TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620668):
IMMUNODEFICIENCY 117
Immunodeficiency 117, mycobacteriosis, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002840
hpo_term: Lymphadenitis
chpo_term: 淋巴结炎
id: HP:0033605
hpo_term: Pustular rash
chpo_term: 脓疱疹
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0410377
hpo_term: Decreased proportion of naive CD8 T cells
chpo_term: 初始CD8 T 细胞比例减低
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0410395
hpo_term: Increased proportion of effector memory CD8-positive, alpha-beta T cells
chpo_term: 效应记忆性CD8+的α-β T细胞比例增高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032256
hpo_term: Histoplasmosis
chpo_term: 组织胞浆菌病
id: HP:0034752
id: HP:0100721
hpo_term: Mediastinal lymphadenopathy
chpo_term: 纵膈淋巴结病
id: HP:0032261
hpo_term: Nontuberculous mycobacterial pulmonary infection
chpo_term: 非结核分枝杆菌肺部感染
id: HP:0032283
hpo_term: Disseminated nontuberculous mycobacterial infection
chpo_term: 播散性非结核分枝杆菌感染
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0030381
hpo_term: Increased proportion of transitional B cells
chpo_term: 过渡性 B 细胞比例增高
id: HP:0500265
hpo_term: Increased proportion of CD8-positive, alpha-beta TEMRA T cells
chpo_term: CD8阳性的终末效应性α-β T细胞比例增高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0410389
hpo_term: Decreased proportion of central memory CD8-positive, alpha-beta T cells
chpo_term: 中央记忆性CD4+，α-β T细胞比例减低
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0020086
hpo_term: BCGitis
chpo_term: 接种卡介苗后局部或周边感染
id: HP:0020087
hpo_term: BCGosis
chpo_term: 接种卡介苗后远处或播散性感染
id: HP:0003261
hpo_term: Increased circulating IgA level
chpo_term: 循环IgA升高
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0430108
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620126):
PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE
Pseudohypoaldosteronism, type IB3, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:254450):
MYELOFIBROSIS
Myelofibrosis with myeloid metaplasia, somatic

Associated phenotypes (HPO):
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0005547
hpo_term: Myeloproliferative disorder
chpo_term: 骨髓增生性疾病
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
Disease (OMIM:616494):
Leukodystrophy, hypomyelinating, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:617952):
Osteogenesis imperfecta, type XVIII
OSTEOGENESIS IMPERFECTA, TYPE XVIII

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0040160
hpo_term: Generalized osteoporosis
chpo_term: 全身性骨质疏松症
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:219550):
CYSTEINE PEPTIDURIA
Cysteine peptiduria

Associated phenotypes (HPO):
id: HP:0010918
hpo_term: Abnormal circulating cysteine concentration
chpo_term: 半胱氨酸代谢异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010895
hpo_term: Abnormal circulating glycine concentration
chpo_term: 甘氨酸代谢异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:147480):
Cholestasis, intrahepatic, of pregnancy, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1

Associated phenotypes (HPO):
id: HP:0200150
hpo_term: Increased serum bile acid concentration during pregnancy
chpo_term: 孕期血清胆汁酸浓度增高
id: HP:0200148
hpo_term: Abnormal liver function tests during pregnancy
chpo_term: 孕期肝功能检查异常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
Disease (OMIM:167750):
PANCREAS, ANNULAR
Pancreas, annular

Associated phenotypes (HPO):
id: HP:0100867
hpo_term: Duodenal stenosis
chpo_term: 十二指肠狭窄
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0005250
hpo_term: High intestinal obstruction
chpo_term: 高位肠梗阻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:606693):
Kufor-Rakeb syndrome
KUFOR-RAKEB SYNDROME

Associated phenotypes (HPO):
id: HP:0008969
hpo_term: Leg muscle stiffness
chpo_term: 腿部肌肉僵硬
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0030902
hpo_term: Palmomental reflex
chpo_term: 掌颌反射
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
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:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002425
hpo_term: Anarthria
chpo_term: 构音障碍
id: HP:0002304
hpo_term: Akinesia
chpo_term: 运动不能
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:611489):
CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
Corticosteroid-binding globulin deficiency

