TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:420492):
Adult-onset cervical dystonia, DYT23 type
Dystonia 23
DYT23

Associated phenotypes (HPO):
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0012179
hpo_term: Craniofacial dystonia
chpo_term: 头面部肌张力障碍
id: HP:0012893
hpo_term: Neck muscle hypertrophy
chpo_term: 颈部肌肉肥大
id: HP:0200085
hpo_term: Limb tremor
chpo_term: 肢体震颤
id: HP:0002883
hpo_term: Hyperventilation
chpo_term: 过度通气
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
Disease (ORPHA:93283):
Spondyloepiphyseal dysplasia, Kimberley type

Associated phenotypes (HPO):
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
Disease (ORPHA:261344):
Duplication 1q
Trisomy 1q syndrome

Associated phenotypes (HPO):
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000356
hpo_term: Abnormality of the outer ear
chpo_term: 外耳异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
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:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008386
hpo_term: Aplasia/Hypoplasia of the nails
chpo_term: 甲发育缺陷/不全
id: HP:0008676
hpo_term: Congenital megaureter
chpo_term: 先天性巨输尿管症
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:46059):
Lathosterolosis
Sterol C5-desaturase deficiency

Associated phenotypes (HPO):
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
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:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
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: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:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
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:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0008278
hpo_term: Cerebellar cortical atrophy
chpo_term: 小脑皮质萎缩
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0011875
hpo_term: Abnormal platelet morphology
chpo_term: 血小板形态异常
id: HP:0100711
hpo_term: Abnormal thoracic spine morphology
chpo_term: 胸椎形态异常
Disease (ORPHA:1084):
Isolated lissencephaly type 1 without known genetic defects

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011201
hpo_term: EEG with changes in voltage
chpo_term: 脑电图，电压变化
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0020219
hpo_term: Motor seizure
chpo_term: 运动性癫痫发作
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
id: HP:0100952
hpo_term: Enlarged sylvian cistern
chpo_term: 侧裂池扩大
Disease (ORPHA:1083):
Microlissencephaly

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0007190
hpo_term: Neuronal loss in the cerebral cortex
chpo_term: 大脑皮质中神经元损失
id: HP:0007266
hpo_term: Cerebral dysmyelination
chpo_term: 脑髓鞘形成障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0006891
hpo_term: Thick cerebral cortex
chpo_term: 大脑皮层增厚
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0032391
hpo_term: Subcortical heterotopia
chpo_term: 皮层下异位症
Disease (ORPHA:411543):
Severe phosphoribosylpyrophosphate synthetase superactivity
Severe PRPS1 superactivity
Severe PRPP synthetase superactivity

Associated phenotypes (HPO):
id: HP:0000791
hpo_term: Uric acid nephrolithiasis
chpo_term: 肾尿酸结石
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
id: HP:0003240
hpo_term: Increased phosphoribosylpyrophosphate synthetase level
chpo_term: 磷酸核糖焦磷酸合成酶增高
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0020074
hpo_term: Crystalluria
chpo_term: 结晶尿
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
Disease (ORPHA:98969):
Macular corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
MCD

Associated phenotypes (HPO):
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007856
hpo_term: Punctate opacification of the cornea
chpo_term: 角膜的点状混浊
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0100689
hpo_term: Decreased corneal thickness
chpo_term: 角膜厚度降低
id: HP:0000484
hpo_term: Hyperopic astigmatism
chpo_term: 远视散光
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
Disease (ORPHA:398124):
Neonatal lupus erythematosus

Associated phenotypes (HPO):
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001678
hpo_term: Atrioventricular block
chpo_term: 房室传导阻滞
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012722
hpo_term: Heart block
chpo_term: 心脏传导阻滞
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001915
hpo_term: Aplastic anemia
chpo_term: 再生障碍性贫血
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0011702
hpo_term: Abnormal electrophysiology of sinoatrial node origin
chpo_term: 窦房结源性电生理异常
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
Disease (ORPHA:827):
Stargardt 1
Stargardt disease
Fundus flavimaculatus

Associated phenotypes (HPO):
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000493
hpo_term: Abnormal foveal morphology
chpo_term: 黄斑中央凹形态异常
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0007704
hpo_term: Paroxysmal involuntary eye movements
chpo_term: 阵发性不自主眼球运动
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0008002
hpo_term: Abnormality of macular pigmentation
chpo_term: 黄斑色素沉着异常
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
id: HP:0008059
hpo_term: Aplasia/Hypoplasia of the macula
chpo_term: 黄斑发育缺陷/不全
id: HP:0030500
hpo_term: Yellow/white lesions of the macula
chpo_term: 黄斑黄/白病变
id: HP:0030786
hpo_term: Photopsia
chpo_term: 闪光感
Disease (ORPHA:824):
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Osteomyelofibrosis
Primary myelofibrosis
Myelofibrosis with myeloid metaplasia

Associated phenotypes (HPO):
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0011134
hpo_term: Low-grade fever
chpo_term: 低热
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004377
hpo_term: Hematological neoplasm
chpo_term: 血液肿瘤
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:93274):
TD2
Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome
Thanatophoric dwarfism-cloverleaf skull syndrome
Thanatophoric dwarfism type 2

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:444463):
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TRIANGLE disease
Evans syndrome associated with primary immunodeficiency
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II

Associated phenotypes (HPO):
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0011947
hpo_term: Respiratory tract infection
chpo_term: 呼吸道感染
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
Disease (ORPHA:98962):
Corneal dystrophy Groenouw type I
Classic GCD
Classic granular corneal dystrophy
GCD1
GCDI
Granular corneal dystrophy type 1
Granular corneal dystrophy type I

Associated phenotypes (HPO):
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0007881
hpo_term: Central corneal dystrophy
chpo_term: 中央角膜营养不良
id: HP:0000495
hpo_term: Recurrent corneal erosions
chpo_term: 复发性角膜糜烂
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0011493
hpo_term: Central opacification of the cornea
chpo_term: 角膜的中央混浊
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008039
hpo_term: Subepithelial corneal opacities
chpo_term: 上皮下角膜混浊
id: HP:0011495
hpo_term: Abnormal corneal epithelium morphology
chpo_term: 角膜上皮形态异常
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
Disease (ORPHA:822):
Hereditary spherocytosis
Minkowski-Chauffard disease

Associated phenotypes (HPO):
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0005525
hpo_term: Spontaneous hemolytic crises
chpo_term: 自发性溶血危象
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0025548
hpo_term: Increased mean corpuscular hemoglobin concentration
chpo_term: 红细胞平均血红蛋白量增多
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001723
hpo_term: Restrictive cardiomyopathy
chpo_term: 限制型心肌病
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0025143
hpo_term: Chills
chpo_term: 寒栗
id: HP:0040186
hpo_term: Maculopapular exanthema
chpo_term: 斑丘疹样皮疹
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