TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:3003):
Pyknoachondrogenesis
Camera syndrome

Associated phenotypes (HPO):
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0002694
hpo_term: Sclerosis of skull base
chpo_term: 颅底硬化
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0008817
hpo_term: Aplastic pubic bones
chpo_term: 耻骨发育不全
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0011338
hpo_term: Abnormality of mouth shape
chpo_term: 嘴形异常
id: HP:0011867
hpo_term: Abnormal iliac wing morphology
chpo_term: 髂骨翼形态异常
id: HP:0012790
hpo_term: Abnormal intramembranous ossification
chpo_term: 膜内骨化异常
id: HP:0030290
hpo_term: Unossified sacrum
chpo_term: 骶骨未骨化
id: HP:0040194
hpo_term: Increased head circumference
chpo_term: 头围增加
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
id: HP:0100748
hpo_term: Muscular edema
chpo_term: 肌肉水肿
id: HP:0100856
hpo_term: Poorly ossified vertebrae
chpo_term: 椎骨骨化不良
id: HP:0100866
hpo_term: Short iliac bones
chpo_term: 短髂骨
Disease (ORPHA:3004):
Mirror polydactyly-vertebral segmentation-limbs defects syndrome

Associated phenotypes (HPO):
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
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:0005359
hpo_term: Aplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
Disease (ORPHA:3005):
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
Pyle disease

Associated phenotypes (HPO):
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0003051
hpo_term: Enlarged metaphyses
chpo_term: 干骺端膨大
id: HP:0005464
hpo_term: Craniofacial osteosclerosis
chpo_term: 颅面骨硬化
id: HP:0006599
hpo_term: Medial widening of clavicles
chpo_term: 锁骨内侧增宽
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0010539
hpo_term: Thin calvarium
chpo_term: 颅骨薄
Disease (ORPHA:3006):
Pyridoxine-dependent epilepsy
Vitamin B6-dependent seizures
Antiquitin deficiency
Pyridoxine-dependent-developmental and epileptic encephalopathy

Associated phenotypes (HPO):
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001557
hpo_term: Prenatal movement abnormality
chpo_term: 产前胎动异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011152
hpo_term: Early onset absence seizures
chpo_term: 早发性失神发作
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0020217
hpo_term: Focal aware motor seizure
chpo_term: 清醒状态局灶性运动癫痫发作
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0030917
hpo_term: Low APGAR score
chpo_term: 低APGAR评分
id: HP:0000273
hpo_term: Facial grimacing
chpo_term: 面部表情痛苦
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0011199
hpo_term: EEG with generalized sharp slow waves
chpo_term: 脑电图，伴广泛性尖慢波
id: HP:0012420
hpo_term: Meconium stained amniotic fluid
chpo_term: 羊水污染、羊水混浊
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
Disease (ORPHA:513436):
SPG78
Autosomal recessive spastic paraplegia type 78

Associated phenotypes (HPO):
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003482
hpo_term: EMG: axonal abnormality
chpo_term: 肌电图：轴突异常
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:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000317
hpo_term: Facial myokymia
chpo_term: 面肌颤搐
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
Disease (ORPHA:47159):
Renal tubular acidosis type 2
Proximal renal tubular acidosis
pRTA

Associated phenotypes (HPO):
id: HP:0004910
hpo_term: Bicarbonate-wasting renal tubular acidosis
chpo_term: 碳酸氢盐流失性肾小管酸中毒
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0003646
hpo_term: Bicarbonaturia
chpo_term: 尿重碳酸氢盐增多
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000585
hpo_term: Band keratopathy
chpo_term: 带状角膜病
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001530
hpo_term: Mild postnatal growth retardation
chpo_term: 轻度产后发育迟缓
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0003126
hpo_term: Low-molecular-weight proteinuria
chpo_term: 低分子量蛋白尿
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0006285
hpo_term: Enamel hypomineralization
chpo_term: 牙釉质矿化不足
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0012573
hpo_term: Global proximal tubulopathy
chpo_term: 全近端肾小管病
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:1292):
BOD syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Senior syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0001857
hpo_term: Short distal phalanx of toe
chpo_term: 末节跖骨短小
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0008398
hpo_term: Hypoplastic fifth fingernail
chpo_term: 第5指甲发育不良
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0009890
hpo_term: High anterior hairline
chpo_term: 前发际高
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
Disease (ORPHA:329308):
Fatty acid hydroxylase-associated neurodegeneration
FAHN

Associated phenotypes (HPO):
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002427
hpo_term: Expressive aphasia
chpo_term: 运动性失语
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0006827
hpo_term: Atrophy of the spinal cord
chpo_term: 脊髓萎缩
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0007153
hpo_term: Progressive extrapyramidal movement disorder
chpo_term: 进行性锥体外系功能障碍
id: HP:0007199
hpo_term: Progressive spastic paraparesis
chpo_term: 进行性痉挛性轻瘫
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0030584
hpo_term: Color vision test abnormality
chpo_term: 色觉测试异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
Disease (ORPHA:306674):
PARK9
Kufor-Rakeb syndrome

Associated phenotypes (HPO):
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007350
hpo_term: Hyperreflexia in upper limbs
chpo_term: 上肢反射亢进
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0011446
hpo_term: Abnormality of higher mental function
chpo_term: 高级精神功能异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000643
hpo_term: Blepharospasm
chpo_term: 眼睑痉挛
id: HP:0000658
hpo_term: Eyelid apraxia
chpo_term: 眼睑失用症
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
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:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
id: HP:0031008
hpo_term: Lingual dystonia
chpo_term: 舌肌肌张力障碍
Disease (ORPHA:35173):
CDPXD
CDPX2
CPXD
Chondrodystrophia calcificans congenita
X-linked dominant chondrodysplasia punctata
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2

Associated phenotypes (HPO):
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004468
hpo_term: Anomalous tracheal cartilage
chpo_term: 气管软骨异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006619
hpo_term: Anterior rib punctate calcifications
chpo_term: 肋骨前端点状钙化
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0100569
hpo_term: Abnormally ossified vertebrae
chpo_term: 椎骨异常骨化
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001197
hpo_term: Abnormality of prenatal development or birth
chpo_term: 胎儿产前发育或出生异常
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0005756
hpo_term: Neonatal epiphyseal stippling
chpo_term: 新生儿骨骺点状钙化
id: HP:0008434
hpo_term: Hypoplastic cervical vertebrae
chpo_term: 颈椎发育不良
id: HP:0008443
hpo_term: Neuropathic spinal arthropathy
chpo_term: 神经性脊柱关节病
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
Disease (ORPHA:1297):
BOFS
Branchio-oculo-facial syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
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:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000987
hpo_term: Atypical scarring of skin
chpo_term: 非典型皮肤瘢痕
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004464
hpo_term: Postauricular pit
chpo_term: 耳后凹陷
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0008606
hpo_term: Supraauricular pit
chpo_term: 耳前瘘管
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0100268
hpo_term: Upper lip pit
chpo_term: 上唇点凹
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0100798
hpo_term: Fingernail dysplasia
chpo_term: 指甲发育不良
Disease (ORPHA:179494):
Obesity due to leptin receptor gene deficiency

Associated phenotypes (HPO):
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
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:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0005419
hpo_term: Decreased T cell activation
chpo_term: T细胞活化降低
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症