
HP:0006555: Diffuse hepatic steatosis / 弥漫性肝脂肪变性
HP:0006557: Polycystic liver disease / 多囊性肝病
HP:0006558: Decreased mitochondrial complex III activity in liver tissue / 肝组织线粒体复合物III活性降低
HP:0006559: Hepatic calcification / 肝钙化
HP:0006560: Biliary hyperplasia / 胆管增生
HP:0006561: Lipid accumulation in hepatocytes / 肝细胞内脂质堆积
HP:0006562: Viral hepatitis / 病毒性肝炎
HP:0006563: Malformation of the hepatic ductal plate / 肝管板畸形
HP:0006564: Fluctuating hepatomegaly / 间歇性肝肿大
HP:0006565: Increased hepatocellular lipid droplets / 肝细胞内脂滴增加
HP:0006566: Neonatal cholestatic liver disease / 新生儿胆汁淤积性肝病
HP:0006568: Increased hepatic glycogen content / 肝糖原含量增高
HP:0006571: Reduced number of intrahepatic bile ducts / 肝内胆管数量减少
HP:0006572: Subacute progressive viral hepatitis / 亚急性进行性病毒性肝炎
HP:0006573: Acute hepatic steatosis / 急性肝脂肪变性
HP:0006574: Hepatic arteriovenous malformation / 肝动静脉畸形
HP:0006575: Intrahepatic cholestasis with episodic jaundice / 肝内胆汁淤积伴发作性黄疸
HP:0006576: Hepatic vascular malformations / 肝脏血管畸形
HP:0006577: Macronodular cirrhosis / 大结节性肝硬化
HP:0006579: Prolonged neonatal jaundice / 新生儿黄疸期延长
HP:0006580: Portal fibrosis / 汇管区纤维化
HP:0006581: Depletion of mitochondrial DNA in liver / 肝脏线粒体DNA缺失
HP:0006582: Reye syndrome-like episodes / Reye综合征样发作
HP:0006583: Fatal liver failure in infancy / 婴儿期致命性肝功能衰竭
HP:0006584: Small abnormally formed scapulae / 小的异常形成的肩胛骨
HP:0006585: Congenital pseudoarthrosis of the clavicle / 先天性锁骨假关节
HP:0006587: Straight clavicles / 锁骨平直
HP:0006589: Flaring of lower rib cage / 下部肋缘外翻
HP:0006590: Premature sternal synostosis / 胸骨骨化过早
HP:0006591: Absent glenoid fossa / 关节窝缺如
HP:0006593: Anomalous rib insertion to vertebrae / 肋骨插入椎骨异常
HP:0006595: Scapulohumeral synostosis / 肩胛肱骨关节融合
HP:0006596: Restricted chest movement / 胸廓活动受限
HP:0006597: Diaphragmatic paralysis / 膈肌麻痹
HP:0006598: Irregular ossification at anterior rib ends / 肋骨前端不规则骨化
HP:0006599: Medial widening of clavicles / 锁骨内侧增宽
HP:0006600: Progressive calcification of costochondral cartilage / 进行性肋软骨钙化
HP:0006603: Flared, irregular rib ends / 喇叭状不规则肋骨端
HP:0006606: Irregular chondrocostal junctions / 肋软骨交界处不规则
HP:0006607: Precocious costochondral ossification / 提早的肋软骨骨化
HP:0006608: Midclavicular hypoplasia / 锁骨中部发育不全
HP:0006610: Wide intermamillary distance / 乳头间距宽
HP:0006611: Decreased number of sternal ossification centers / 胸骨骨化中心数量减少
HP:0006615: Absent in utero rib ossification / 宫内肋骨未骨化
HP:0006619: Anterior rib punctate calcifications / 肋骨前端点状钙化
HP:0006623: Costochondral joint sclerosis / 肋软骨关节硬化
HP:0006625: Multifocal breast carcinoma / 多灶性乳腺癌
HP:0006628: Absent sternal ossification / 胸骨骨化缺如
HP:0006631: Hypoplastic distal segments of scapulae / 肩胛骨远端部分发育不良
HP:0006633: Glenoid fossa hypoplasia / 关节窝发育不全
HP:0006634: Osteosclerosis of ribs / 肋骨硬化
