TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:284426):
GSD due to lactate dehydrogenase M-subunit deficiency
Lactate dehydrogenase A deficiency
LDH-M subunit deficiency
Glycogenosis due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Associated phenotypes (HPO):
id: HP:0001787
hpo_term: Abnormal delivery
chpo_term: 分娩异常
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0003738
hpo_term: Exercise-induced myalgia
chpo_term: 运动诱发的肌肉痛
id: HP:0008305
hpo_term: Exercise-induced myoglobinuria
chpo_term: 运动后肌红蛋白尿
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
id: HP:0009045
hpo_term: Exercise-induced rhabdomyolysis
chpo_term: 运动诱发的横纹肌溶解
id: HP:0011356
hpo_term: Regional abnormality of skin
chpo_term: 皮肤局部异常
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0025526
hpo_term: Psoriasiform lesion
chpo_term: 银屑病样皮损
id: HP:0025528
hpo_term: Annular cutaneous lesion
chpo_term: 环状皮肤病变
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0007432
hpo_term: Intermittent generalized erythematous papular rash
chpo_term: 间歇性弥漫性红色斑丘疹
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0031190
hpo_term: Superficial dermal perivascular inflammatory infiltrate
chpo_term: 真皮浅层血管周围炎性浸润
id: HP:0031236
hpo_term: Predominantly dermal neutrophilic infiltrate
chpo_term: 嗜中性粒细胞为主真皮浸润
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
Disease (ORPHA:101112):
Spinocerebellar ataxia type 26
SCA26

Associated phenotypes (HPO):
id: HP:0001151
hpo_term: Impaired horizontal smooth pursuit
chpo_term: 水平平滑追随眼动受损
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0007240
hpo_term: Progressive gait ataxia
chpo_term: 进行性共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000641
hpo_term: Dysmetric saccades
chpo_term: 不规则扫视
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007034
hpo_term: Generalized hyperreflexia
chpo_term: 广泛性反射亢进
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
Disease (ORPHA:280062):
Calciphylaxis

Associated phenotypes (HPO):
id: HP:0000867
hpo_term: Secondary hyperparathyroidism
chpo_term: 继发性甲状旁腺功能亢进症
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003207
hpo_term: Arterial calcification
chpo_term: 动脉钙化
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0011122
hpo_term: Abnormality of skin physiology
chpo_term: 皮肤生理异常
id: HP:0011986
hpo_term: Ectopic ossification
chpo_term: 异位性骨化
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0033260
hpo_term: Livedo racemosa
chpo_term: 葡萄状青斑
Disease (ORPHA:85179):
Infantile osteopetrosis with neuroaxonal dysplasia

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001338
hpo_term: Partial agenesis of the corpus callosum
chpo_term: 局部胼胝体发育不全
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0004330
hpo_term: Increased skull ossification
chpo_term: 颅骨骨化增加
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0025517
hpo_term: Hypoplastic hippocampus
chpo_term: 海马回发育不良
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
Disease (ORPHA:85188):
Metaphyseal dysplasia, Braun-Tinschert type

Associated phenotypes (HPO):
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0002834
hpo_term: Flared femoral metaphysis
chpo_term: 喇叭状股骨干骺端
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003031
hpo_term: Ulnar bowing
chpo_term: 尺骨弯曲
id: HP:0003856
hpo_term: Upper limb metaphyseal widening
chpo_term: 上肢干骺端增宽
id: HP:0003871
hpo_term: Deformed humerus
chpo_term: 肱骨变形
id: HP:0003874
hpo_term: Humerus varus
chpo_term: 肱骨内翻
id: HP:0003985
hpo_term: Exostoses of the ulna
chpo_term: 尺骨外生骨疣
id: HP:0003986
hpo_term: Exostoses of the radius
chpo_term: 桡骨外生骨疣
id: HP:0004026
hpo_term: Broad radial metaphysis
chpo_term: 桡骨干骺端变宽
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:0006387
hpo_term: Wide distal femoral metaphysis
chpo_term: 股骨远端干骺端增宽
id: HP:0006413
hpo_term: Broad tibial metaphyses
chpo_term: 胫骨干骺端变宽
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0008783
hpo_term: Wide proximal femoral metaphysis
chpo_term: 股骨近端干骺端增宽
id: HP:0008804
hpo_term: Broad femoral head
chpo_term: 股骨头变宽
id: HP:0010498
hpo_term: Bipartite patella
chpo_term: 二分髌骨
id: HP:0010502
hpo_term: Fibular bowing
chpo_term: 腓骨弯曲
id: HP:0010540
hpo_term: Advanced pneumatization of cranial sinuses
chpo_term: 颅窦过度气化
id: HP:0010639
hpo_term: Elevated alkaline phosphatase of bone origin
chpo_term: 骨源性碱性磷酸酶升高
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0032208
hpo_term: Increased urinary type 1 collagen N-terminal telopeptide level
chpo_term: 尿1型胶原蛋白N端端肽水平升高
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
id: HP:0100916
hpo_term: Sclerosis of middle finger phalanx
chpo_term: 中节指骨硬化
id: HP:0100917
hpo_term: Sclerosis of proximal finger phalanx
chpo_term: 近节指骨硬化
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
Disease (ORPHA:85184):
Craniometadiaphyseal dysplasia, wormian bone type

