TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:435387):
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y

Associated phenotypes (HPO):
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003731
hpo_term: Quadriceps muscle weakness
chpo_term: 股四头肌无力
id: HP:0006389
hpo_term: Limited knee flexion
chpo_term: 膝关节屈曲受限
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0006944
hpo_term: Abolished vibration sense
chpo_term: 振动觉消失
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
Disease (ORPHA:63275):
Gestational pemphigoid
Pemphigoid gestationis

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
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:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
Disease (ORPHA:171617):
SPG38
Autosomal dominant spastic paraplegia type 38

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003392
hpo_term: First dorsal interossei muscle weakness
chpo_term: 第一背侧骨间肌无力
id: HP:0003426
hpo_term: First dorsal interossei muscle atrophy
chpo_term: 第一背侧骨间肌萎缩
id: HP:0003427
hpo_term: Thenar muscle weakness
chpo_term: 鱼际肌无力
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0009031
hpo_term: Amyotrophy of ankle musculature
chpo_term: 踝部肌肉萎缩
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0012898
hpo_term: Abnormal lower-limb motor evoked potentials
chpo_term: 下肢运动诱发电位异常
Disease (ORPHA:63273):
Distal ABD-filaminopathy
Distal myopathy with posterior leg and anterior hand involvement

Associated phenotypes (HPO):
id: HP:0031177
hpo_term: Finger flexor weakness
chpo_term: 指屈肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0006389
hpo_term: Limited knee flexion
chpo_term: 膝关节屈曲受限
id: HP:0012515
hpo_term: Hip flexor weakness
chpo_term: 屈髋无力
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0002600
hpo_term: Hyporeflexia of lower limbs
chpo_term: 下肢反射减弱
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0030200
hpo_term: Fatiguable weakness of proximal limb muscles
chpo_term: 近端肢体肌肉疲劳性无力
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0006135
hpo_term: Decreased finger mobility
chpo_term: 手指灵活度下降
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
Disease (ORPHA:251347):
Ataxia-telangiectasia-like disorder
ATLD

Associated phenotypes (HPO):
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0040010
hpo_term: Small posterior fossa
chpo_term: 后颅窝小
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0100953
hpo_term: Enlarged interhemispheric fissure
chpo_term: 纵裂扩大
id: HP:0000617
hpo_term: Abnormality of ocular smooth pursuit
chpo_term: 眼部平稳跟踪异常
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
Disease (ORPHA:989):
Hypoglossia-hypodactyly syndrome
Jussieu syndrome
Aglossia-adactylia syndrome
Hanhart syndrome

Associated phenotypes (HPO):
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
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:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006265
hpo_term: Aplasia/Hypoplasia of fingers
chpo_term: 手指发育不良/发育不全
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0009776
hpo_term: Adactyly
chpo_term: 先天性无指
id: HP:0009813
hpo_term: Upper limb phocomelia
chpo_term: 上肢短肢畸形
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010295
hpo_term: Aplasia/Hypoplasia of the tongue
chpo_term: 舌未发育/舌发育不全
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
Disease (ORPHA:988):
Absent tibia-polydactyly syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Werner mesomelic spectrum

Associated phenotypes (HPO):
id: HP:0002991
hpo_term: Abnormality of fibula morphology
chpo_term: 腓骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
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:0006443
hpo_term: Patellar aplasia
chpo_term: 髌骨发育不全
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
Disease (ORPHA:75249):
Familial or idiopathic restrictive cardiomyopathy
Familial isolated restrictive cardiomyopathy

Associated phenotypes (HPO):
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0030950
hpo_term: Pulmonary venous hypertension
chpo_term: 肺静脉高压
id: HP:0031295
hpo_term: Left atrial enlargement
chpo_term: 左心房增大
id: HP:0031329
hpo_term: Interstitial cardiac fibrosis
chpo_term: 间质性心脏纤维化
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0012398
hpo_term: Peripheral edema
chpo_term: 周围性水肿
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001907
hpo_term: Thromboembolism
chpo_term: 血栓栓塞症
Disease (ORPHA:166277):
Suarez-Stickler syndrome
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

Associated phenotypes (HPO):
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
Disease (ORPHA:981):
Internal carotid absence

Associated phenotypes (HPO):
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
Disease (ORPHA:96184):
UPD(14)mat
Temple syndrome due to maternal uniparental disomy of chromosome 14

Associated phenotypes (HPO):
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0004904
hpo_term: Maturity-onset diabetes of the young
chpo_term: 青少年发病的成人型糖尿病
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
Disease (ORPHA:96183):
UPD(9)mat
Maternal uniparental disomy of chromosome 9 syndrome

Associated phenotypes (HPO):
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001795
hpo_term: Hyperconvex nail
chpo_term: 甲异常凸起
id: HP:0002546
hpo_term: Incomprehensible speech
chpo_term: 难以理解的言语
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003070
hpo_term: Elbow ankylosis
chpo_term: 肘运动受限
id: HP:0003089
hpo_term: Hamstring contractures
chpo_term: 腘绳肌挛缩
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0040188
hpo_term: Osteochondrosis
chpo_term: 骨软骨炎
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
Disease (ORPHA:980):
Absence of the pulmonary artery
Aplasia of pulmonary artery
Unilateral pulmonary artery agenesis
Unilateral Pulmonary Artery Absence
UAPA

Associated phenotypes (HPO):
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0012417
hpo_term: Hypocapnia
chpo_term: 低碳酸血症
id: HP:0031983
hpo_term: Abnormal pulmonary thoracic imaging finding
chpo_term: 肺胸部影像学异常
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
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:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
id: HP:0001660
hpo_term: Truncus arteriosus
chpo_term: 动脉干
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0006704
hpo_term: Abnormal coronary artery morphology
chpo_term: 冠状动脉形态异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0025576
hpo_term: Abnormal inferior vena cava morphology
chpo_term: 下腔静脉畸形
id: HP:0031246
hpo_term: Nonproductive cough
chpo_term: 干咳
id: HP:0031664
hpo_term: Systolic heart murmur
chpo_term: 心脏收缩期杂音
id: HP:0040045
hpo_term: Abnormal hemidiaphragm morphology
chpo_term: 单侧横膈形态异常
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
Disease (ORPHA:983):
Vanishing testes syndrome
TRS
XY gonadal agenesis syndrome
Embryonic testicular regression syndrome
Testicular regression syndrome
ETRS
Vanishing testis syndrome

Associated phenotypes (HPO):
id: HP:0010469
hpo_term: Absent testis
chpo_term: 睾丸缺如
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000008
hpo_term: Abnormal morphology of female internal genitalia
chpo_term: 女性内生殖器形态异常
id: HP:0000022
hpo_term: Abnormal male internal genitalia morphology
chpo_term: 男性内生殖器形态异常
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0008633
hpo_term: Agonadism
chpo_term: 无性腺症
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0010468
hpo_term: Aplasia/Hypoplasia of the testes
chpo_term: 睾丸发育不全/发育不良
Disease (ORPHA:55654):
Hypotrichosis simplex
Hereditary hypotrichosis simplex

Associated phenotypes (HPO):
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (ORPHA:96181):
UPD(6)mat
Maternal uniparental disomy of chromosome 6 syndrome

Associated phenotypes (HPO):
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:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002805
hpo_term: Accelerated bone age after puberty
chpo_term: 青春期后骨龄加速
id: HP:0008258
hpo_term: Congenital adrenal hyperplasia
chpo_term: 先天性肾上腺增生症
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高