HP:0006637: Sternal punctate calcifications / 胸骨点状钙化
HP:0006638: Midclavicular aplasia / 锁骨中部发育不全
HP:0006640: Multiple rib fractures / 多发性肋骨骨折
HP:0006641: Prominent floating ribs / 游离肋突出
HP:0006642: Large sternal ossification centers / 大胸骨骨化中心
HP:0006643: Fused sternal ossification centers / 胸骨骨化中心融合
HP:0006644: Thoracic dysplasia / 胸廓发育不良
HP:0006645: Thin clavicles / 锁骨细小
HP:0006646: Costal cartilage calcification / 肋软骨钙化
HP:0006647: Congenital microthorax / 先天性小胸廓
HP:0006649: Costochondral pain / 肋软骨痛
HP:0006650: Thickening of the lateral border of the scapula / 肩胛骨外侧缘增厚
HP:0006655: Rib segmentation abnormalities / 肋骨分节异常
HP:0006657: Hypoplasia of first ribs / 第一肋发育不全
HP:0006659: Internally rotated shoulders / 内旋肩
HP:0006660: Aplastic clavicle / 锁骨发育不全
HP:0006665: Coat hanger sign of ribs / 衣架样肋骨
HP:0006668: Twelfth rib hypoplasia / 第十二肋发育不全
HP:0006670: Impaired myocardial contractility / 心肌收缩力受损
HP:0006671: Paroxysmal atrial tachycardia / 阵发性房性心动过速
HP:0006673: Reduced systolic function / 心收缩功能降低
HP:0006677: Prolonged QRS complex / QRS波群延长
HP:0006679: Granulomatous coronary arteritis / 肉芽肿性冠状动脉炎
HP:0006681: Absent atrioventricular node / 房室结缺如
HP:0006682: Premature ventricular contraction / 室性期前收缩
HP:0006683: Abnormal ventricular filling / 心室充盈异常
HP:0006684: Ventricular preexcitation with multiple accessory pathways / 多旁路心室预激综合征
HP:0006685: Endocardial fibrosis / 心内膜纤维化
HP:0006687: Aortic tortuosity / 主动脉迂曲
HP:0006688: Paroxysmal tachycardia / 阵发性心动过速
HP:0006689: Bacterial endocarditis / 细菌性心内膜炎
HP:0006690: Myocardial calcification / 心肌钙化
HP:0006691: Pulmonic valve myxoma / 肺动脉瓣粘液瘤
HP:0006692: Short chordae tendineae of the tricuspid valve / 三尖瓣短腱索
HP:0006693: Myocardial steatosis / 心肌脂肪变性
HP:0006694: Early progressive calcific cardiac valvular disease / 早发渐进性心脏瓣膜钙化
HP:0006695: Atrioventricular canal defect / 房室管缺损
HP:0006696: Polymorphic and polytopic ventricular extrasystoles / 多态性及多发性室性期前收缩
HP:0006698: Dilatation of the ventricular cavity / 心室腔扩张
HP:0006699: Premature atrial contractions / 房性早搏
HP:0006702: Coronary artery dissection / 冠状动脉夹层
HP:0006703: Aplasia/Hypoplasia of the lungs / 肺发育缺陷/不全
HP:0006704: Abnormal coronary artery morphology / 冠状动脉形态异常
HP:0006705: Abnormal atrioventricular valve morphology / 房室瓣形态异常
HP:0006706: Cystic liver disease / 囊性肝病
HP:0006707: Abnormality of the hepatic vasculature / 肝脏血管异常
HP:0006709: Aplasia/Hypoplasia of the nipples / 乳头发育不全/不良
HP:0006710: Aplasia/Hypoplasia of the clavicles / 锁骨发育不良/发育不全
HP:0006711: Aplasia/Hypoplasia involving bones of the thorax / 胸廓骨骼发育不良/发育不全
HP:0006712: Aplasia/Hypoplasia of the ribs / 肋骨发育不良/发育不全
HP:0006713: Aplasia/Hypoplasia of the scapulae / 肩胛骨发育不良/发育不全
HP:0006714: Aplasia/Hypoplasia of the sternum / 胸骨发育不良/发育不全