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
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:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000940
hpo_term: Abnormal diaphysis morphology
chpo_term: 骨干形态异常
id: HP:0001248
hpo_term: Short tubular bones of the hand
chpo_term: 手管状骨缩短
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002703
hpo_term: Abnormality of skull ossification
chpo_term: 颅骨骨化异常
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0005446
hpo_term: Obtuse angle of mandible
chpo_term: 下颌钝角
id: HP:0006391
hpo_term: Overtubulated long bones
chpo_term: 纤细长骨
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0008438
hpo_term: Vertebral arch anomaly
chpo_term: 椎弓异常
id: HP:0009911
hpo_term: Abnormal temporal bone morphology
chpo_term: 颞骨形态异常
id: HP:0010539
hpo_term: Thin calvarium
chpo_term: 颅骨薄
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:499096):
Isolated optic neuritis
ION

Associated phenotypes (HPO):
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0030857
hpo_term: Eye movement-induced pain
chpo_term: 眼动诱发疼痛
id: HP:0032036
hpo_term: Reduced contrast sensitivity
chpo_term: 对比敏感度降低
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0200057
hpo_term: Marcus Gunn pupil
chpo_term: Marcus Gunn 瞳孔
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
id: HP:0033342
hpo_term: Anti-aquaporin 4 antibody positivity
chpo_term: 抗水通道蛋白 4 抗体阳性
Disease (ORPHA:293381):
Epithelial recurrent erosion dystrophy
Recurrent hereditary corneal erosions
Dystrophia Smolandiensis
ERED
Dystrophia Helsinglandica

Associated phenotypes (HPO):
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0031792
hpo_term: Irregular astigmatism
chpo_term: 不规则散光
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
Disease (ORPHA:280071):
Congenital disorder of glycosylation type 1p
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
CDG-Ip
ALG11-CDG
Congenital disorder of glycosylation type Ip
CDG syndrome type Ip

Associated phenotypes (HPO):
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
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:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0005968
hpo_term: Temperature instability
chpo_term: 体温不稳定
id: HP:0008000
hpo_term: Decreased corneal reflex
chpo_term: 角膜反射减退
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009124
hpo_term: Abnormal adipose tissue morphology
chpo_term: 脂肪组织形态异常
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
Disease (ORPHA:85167):
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005054
hpo_term: Metaphyseal spurs
chpo_term: 干骺端骨刺
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010583
hpo_term: Ivory epiphyses
chpo_term: 象牙化骨骺
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000887
hpo_term: Cupped ribs
chpo_term: 杯状肋骨端
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0031171
hpo_term: Femoral spur
chpo_term: 股骨骨刺
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001132
hpo_term: Lens subluxation
chpo_term: 晶状体半脱位
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0012153
hpo_term: Hypotriglyceridemia
chpo_term: 低甘油三酯血症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:85168):
Craniofacial conodysplasia

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0004439
hpo_term: Craniofacial dysostosis
chpo_term: 颅面骨发育不全
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
Disease (ORPHA:85169):
Familial digital arthropathy-brachydactyly

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004268
hpo_term: Osteoarthritis of the small joints of the hand
chpo_term: 手的小关节的骨关节炎
id: HP:0005793
hpo_term: Shortening of all distal phalanges of the toes
chpo_term: 全部脚趾远节趾骨缩短
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0006239
hpo_term: Shortening of all middle phalanges of the toes
chpo_term: 所有中节趾骨缩短
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
Disease (ORPHA:101108):
SCA23
Spinocerebellar ataxia type 23

Associated phenotypes (HPO):
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0010831
hpo_term: Impaired proprioception
chpo_term: 本体感觉障碍
Disease (ORPHA:101109):
SCA28
Spinocerebellar ataxia type 28

Associated phenotypes (HPO):
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0030186
hpo_term: Kinetic tremor
chpo_term: 动作性震颤
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:85174):
Pseudodiastrophic dysplasia

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0006243
hpo_term: Phalangeal dislocation
chpo_term: 指（趾）骨错位
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:85175):
Astley-Kendall dysplasia

Associated phenotypes (HPO):
id: HP:0002703
hpo_term: Abnormality of skull ossification
chpo_term: 颅骨骨化异常
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
Disease (ORPHA:85170):
Mesomelic dysplasia with absent fibulas and triangular tibias
Mesomelic dysplasia, Savarirayan type
Triangular tibia-fibular aplasia syndrome

Associated phenotypes (HPO):
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002868
hpo_term: Narrow iliac wing
chpo_term: 髂骨翼狭窄
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0004018
hpo_term: Flared radial metaphysis
chpo_term: 桡骨喇叭状干骺端
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006413
hpo_term: Broad tibial metaphyses
chpo_term: 胫骨干骺端变宽
id: HP:0006434
hpo_term: Hypoplasia of proximal radius
chpo_term: 近端桡骨发育低下
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006633
hpo_term: Glenoid fossa hypoplasia
chpo_term: 关节窝发育不全
id: HP:0008808
hpo_term: High iliac wing
chpo_term: 高髂骨翼
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
Disease (ORPHA:85172):
Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Associated phenotypes (HPO):
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:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004582
hpo_term: Irregularity of vertebral bodies
chpo_term: 椎体不规则
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0011833
hpo_term: Overhanging nasal tip
chpo_term: 鼻尖悬垂
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:85173):
Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome
IMAGe syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000078
hpo_term: Abnormality of the genital system
chpo_term: 生殖系统异常
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
Disease (ORPHA:521308):
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0010939
hpo_term: Abnormal nasal bone morphology
chpo_term: 鼻骨骼形态异常
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0007330
hpo_term: Frontal encephalocele
chpo_term: 额叶脑膨出
id: HP:0008115
hpo_term: Clinodactyly of the 3rd toe
chpo_term: 第三趾屈趾畸形
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