Associated phenotypes (HPO):
id: HP:0003750
hpo_term: Increased muscle fatiguability
chpo_term: 肌肉易疲劳
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:6000243
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012364
hpo_term: Decreased urinary potassium
chpo_term: 尿钾降低
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0025406
hpo_term: Asthenia
chpo_term: 虚弱
Disease (OMIM:610797):
Epiphyseal dysplasia, Baumann type
EPIPHYSEAL DYSPLASIA, BAUMANN TYPE

Associated phenotypes (HPO):
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003275
hpo_term: Narrow pelvis bone
chpo_term: 骨盆狭窄
id: HP:0004231
hpo_term: Carpal bone aplasia
chpo_term: 腕骨发育不全
id: HP:0010048
hpo_term: Aplasia of metacarpal bones
chpo_term: 掌骨不发育
id: HP:0009196
hpo_term: Absent metacarpal epiphyses
chpo_term: 掌骨骨骺缺失
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0008802
hpo_term: Hypoplasia of the femoral head
chpo_term: 股骨头发育低下
id: HP:0003799
hpo_term: Marked delay in bone age
chpo_term: 骨龄显著延迟
Disease (OMIM:615837):
Deafness, autosomal recessive 101
DEAFNESS, AUTOSOMAL RECESSIVE 101

Associated phenotypes (HPO):
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
Disease (OMIM:615604):
L-ferritin deficiency, dominant and recessive
L-FERRITIN DEFICIENCY

Associated phenotypes (HPO):
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0012343
hpo_term: Decreased circulating ferritin concentration
chpo_term: 血清铁蛋白降低
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617013):
Hypermanganesemia with dystonia 2
HYPERMANGANESEMIA WITH DYSTONIA 2

Associated phenotypes (HPO):
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0005216
hpo_term: Impaired mastication
chpo_term: 咀嚼功能受损
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012407
hpo_term: Scissor gait
chpo_term: 剪刀步态
id: HP:0012048
hpo_term: Oromandibular dystonia
chpo_term: 口下颌肌张力障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0006895
hpo_term: Lower limb hypertonia
chpo_term: 下肢肌张力增高
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0032097
hpo_term: Hypermanganesemia
chpo_term: 高锰血症
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:607200):
Thyroid dyshormonogenesis 6
THYROID DYSHORMONOGENESIS 6

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
Disease (OMIM:608133):
RETINITIS PIGMENTOSA 7
Retinitis pigmentosa 7

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007830
hpo_term: Adult-onset night blindness
chpo_term: 成人发病夜盲症
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:619758):
Tessadori-van Haaften neurodevelopmental syndrome 1
TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1

Associated phenotypes (HPO):
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
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:0040262
hpo_term: Glue ear
chpo_term: 胶耳
id: HP:0031624
hpo_term: Moderate myopia
chpo_term: 中度近视
id: HP:0034185
hpo_term: Median pseudocleft lip
chpo_term: 假性正中唇裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0005564
hpo_term: Absence of renal corticomedullary differentiation
chpo_term: 肾皮髓质分界消失
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:619980):
Braddock-Carey syndrome 1
BRADDOCK-CAREY SYNDROME 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0025578
hpo_term: Aortic valve prolapse
chpo_term: 主动脉瓣脱垂
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600209):
Exostoses, multiple, type III
EXOSTOSES, MULTIPLE, TYPE III

Associated phenotypes (HPO):
id: HP:0002762
hpo_term: Multiple exostoses
chpo_term: 多发性外生骨疣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:152700):
Systemic lupus erythematosus
SYSTEMIC LUPUS ERYTHEMATOSUS

Associated phenotypes (HPO):
id: HP:0002102
hpo_term: Pleuritis
chpo_term: 胸膜炎
id: HP:0033726
hpo_term: Lupus nephritis
chpo_term: 狼疮性肾炎
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