HP:0006715: Glomus tympanicum paraganglioma / 鼓室副神经节瘤
HP:0006716: Hereditary nonpolyposis colorectal carcinoma / 遗传性非息肉性结直肠癌
HP:0006717: Peripheral neuroepithelioma / 周围神经上皮瘤
HP:0006719: Benign gastrointestinal tract tumors / 良性胃肠道肿瘤
HP:0006721: Acute lymphoblastic leukemia / 急性淋巴细胞白血病
HP:0006722: Small intestine carcinoid / 小肠类癌
HP:0006723: Intestinal carcinoid / 肠道类癌
HP:0006725: Pancreatic adenocarcinoma / 胰腺腺癌
HP:0006727: T-cell acute lymphoblastic leukemias / T细胞急性淋巴细胞白血病
HP:0006729: Retroperitoneal chemodectomas / 腹膜后化学感受器瘤
HP:0006731: Follicular thyroid carcinoma / 甲状腺滤泡癌
HP:0006732: Papillary renal cell carcinoma type 2 / Ⅱ型乳头状肾细胞癌
HP:0006733: Acute megakaryocytic leukemia / 急性巨核细胞白血病
HP:0006735: Renal cortical adenoma / 肾皮质腺瘤
HP:0006737: Extraadrenal pheochromocytoma / 异位嗜铬细胞瘤
HP:0006739: Squamous cell carcinoma of the skin / 皮肤鳞状上皮细胞癌
HP:0006740: Transitional cell carcinoma of the bladder / 膀胱移行细胞癌
HP:0006742: Congenital neuroblastoma / 先天性神经母细胞瘤
HP:0006743: Embryonal rhabdomyosarcoma / 胚胎横纹肌肉瘤
HP:0006744: Adrenocortical carcinoma / 肾上腺皮质癌
HP:0006747: Ganglioneuroblastoma / 神经节神经母细胞瘤
HP:0006748: Adrenal pheochromocytoma / 肾上腺嗜铬细胞瘤
HP:0006749: Malignant gastrointestinal tract tumors / 胃肠道恶性肿瘤
HP:0006751: Paraspinal neurofibromas / 椎旁神经纤维瘤
HP:0006753: Neoplasm of the stomach / 胃新生物
HP:0006755: Cutaneous leiomyosarcoma / 皮肤平滑肌肉瘤
HP:0006756: Diffuse leiomyomatosis / 弥漫性平滑肌瘤病
HP:0006758: Malignant genitourinary tract tumor / 恶性泌尿生殖道肿瘤
HP:0006762: Renal pelvic carcinoma / 肾盂癌
HP:0006763: Anal canal squamous carcinoma / 肛管鳞状细胞癌
HP:0006765: Chondrosarcoma / 软骨肉瘤
HP:0006766: Papillary renal cell carcinoma / 乳头状肾细胞癌
HP:0006767: Pituitary prolactin cell adenoma / 垂体泌乳素腺瘤
HP:0006768: Localized neuroblastoma / 局灶神经母细胞瘤
HP:0006769: Myxoid subcutaneous tumors / 粘液样皮下肿瘤
HP:0006770: Clear cell renal cell carcinoma / 肾透明细胞癌
HP:0006771: Duodenal adenocarcinoma / 十二指肠腺癌
HP:0006772: Renal angiomyolipoma / 肾血管平滑肌脂肪瘤
HP:0006773: Cutaneous angiolipomas / 皮肤血管脂肪瘤
HP:0006774: Ovarian papillary adenocarcinoma / 卵巢乳头状腺癌
HP:0006775: Multiple myeloma / 多发性骨髓瘤
HP:0006778: Benign genitourinary tract neoplasm / 泌尿生殖道良性肿瘤
HP:0006779: Alveolar rhabdomyosarcoma / 腺泡型横纹肌肉瘤
HP:0006780: Parathyroid carcinoma / 甲状旁腺癌
HP:0006781: Hurthle cell thyroid adenoma / 嗜酸细胞甲状腺腺瘤
HP:0006782: Malignant eosinophil proliferation / 嗜酸性粒细胞恶性增殖
HP:0006783: Posterior pharyngeal cleft / 咽后壁裂
HP:0006784: Paranasal sinus hypoplasia / 鼻窦发育不全
HP:0006785: Limb-girdle muscular dystrophy / 肢带型肌营养不良症
HP:0006789: Mitochondrial encephalopathy / 线粒体脑病
HP:0006790: Cerebral cortex with spongiform changes / 大脑皮质海绵状改变
HP:0006794: Loss of ability to walk in first decade / 10岁内行走能力丧失
HP:0006799: Basal ganglia cysts / 基底节囊肿
HP:0006801: Hyperactive deep tendon reflexes / 腱反射亢进
