TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:53372):
Hereditary chin myoclonus
Hereditary chin-trembling
Familial trembling of the chin
Hereditary geniospasm

Associated phenotypes (HPO):
id: HP:0012462
hpo_term: Chin myoclonus
chpo_term: 下颌肌阵挛
id: HP:3000007
hpo_term: Abnormality of mentalis muscle
chpo_term: 颏肌异常
id: HP:0000178
hpo_term: Abnormality of lower lip
chpo_term: 下唇异常
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
Disease (ORPHA:1988):
Femoral-facial syndrome
FHUFS
FFS
Femoral hypoplasia-unusual facies syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005107
hpo_term: Abnormal sacrum morphology
chpo_term: 骶骨形态异常
id: HP:0005772
hpo_term: Aplasia/Hypoplasia of the tibia
chpo_term: 胫骨发育不全或发育低下
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000040
hpo_term: Long penis
chpo_term: 长阴茎
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常
Disease (ORPHA:1986):
Bifid femur-monodactylous ectrodactyly syndrome
Gollop-Wolfgang complex

Associated phenotypes (HPO):
id: HP:0004058
hpo_term: Hand monodactyly
chpo_term: 独指手
id: HP:0005772
hpo_term: Aplasia/Hypoplasia of the tibia
chpo_term: 胫骨发育不全或发育低下
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0010443
hpo_term: Bifid femur
chpo_term: 股骨骨裂
id: HP:0100257
hpo_term: Ectrodactyly
chpo_term: 缺趾/指畸形
Disease (ORPHA:52047):
Braddock syndrome
Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Associated phenotypes (HPO):
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005950
hpo_term: Laryngeal web
chpo_term: 喉蹼
id: HP:0005988
hpo_term: Congenital muscular torticollis
chpo_term: 先天性肌性斜颈
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
Disease (ORPHA:251071):
8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
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:0004415
hpo_term: Pulmonary artery stenosis
chpo_term: 肺动脉狭窄
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
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:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:157801):
MSSD
Syndactyly, Malik-Percin type
Mesoaxial synostotic syndactyly with phalangeal reduction
Syndactyly type 9

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008362
hpo_term: Aplasia/Hypoplasia of the hallux
chpo_term: 拇趾发育不良/发育不全
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0009843
hpo_term: Aplasia/Hypoplasia of the middle phalanges of the hand
chpo_term: 中节指骨发育不良/发育不全
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
Disease (ORPHA:1973):
Faciocardiorenal syndrome
Eastman-Bixler syndrome

Associated phenotypes (HPO):
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001704
hpo_term: Tricuspid valve prolapse
chpo_term: 三尖瓣脱垂
id: HP:0001706
hpo_term: Endocardial fibroelastosis
chpo_term: 心内膜弹力纤维增生症
Disease (ORPHA:1972):
Lethal faciocardiomelic dysplasia

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
Disease (ORPHA:1970):
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
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:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001099
hpo_term: Fundus atrophy
chpo_term: 眼底萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001821
hpo_term: Broad nail
chpo_term: 宽甲
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
Disease (ORPHA:457083):
SGF
Isolated splenogonadal fusion

Associated phenotypes (HPO):
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0032404
hpo_term: Testicular mass
chpo_term: 睾丸肿块
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0008689
hpo_term: Bilateral cryptorchidism
chpo_term: 双侧隐睾
id: HP:0009714
hpo_term: Abnormal epididymis morphology
chpo_term: 附睾形态异常
id: HP:0010452
hpo_term: Ectopia of the spleen
chpo_term: 脾异位
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
Disease (ORPHA:442835):
Non-specific EOEE
Undetermined early-onset epileptic encephalopathy
Undetermined EOEE
Non-specific early-onset epileptic encephalopathy

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0010844
hpo_term: EEG with multifocal slow activity
chpo_term: 脑电图，多灶性慢活动
id: HP:0011443
hpo_term: Abnormality of coordination
chpo_term: 协调异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0012547
hpo_term: Abnormal involuntary eye movements
chpo_term: 不自主眼球运动异常
Disease (ORPHA:1979):
Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency
Hoepffner-Dreyer-Reimers syndrome
Werner-like syndrome due to combined growth factor deficiency
Lipodystrophy due to peptidic growth factors deficiency

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0010980
hpo_term: Hyperlipoproteinemia
chpo_term: 高脂蛋白血症
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:251076):
Trisomy 8p23.1
Dup(8)(p23.1p23.1)
8p23.1 duplication syndrome

Associated phenotypes (HPO):
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:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100777
hpo_term: Exostoses
chpo_term: 外生骨疣
Disease (ORPHA:52056):
Ulnar/fibula ray defect-brachydactyly syndrome
Morava-Mehes syndrome

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006210
hpo_term: Postaxial oligodactyly
chpo_term: 轴后少指（趾）
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0006495
hpo_term: Aplasia/Hypoplasia of the ulna
chpo_term: 尺骨发育不良/发育不全
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
Disease (ORPHA:247815):
Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxisomal disorder due to PEX10 deficiency

Associated phenotypes (HPO):
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0007002
hpo_term: Motor axonal neuropathy
chpo_term: 运动轴索性神经病
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0008167
hpo_term: Very long chain fatty acid accumulation
chpo_term: 极长链脂肪酸堆积
id: HP:0010965
hpo_term: Abnormal circulating phytanic acid concentration
chpo_term: 植烷酸代谢异常
id: HP:0100275
hpo_term: Diffuse cerebellar atrophy
chpo_term: 弥漫性小脑萎缩
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002457
hpo_term: Abnormal head movements
chpo_term: 头部运动异常
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