TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2471):
McDonough syndrome

Associated phenotypes (HPO):
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
Disease (ORPHA:2470):
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
Spear syndrome
PDAC syndrome
Anophthalmia-pulmonary hypoplasia syndrome
Matthew-Wood syndrome

Associated phenotypes (HPO):
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000130
hpo_term: Abnormality of the uterus
chpo_term: 子宫异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0025408
hpo_term: Abnormal spleen morphology
chpo_term: 脾脏形态异常
id: HP:0100800
hpo_term: Aplasia/Hypoplasia of the pancreas
chpo_term: 胰腺发育不良/发育不全
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
Disease (ORPHA:284282):
Autosomal recessive spinocerebellar ataxia type 12
SCAR12
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
Disease (ORPHA:2479):
Neuhäuser syndrome
Megalocornea-intellectual disability syndrome
MMR syndrome

Associated phenotypes (HPO):
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0009891
hpo_term: Underdeveloped supraorbital ridges
chpo_term: 眶上嵴发育不全
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0100693
hpo_term: Iridodonesis
chpo_term: 虹膜震颤
Disease (ORPHA:1147):
Distal arthrogryposis type 2B
SSH
Freeman-Sheldon syndrome variant
Distal arthrogryposis multiplex congenita type 2B
Sheldon-Hall syndrome
DA2B

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
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:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0100830
hpo_term: Round ear
chpo_term: 圆耳
Disease (ORPHA:2478):
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0005490
hpo_term: Postnatal macrocephaly
chpo_term: 出生后巨头畸形
id: HP:0007341
hpo_term: Diffuse swelling of cerebral white matter
chpo_term: 脑白质弥漫性肿胀
id: HP:6000461
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
Disease (ORPHA:1146):
Distal arthrogryposis type 1
Digitotalar dysmorphism
DA1

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:2477):
Megalencephaly
Macroencephaly
Isolated megalencephaly

Associated phenotypes (HPO):
id: HP:0000040
hpo_term: Long penis
chpo_term: 长阴茎
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0000235
hpo_term: Abnormality of the fontanelles or cranial sutures
chpo_term: 囟门或颅缝异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
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:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
Disease (ORPHA:2476):
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Medeira-Dennis-Donnai syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001543
hpo_term: Gastroschisis
chpo_term: 腹裂
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
Disease (ORPHA:1145):
Infantile-onset X-linked spinal muscular atrophy
SMAX2
X-linked distal arthrogryposis multiplex congenita
Spinal muscular atrophy with arthrogryposis
X-linked spinal muscular atrophy type 2

Associated phenotypes (HPO):
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0006802
hpo_term: Abnormal anterior horn cell morphology
chpo_term: 脊髓前角细胞形态异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0001220
hpo_term: Interphalangeal joint contracture of finger
chpo_term: 指间关节挛缩
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009071
hpo_term: Inflammatory myopathy
chpo_term: 炎症性肌病
id: HP:0020110
hpo_term: Bone fracture
chpo_term: 骨折
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002009
hpo_term: Potter facies
chpo_term: 波特面容
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:1144):
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Distal arthrogryposis type 6
Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
Disease (ORPHA:2475):
White forelock with malformations

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:75508):
Phlebectatic osteohypoplastic angiodysplasia
Angioosteohypotrophic syndrome
Servelle-Martorell syndrome

Associated phenotypes (HPO):
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0006496
hpo_term: Aplasia/hypoplasia involving bones of the upper limbs
chpo_term: 上肢骨骼发育不良/发育不全
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0040064
hpo_term: Abnormality of limbs
chpo_term: 肢体异常
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
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:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0010484
hpo_term: Hypertrophy of the upper limb
chpo_term: 上肢肥大
id: HP:0011804
hpo_term: Abnormal muscle physiology
chpo_term: 肌肉生理机能异常
id: HP:0100671
hpo_term: Abnormal trabecular bone morphology
chpo_term: 骨小梁形态异常
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0009824
hpo_term: Upper limb undergrowth
chpo_term: 上肢发育不良
Disease (ORPHA:1143):
Neurogenic arthrogryposis multiplex congenita

Associated phenotypes (HPO):
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0001239
hpo_term: Wrist flexion contracture
chpo_term: 腕关节屈曲挛缩
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
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:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008807
hpo_term: Acetabular dysplasia
chpo_term: 髋臼发育不良
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
Disease (ORPHA:2473):
Kaufman-Mckusick syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
McKusick-Kaufman syndrome

Associated phenotypes (HPO):
id: HP:0030010
hpo_term: Hydrometrocolpos
chpo_term: 子宫阴道积水
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
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: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
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
Disease (ORPHA:1149):
Arthrogryposis-like syndrome
Kuskokwim syndrome
Kuskokwim disease

Associated phenotypes (HPO):
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0006498
hpo_term: Aplasia/Hypoplasia of the patella
chpo_term: 髌骨发育不良/发育不全
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
Disease (ORPHA:100993):
SPG12
Autosomal dominant spastic paraplegia type 12

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:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
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:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
id: HP:0030014
hpo_term: Female sexual dysfunction
chpo_term: 女性性功能障碍
id: HP:0040307
hpo_term: Male sexual dysfunction
chpo_term: 男性性功能障碍
id: HP:0100561
hpo_term: Spinal cord lesion
chpo_term: 脊髓病变
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
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: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