HP:0006802: Abnormal anterior horn cell morphology / 脊髓前角细胞形态异常
HP:0006803: Vivid hallucinations / 生动的幻觉
HP:0006808: Cerebral hypomyelination / 脑髓鞘形成减少
HP:0006812: White mater abnormalities in the posterior periventricular region / 后部脑室周围区域白质异常
HP:0006813: Focal hemiclonic seizure / 局灶性偏侧阵挛发作
HP:0006817: Aplasia/Hypoplasia of the cerebellar vermis / 小脑蚓部发育缺陷/发育不全
HP:0006818: 4-layered lissencephaly / 4层无脑回畸形
HP:0006821: Frontal polymicrogyria / 额叶多小回
HP:0006824: Cranial nerve paralysis / 颅神经麻痹
HP:0006825: Pallor of dorsal columns of the spinal cord / 脊髓背侧柱苍白
HP:0006827: Atrophy of the spinal cord / 脊髓萎缩
HP:0006829: Severe muscular hypotonia / 严重的肌张力减退
HP:0006834: Developmental stagnation at onset of seizures / 癫痫发病后的发育停滞
HP:0006837: Congenital Horner syndrome / 先天性霍纳综合征
HP:0006844: Absent patellar reflexes / 膝反射消失
HP:0006846: Acute encephalopathy / 急性脑病
HP:0006849: Hypodysplasia of the corpus callosum / 胼胝体发育不良
HP:0006850: Hypoplasia of the ventral pons / 腹侧桥脑发育不良
HP:0006851: Symmetric spinal nerve root neurofibromas / 对称的脊神经根神经纤维瘤
HP:0006852: Episodic generalized hypotonia / 发作性全身肌张力减退
HP:0006855: Cerebellar vermis atrophy / 小脑蚓部萎缩
HP:0006858: Impaired distal proprioception / 远端本体感觉障碍
HP:0006859: Posterior leukoencephalopathy / 后部白质脑病
HP:0006863: Severe expressive language delay / 严重的表达性语言发育延迟
HP:0006865: Sensorimotor polyneuropathy affecting arms more than legs / 感觉运动多神经病影响胳膊比腿更多
HP:0006866: Midline central nervous system lipomas / 中线中枢神经系统脂肪瘤
HP:0006870: Lobar holoprosencephaly / 脑叶性前脑无裂畸形
HP:0006872: Cerebral hypoplasia / 脑发育不全
HP:0006873: Symmetrical progressive peripheral demyelination / 对称的进行性周围神经脱髓鞘
HP:0006879: Pontocerebellar atrophy / 脑桥小脑萎缩
HP:0006880: Cerebellar hemangioblastoma / 小脑血管母细胞瘤
HP:0006881: Diffuse peripheral demyelination / 弥漫性周围神经脱髓鞘
HP:0006882: Severe hydrocephalus / 严重的脑积水
HP:0006886: Impaired distal vibration sensation / 远端振动觉障碍
HP:0006887: Intellectual disability, progressive / 进行性智力障碍
HP:0006888: Meningoencephalocele / 脑膜脑膨出
HP:0006889: Intellectual disability, borderline / 边缘状态智力障碍
HP:0006891: Thick cerebral cortex / 大脑皮层增厚
HP:0006892: Frontotemporal cerebral atrophy / 额颞叶萎缩
HP:0006894: Hypoplastic olfactory lobes / 嗅叶发育不良
HP:0006895: Lower limb hypertonia / 下肢肌张力增高
HP:0006896: Hypnopompic hallucinations / 醒前幻觉
HP:0006897: Abducens palsy / 外展神经麻痹
HP:0006899: Fusion of the cerebellar hemispheres / 小脑半球融合
HP:0006903: Congenital peripheral neuropathy / 先天性周围神经病变
HP:0006904: Late-onset spinocerebellar degeneration / 迟发性脊髓小脑变性
HP:0006906: Congenital intracerebral calcification / 先天性脑内钙化
HP:0006913: Frontal cortical atrophy / 额叶皮质萎缩
HP:0006915: Inability to walk by childhood/adolescence / 青少年行走不能
HP:0006916: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material / 曲线性自体荧光脂色素存储物质的轴突内堆积增加
