TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:488232):
Split-foot malformation-mesoaxial polydactyly syndrome
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
SFMMP

Associated phenotypes (HPO):
id: HP:0100483
hpo_term: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
chpo_term: 第二趾近节趾骨与第二跖骨关节融合
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0005767
hpo_term: 1-2 toe complete cutaneous syndactyly
chpo_term: 第一、二脚趾完全皮肤性并趾
id: HP:0010076
hpo_term: Aplasia/Hypoplasia of the distal phalanx of the hallux
chpo_term: 拇趾末节趾骨发育不良或发育不全
id: HP:0010112
hpo_term: Mesoaxial foot polydactyly
chpo_term: 足中轴型多趾
id: HP:0010359
hpo_term: Aplasia/Hypoplasia of the phalanges of the 3rd toe
chpo_term: 第三趾趾骨发育不良/发育不全
id: HP:0010371
hpo_term: Aplasia/Hypoplasia of the phalanges of the 4th toe
chpo_term: 第四趾趾骨发育不全/发育不良
id: HP:0010383
hpo_term: Aplasia/Hypoplasia of the phalanges of the 5th toe
chpo_term: 第五趾趾骨发育不全/发育不良
id: HP:0010413
hpo_term: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
chpo_term: 第二趾末节趾骨发育不良/发育不全
id: HP:0010711
hpo_term: 1-2 toe syndactyly
chpo_term: 第一、二脚趾并趾
Disease (ORPHA:79113):
Mandibulofacial dysostosis, Guion-Almeida type
Mandibulofacial dysostosis-microcephaly syndrome
MFDM syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008609
hpo_term: Morphological abnormality of the middle ear
chpo_term: 中耳形态异常
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0011268
hpo_term: Absent tragus
chpo_term: 耳屏缺失
id: HP:0011272
hpo_term: Underdeveloped tragus
chpo_term: 耳屏发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
Disease (ORPHA:93402):
Syndactyly type 1

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0006097
hpo_term: 3-4 finger syndactyly
chpo_term: 第三-四指并指
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
Disease (ORPHA:1699):
Trisomy 12p syndrome
Duplication 12p

Associated phenotypes (HPO):
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002916
hpo_term: Abnormality of chromosome segregation
chpo_term: 染色体分离异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0008053
hpo_term: Aplasia/Hypoplasia of the iris
chpo_term: 虹膜发育缺陷/不全
id: HP:0008056
hpo_term: Aplasia/Hypoplasia affecting the eye
chpo_term: 眼睛发育缺陷/不全
Disease (ORPHA:93400):
Congenital sialidosis type 2

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0030506
hpo_term: Yellow/white lesions of the retina
chpo_term: 视网膜黄/白病变
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0004554
hpo_term: Generalized hypertrichosis
chpo_term: 泛发性多毛症
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0010808
hpo_term: Protruding tongue
chpo_term: 舌头过长
Disease (ORPHA:431341):
Patent urachus

Associated phenotypes (HPO):
id: HP:0010479
hpo_term: Patent urachus
chpo_term: 脐尿管未闭
id: HP:0010881
hpo_term: Abnormality of the umbilical cord
chpo_term: 脐带异常
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0012618
hpo_term: Urachal cyst
chpo_term: 脐尿管囊肿
id: HP:0034267
hpo_term: Pelvic pain
chpo_term: 骨盆痛
id: HP:0100645
hpo_term: Cystocele
chpo_term: 膀胱膨出
id: HP:0005420
hpo_term: Recurrent gram-negative bacterial infections
chpo_term: 反复革兰氏阴性菌感染
id: HP:0010957
hpo_term: Congenital posterior urethral valve
chpo_term: 先天性后尿道瓣膜
id: HP:0032435
hpo_term: Neonatal omphalitis
chpo_term: 新生儿脐炎
Disease (ORPHA:1686):
Cardiac diverticulum

Associated phenotypes (HPO):
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0001718
hpo_term: Mitral stenosis
chpo_term: 二尖瓣狭窄
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0005182
hpo_term: Bicuspid pulmonary valve
chpo_term: 二叶肺动脉瓣
id: HP:0010446
hpo_term: Tricuspid stenosis
chpo_term: 三尖瓣狭窄
id: HP:0011636
hpo_term: Abnormal coronary artery origin
chpo_term: 冠状动脉起源异常
id: HP:0011662
hpo_term: Tricuspid atresia
chpo_term: 三尖瓣闭锁
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0000775
hpo_term: Abnormality of the diaphragm
chpo_term: 膈肌异常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001679
hpo_term: Abnormal aortic morphology
chpo_term: 主动脉形态异常
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0004971
hpo_term: Pulmonary artery hypoplasia
chpo_term: 肺动脉发育不全
id: HP:0005301
hpo_term: Persistent left superior vena cava
chpo_term: 左侧上腔静脉永存
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0006714
hpo_term: Aplasia/Hypoplasia of the sternum
chpo_term: 胸骨发育不良/发育不全
id: HP:0010773
hpo_term: Partial anomalous pulmonary venous return
chpo_term: 部分肺静脉回流异常
id: HP:0010866
hpo_term: Abdominal wall defect
chpo_term: 腹壁缺损
id: HP:0011628
hpo_term: Congenital defect of the pericardium
chpo_term: 先天性心包缺陷
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
Disease (ORPHA:1682):
Arterial dissection-lentiginosis syndrome

