TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:530983):
Lamb-Shaffer syndrome
SOX5 haploinsufficiency 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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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:0001530
hpo_term: Mild postnatal growth retardation
chpo_term: 轻度产后发育迟缓
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012433
hpo_term: Abnormal social behavior
chpo_term: 社会行为异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0025160
hpo_term: Abnormal temper tantrums
chpo_term: 异常发脾气
id: HP:0040195
hpo_term: Decreased head circumference
chpo_term: 头围减小
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
Disease (ORPHA:100989):
SPG8
Autosomal dominant spastic paraplegia type 8

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:0002314
hpo_term: Degeneration of the lateral corticospinal tracts
chpo_term: 皮质脊髓侧束变性
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002406
hpo_term: Limb dysmetria
chpo_term: 肢体辨距不良
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
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:67036):
OPA3, autosomal dominant
Autosomal dominant optic atrophy type 3
Autosomal dominant optic atrophy and cataract

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
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:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0010924
hpo_term: Posterior cortical cataract
chpo_term: 后皮质型白内障
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0000552
hpo_term: Tritanomaly
chpo_term: 蓝色弱
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000642
hpo_term: Red-green dyschromatopsia
chpo_term: 红绿色觉障碍
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0006248
hpo_term: Limited wrist movement
chpo_term: 腕部运动受限
id: HP:0007076
hpo_term: Extrapyramidal muscular rigidity
chpo_term: 锥体外系肌强直
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0007795
hpo_term: Anterior cortical cataract
chpo_term: 前皮质性白内障
id: HP:0007976
hpo_term: Cerulean cataract
chpo_term: 蔚蓝白内障
id: HP:0009468
hpo_term: Deviation of the 2nd finger
chpo_term: 第二指偏离
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0010923
hpo_term: Anterior subcapsular cataract
chpo_term: 前囊下白内障
Disease (ORPHA:100985):
Autosomal dominant spastic paraplegia type 4
SPG4

Associated phenotypes (HPO):
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006938
hpo_term: Impaired vibration sensation at ankles
chpo_term: 脚踝振动觉障碍
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
Disease (ORPHA:100986):
Autosomal recessive spastic paraplegia type 5A
SPG5A

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
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:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0006986
hpo_term: Upper limb spasticity
chpo_term: 上肢痉挛
id: HP:0009129
hpo_term: Upper limb amyotrophy
chpo_term: 上肢肌萎缩
Disease (ORPHA:100988):
Autosomal dominant spastic paraplegia type 6
SPG6

Associated phenotypes (HPO):
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0010505
hpo_term: Limitation of movement at ankles
chpo_term: 踝关节运动受限
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
Disease (ORPHA:93317):
Spondylometaphyseal dysplasia, Sedaghatian type

Associated phenotypes (HPO):
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000782
hpo_term: Abnormal scapula morphology
chpo_term: 肩胛骨形态异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003085
hpo_term: Long fibula
chpo_term: 长腓骨
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004991
hpo_term: Rhizomelic arm shortening
chpo_term: 肢根型手臂缩短
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0006543
hpo_term: Cardiorespiratory arrest
chpo_term: 心跳呼吸骤停
id: HP:0008786
hpo_term: Iliac crest serration
chpo_term: 髂嵴锯齿状缘
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
Disease (ORPHA:2457):
MAD
Mandibuloacral dysplasia

Associated phenotypes (HPO):
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:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0000468
hpo_term: Increased adipose tissue around the neck
chpo_term: 颈周脂肪组织增多
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0003635
hpo_term: Loss of subcutaneous adipose tissue in limbs
chpo_term: 四肢皮下脂肪组织丢失
id: HP:0005781
hpo_term: Contractures of the large joints
chpo_term: 大关节挛缩
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001870
hpo_term: Acroosteolysis of distal phalanges (feet)
chpo_term: 远节趾骨肢端溶骨
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003809
hpo_term: Reduced intrathoracic adipose tissue
chpo_term: 胸内脂肪组织减少
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008993
hpo_term: Increased intraabdominal fat
chpo_term: 腹内脂肪增多
id: HP:0009003
hpo_term: Increased subcutaneous truncal adipose tissue
chpo_term: 躯干部皮下脂肪组织增多
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0011334
hpo_term: Facial shape deformation
chpo_term: 脸型异常
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:0030809
hpo_term: Abnormal tongue morphology
chpo_term: 舌头形态异常
Disease (ORPHA:2456):
Isolated polythelia
Familial supernumerary nipples

Associated phenotypes (HPO):
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
Disease (ORPHA:1125):
Ocular motor apraxia, Cogan type
Oculomotor apraxia, Cogan type

Associated phenotypes (HPO):
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001151
hpo_term: Impaired horizontal smooth pursuit
chpo_term: 水平平滑追随眼动受损
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
Disease (ORPHA:1123):
Caudal appendage-deafness syndrome
Lynch-Lee-Murday syndrome
Caudal appendage-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002825
hpo_term: Caudal appendage
chpo_term: 尾部附属物
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008610
hpo_term: Infantile sensorineural hearing impairment
chpo_term: 婴幼儿感音神经性听力损失
id: HP:0011297
hpo_term: Abnormal digit morphology
chpo_term: 手指/脚趾形态异常
Disease (ORPHA:93316):
Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia with severe genu valgum
Spondylometaphyseal dysplasia, Schmidt type

Associated phenotypes (HPO):
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002867
hpo_term: Abnormal ilium morphology
chpo_term: 髂骨形态异常
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0010574
hpo_term: Abnormality of the epiphysis of the femoral head
chpo_term: 股骨头骨骺异常
id: HP:0100866
hpo_term: Short iliac bones
chpo_term: 短髂骨
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003796
hpo_term: Irregular iliac crest
chpo_term: 髂嵴不规则
id: HP:0008833
hpo_term: Irregular acetabular roof
chpo_term: 不规则髋臼顶
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
Disease (ORPHA:1122):
Van den Berghe-Dequecker syndrome
Ulnar hypoplasia-lobster-claw deformity of feet syndrome
Ulnar hypoplasia-split foot syndrome

Associated phenotypes (HPO):
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
Disease (ORPHA:1120):
Mardini-Nyhan syndrome
Lung agenesis-heart defect-thumb anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001772
hpo_term: Talipes equinovalgus
chpo_term: 马蹄外翻足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0006695
hpo_term: Atrioventricular canal defect
chpo_term: 房室管缺损
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
id: HP:0011039
hpo_term: Abnormal helix morphology
chpo_term: 耳轮形态异常
Disease (ORPHA:90283):
Lupus erythematosus tumidus
Intermittent cutaneous lupus

Associated phenotypes (HPO):
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0031191
hpo_term: Deep dermal perivascular inflammatory infiltrate
chpo_term: 真皮深层血管周围炎性浸润
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0030351
hpo_term: Urticarial plaque
chpo_term: 荨麻疹性斑块
id: HP:0032235
hpo_term: Anti-La/SS-B antibody positivity
chpo_term: 抗 La/SS-B 抗体阳性
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0007483
hpo_term: Depigmentation/hyperpigmentation of skin
chpo_term: 皮肤色素脱失/色素沉着
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
Disease (ORPHA:1129):
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Kosztolanyi syndrome

Associated phenotypes (HPO):
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010539
hpo_term: Thin calvarium
chpo_term: 颅骨薄
id: HP:0010565
hpo_term: Aplasia/Hypoplasia of the Epiglottis
chpo_term: 会厌的发育缺陷/不全
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停