HP:0006918: Diffuse cerebral sclerosis / 弥漫性脑硬化
HP:0006919: Abnormal aggressive, impulsive or violent behavior / 异常的攻击、冲动或暴力行为
HP:0006921: Axial muscle stiffness / 轴向肌肉僵硬
HP:0006926: Metachromatic leukodystrophy variant / 变异型异染性脑白质营养不良
HP:0006927: Unilateral polymicrogyria / 单侧多小脑回
HP:0006929: Hypoglycemic encephalopathy / 低血糖脑病
HP:0006930: Frontoparietal cortical dysplasia / 额顶叶皮质发育不良
HP:0006931: Pericallosal lipoma / 胼胝体周围脂肪瘤
HP:0006932: Transient psychotic episodes / 短暂性精神病性发作
HP:0006934: Congenital nystagmus / 先天性眼球震颤
HP:0006937: Impaired distal tactile sensation / 远端触觉感觉障碍
HP:0006938: Impaired vibration sensation at ankles / 脚踝振动觉障碍
HP:0006943: Diffuse spongiform leukoencephalopathy / 弥漫性海绵状白质脑病
HP:0006944: Abolished vibration sense / 振动觉消失
HP:0006946: Recurrent meningitis / 复发性脑膜炎
HP:0006949: Episodic peripheral neuropathy / 发作性周围神经病变
HP:0006951: Retrocerebellar cyst / Retrocerebellar囊肿
HP:0006955: Olivopontocerebellar hypoplasia / 橄榄桥脑小脑发育不全
HP:0006956: Lateral ventricle dilatation / 侧脑室扩张
HP:0006958: Abnormal auditory evoked potentials / 听觉诱发电位异常
HP:0006959: Proximal spinal muscular atrophy / 近端脊肌萎缩
HP:0006960: Choroid plexus calcification / 脉络丛钙化
HP:0006961: Jerky head movements / 抽动样头部运动
HP:0006962: Gait instability, worse in the dark / 步态不稳，黑暗时更差
HP:0006964: Cerebral cortical neurodegeneration / 大脑皮层神经变性
HP:0006965: Acute necrotizing encephalopathy / 急性坏死性脑病
HP:0006970: Periventricular leukomalacia / 脑室周围白质软化
HP:0006976: Necrotizing encephalopathy / 坏死性脑病
HP:0006977: Grammar-specific speech disorder / 语法性语言障碍
HP:0006978: Dysmyelinating leukodystrophy / 髓鞘障碍性脑白质营养不良
HP:0006979: Sleep-wake cycle disturbance / 睡眠-觉醒周期紊乱
HP:0006980: Progressive leukoencephalopathy / 进行性脑白质病
HP:0006986: Upper limb spasticity / 上肢痉挛
HP:0006988: Alobar holoprosencephaly / 无脑叶畸形
HP:0006989: Dysplastic corpus callosum / 胼胝体发育异常
HP:0006990: Myelin-dependent gliosis / 髓鞘相关胶质细胞增生
HP:0006992: Anterior basal encephalocele / 前基底脑膨出
HP:0006994: Diffuse leukoencephalopathy / 弥漫性脑白质病
HP:0006999: Basal ganglia gliosis / 基底节胶质细胞增生
HP:0007000: Morning myoclonic jerks / 早晨肌阵挛样抽动
HP:0007001: Loss of Purkinje cells in the cerebellar vermis / 小脑蚓部浦肯野细胞缺失
HP:0007002: Motor axonal neuropathy / 运动轴索性神经病
HP:0007006: Dorsal column degeneration / 后索变性
HP:0007007: Cavitation of the basal ganglia / 基底节间隙
HP:0007009: Central nervous system degeneration / 中枢神经系统变性
HP:0007010: Poor fine motor coordination / 精细动作协调差
HP:0007011: Fourth cranial nerve palsy / 第四组颅神经麻痹
HP:0007015: Poor gross motor coordination / 粗大运动协调差
HP:0007016: Corticospinal tract hypoplasia / 皮质脊髓束发育不全
HP:0007017: Progressive forgetfulness / 进行性健忘
HP:0007018: Attention deficit hyperactivity disorder / 注意力缺陷多动障碍
HP:0007020: Progressive spastic paraplegia / 进行性痉挛性截瘫
HP:0007021: Pain insensitivity / 疼痛不敏感