Associated phenotypes (HPO):
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0005294
hpo_term: Arterial dissection
chpo_term: 动脉夹层
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
Disease (ORPHA:1681):
Diprosopia
Diprosopus
Craniofacial duplication

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:93474):
Mucopolysaccharidosis type IS
Mucopolysaccharidosis type 1S
MPS1S
MPSIS
Scheie syndrome

Associated phenotypes (HPO):
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008155
hpo_term: Mucopolysacchariduria
chpo_term: 粘多糖尿症
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0040129
hpo_term: Abnormal nerve conduction velocity
chpo_term: 神经传导速度异常
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
Disease (ORPHA:93476):
Mucopolysaccharidosis type IH/S
MPSIH/S
Hurler-Scheie syndrome
Mucopolysaccharidosis type 1H/S
MPS1H/S

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0040129
hpo_term: Abnormal nerve conduction velocity
chpo_term: 神经传导速度异常
id: HP:0100765
hpo_term: Abnormality of the tonsils
chpo_term: 扁桃体异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:1672):
Diencephalic syndrome
Russell syndrome
Russell diencephalic cachexia
Diencephalic syndrome of childhood
Diencephalic cachexia
Diencephalic syndrome of emaciation

Associated phenotypes (HPO):
id: HP:0000040
hpo_term: Long penis
chpo_term: 长阴茎
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000864
hpo_term: Abnormality of the hypothalamus-pituitary axis
chpo_term: 下丘脑-垂体轴异常
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004375
hpo_term: Neoplasm of the nervous system
chpo_term: 神经系统的肿瘤
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:1671):
SCM type I
SCM type 1
Split cord malformation type 1
Split cord malformation type I
Diastematomyelia

Associated phenotypes (HPO):
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0100563
hpo_term: Diastomatomyelia
chpo_term: 脊髓纵裂
Disease (ORPHA:71212):
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
Hyperinsulinism due to SCHAD deficiency

Associated phenotypes (HPO):
id: HP:0100950
hpo_term: Decreased 3-hydroxyacyl-CoA dehydrogenase level
chpo_term: 3-羟酰基辅酶A脱氢酶水平降低
id: HP:0000825
hpo_term: Hyperinsulinemic hypoglycemia
chpo_term: 高胰岛素性低血糖
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001985
hpo_term: Hypoketotic hypoglycemia
chpo_term: 低酮性低血糖
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003215
hpo_term: Dicarboxylic aciduria
chpo_term: 二羧酸尿症
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0006929
hpo_term: Hypoglycemic encephalopathy
chpo_term: 低血糖脑病
id: HP:0008283
hpo_term: Fasting hyperinsulinemia
chpo_term: 空腹高胰岛素血症
id: HP:0012071
hpo_term: Abnormal circulating acetylcarnitine concentration
chpo_term: 乙酰肉碱代谢异常
id: HP:0030781
hpo_term: Increased circulating free fatty acid level
chpo_term: 循环系统内游离脂肪酸水平增高
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003234
hpo_term: Decreased plasma carnitine
chpo_term: 血浆肉碱降低
id: HP:0008151
hpo_term: Prolonged prothrombin time
chpo_term: 凝血酶原时间延长
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0002605
hpo_term: Hepatic necrosis
chpo_term: 肝坏死
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
Disease (ORPHA:71213):
Retinal cavernous hemangioma
Retinal capillary malformation

Associated phenotypes (HPO):
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0009711
hpo_term: Retinal capillary hemangioma
chpo_term: 视网膜毛细血管瘤
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001147
hpo_term: Retinal exudate
chpo_term: 视网膜渗出
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0008014
hpo_term: Central fundal arteriolar microaneurysms
chpo_term: 眼底中央小动脉微血管瘤
id: HP:0011532
hpo_term: Subretinal exudate
chpo_term: 视网膜下渗出
id: HP:0011886
hpo_term: Hyphema
chpo_term: 前房积血
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012803
hpo_term: Anisometropia
chpo_term: 屈光参差
id: HP:0030528
hpo_term: Paracentral scotoma
chpo_term: 旁中央暗点
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
Disease (ORPHA:468620):
Intellectual disability-epilepsy-extrapyramidal syndrome

Associated phenotypes (HPO):
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010832
hpo_term: Abnormality of pain sensation
chpo_term: 痛觉异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
Disease (ORPHA:279882):
Spasmus nutans

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:71211):
Neuromyelitis optica spectrum disorder
NMOSD
Devic disease

Associated phenotypes (HPO):
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0002529
hpo_term: Neuronal loss in central nervous system
chpo_term: 中枢神经系统神经元损失
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0012486
hpo_term: Myelitis
chpo_term: 脊髓炎
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0100653
hpo_term: Optic neuritis
chpo_term: 视神经炎
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0033342
hpo_term: Anti-aquaporin 4 antibody positivity
chpo_term: 抗水通道蛋白 4 抗体阳性
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0032492
hpo_term: Anti-myelin oligodendrocyte glycoprotein antibody positivity
chpo_term: 抗髓磷脂少突胶质细胞糖蛋白抗体阳性
id: HP:0100247
hpo_term: Recurrent singultus
chpo_term: 反复性嗝逆