HP:0007023: Antenatal intracerebral hemorrhage / 产前脑出血
HP:0007024: Pseudobulbar paralysis / 假性球麻痹
HP:0007027: Poorly formed metencephalon / 后脑形成不良
HP:0007029: Cerebral berry aneurysm / 颅内浆果样动脉瘤
HP:0007030: Nonprogressive encephalopathy / 非进行性脑病
HP:0007033: Cerebellar dysplasia / 小脑发育不良
HP:0007034: Generalized hyperreflexia / 广泛性反射亢进
HP:0007035: Anterior encephalocele / 前脑膨出
HP:0007036: Hypoplasia of olfactory tract / 嗅束发育不良
HP:0007039: Symmetric lesions of the basal ganglia / 基底节对称性病变
HP:0007041: Chronic lymphocytic meningitis / 慢性淋巴细胞性脑膜炎
HP:0007042: Focal white matter lesions / 局灶性脑白质病变
HP:0007045: Midline brain calcifications / 脑中线钙化
HP:0007047: Atrophy of the dentate nucleus / 齿状核萎缩
HP:0007048: Large basal ganglia / 基底节增大
HP:0007052: Multifocal cerebral white matter abnormalities / 多灶性脑白质异常
HP:0007054: Proximal hyperreflexia / 近端腱反射增高
HP:0007057: Poor hand-eye coordination / 手眼协调性差
HP:0007058: Generalized cerebral atrophy/hypoplasia / 广泛性脑萎缩/发育不全
HP:0007063: Aplasia of the inferior half of the cerebellar vermis / 小脑蚓部的下部发育缺陷
HP:0007064: Progressive language deterioration / 渐进式的语言恶化
HP:0007065: Disorganization of the anterior cerebellar vermis / 小脑前蚓部结构紊乱
HP:0007066: Proximal limb muscle stiffness / 近端肢体肌肉僵硬
HP:0007067: Distal peripheral sensory neuropathy / 远端感觉性周围神经病变
HP:0007068: Inferior cerebellar vermis hypoplasia / 下小脑蚓发育不全
HP:0007069: Profound static encephalopathy / 严重的静息性脑病
HP:0007074: Thick corpus callosum / 胼胝体增厚
HP:0007076: Extrapyramidal muscular rigidity / 锥体外系肌强直
HP:0007078: Decreased amplitude of sensory action potentials / 感觉动作电位波幅降低
HP:0007081: Late-onset muscular dystrophy / 迟发性肌肉萎缩症
HP:0007082: Dilated third ventricle / 第三脑室扩张
HP:0007083: Hyperactive patellar reflex / 膝腱反射亢进
HP:0007086: Social and occupational deterioration / 社交和职业退化
HP:0007089: Facial-lingual fasciculations / 面-舌肌束颤
HP:0007096: Hypoplasia of the optic tract / 视束发育不良
HP:0007097: Cranial nerve motor loss / 颅神经运动功能丧失
HP:0007098: Paroxysmal choreoathetosis / 发作性舞蹈手足徐动
HP:0007099: Chiari type I malformation / 小脑扁桃体下疝畸形（Chiari I 型畸形）
HP:0007100: Progressive ventriculomegaly / 渐进性脑室扩大
HP:0007103: Hypointensity of cerebral white matter on MRI / MRI脑白质低信号
HP:0007104: Prolonged somatosensory evoked potentials / 体感诱发电位潜伏期延长
HP:0007105: Infantile encephalopathy / 婴儿脑病
HP:0007107: Segmental peripheral demyelination / 节段性周围性脱髓鞘
HP:0007108: Demyelinating peripheral neuropathy / 脱髓鞘性周围神经病
HP:0007109: Periventricular cysts / 脑室周围囊肿
HP:0007110: Central hypoventilation / 中枢性低通气
HP:0007111: Chronic hepatic encephalopathy / 慢性肝性脑病
HP:0007112: Temporal cortical atrophy / 颞叶皮质萎缩
HP:0007115: Orbital encephalocele / 眶部脑膨出
HP:0007117: Corticospinal tract atrophy / 皮质脊髓束萎缩
HP:0007123: Subcortical dementia / 皮质下痴呆
HP:0007126: Proximal amyotrophy / 近端肌萎缩