TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620286):
MYOPATHY, SARCOPLASMIC BODY
Myopathy, sarcoplasmic body

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0034722
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:619407):
WHIM syndrome 2
WHIM SYNDROME 2

Associated phenotypes (HPO):
id: HP:0031160
hpo_term: Myelokathexis
chpo_term: 无效生成性慢性粒细胞缺乏
id: HP:0034284
hpo_term: Recurrent gingivitis
chpo_term: 复发性龈炎
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0410252
hpo_term: Chronic neutropenia
chpo_term: 慢性中性粒细胞减少症
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
Disease (OMIM:251850):
Diarrhea 2, with microvillous atrophy
DIARRHEA 2, WITH MICROVILLUS ATROPHY

Associated phenotypes (HPO):
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:226400):
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
Epidermodysplasia verruciformis, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
Disease (OMIM:115700):
Cataract, crystalline aculeiform
CATARACT 4, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600142):
CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

Associated phenotypes (HPO):
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0010521
hpo_term: Gait apraxia
chpo_term: 步态失用
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0100546
hpo_term: Carotid artery stenosis
chpo_term: 颈动脉狭窄
id: HP:0007162
hpo_term: Diffuse demyelination of the cerebral white matter
chpo_term: 脑白质弥漫性脱髓鞘
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0007204
hpo_term: Diffuse white matter abnormalities
chpo_term: 弥漫性脑白质异常
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0004931
hpo_term: Arteriosclerosis of small cerebral arteries
chpo_term: 脑小动脉硬化
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0032325
hpo_term: Lacunar stroke
chpo_term: 腔隙性中风
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
Disease (OMIM:620292):
NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0031627
hpo_term: Globus pallidus calcification
chpo_term: 苍白球钙化
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0007874
hpo_term: Almond-shaped palpebral fissure
chpo_term: 杏仁状睑裂
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:158600):
Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0011808
hpo_term: Decreased patellar reflex
chpo_term: 膝反射减弱
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010602
hpo_term: Type 2 muscle fiber predominance
chpo_term: 2型肌纤维占优势
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008956
hpo_term: Proximal lower limb amyotrophy
chpo_term: 下肢近端肌肉萎缩
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:616720):
MYASTHENIC SYNDROME, CONGENITAL, 19
Myasthenic syndrome, congenital, 19

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0020152
hpo_term: Distal joint laxity
chpo_term: 远端关节松弛
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0003546
hpo_term: Exercise intolerance
chpo_term: 运动不耐受
id: HP:0030205
hpo_term: Increased jitter at single fiber EMG
chpo_term: 单纤维肌电图时抖动增加
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:619375):
Autoinflammatory syndrome, familial, with or without immunodeficiency
AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0030388
hpo_term: Decreased proportion of class-switched memory B cells
chpo_term: 类别转换型记忆性 B 细胞比例减低
id: HP:0020151
hpo_term: Anti-dsDNA antibody positivity
chpo_term: 抗双链DNA 抗体阳性
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0033631
hpo_term: Spondylitis
chpo_term: 脊柱炎
id: HP:0033028
hpo_term: Anti-U1 ribonucleoprotein antibody positivity
chpo_term: 抗U1核糖蛋白抗体阳性
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0030384
hpo_term: Decreased proportion of marginal zone B cells
chpo_term: 边缘区 B 细胞比例减低
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:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004844
hpo_term: Coombs-positive hemolytic anemia
chpo_term: Coombs试验阳性溶血性贫血
Disease (OMIM:609166):
BRANCHIOGENIC-DEAFNESS SYNDROME
Branchiogenic-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004452
hpo_term: Abnormality of the middle ear ossicles
chpo_term: 中耳听小骨异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009795
hpo_term: Branchial fistula
chpo_term: 鳃裂瘘管
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0009796
hpo_term: Branchial cyst
chpo_term: 鳃裂囊肿
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
Disease (OMIM:600624):
CONE-ROD DYSTROPHY 1
Cone-Rod dystrophy 1

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:614651):
COENZYME Q10 DEFICIENCY, PRIMARY, 2
Coenzyme Q10 deficiency, primary, 2

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0032653
hpo_term: Elevated lactate:pyruvate ratio
chpo_term: 乳酸/丙酮酸比例升高
id: HP:0033505
hpo_term: Livedo reticularis
chpo_term: 网状青斑
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025502
hpo_term: Overweight
chpo_term: 超重
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0100739
hpo_term: Bulimia
chpo_term: 贪食症
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:258860):
OROFACIODIGITAL SYNDROME IV
Orofaciodigital syndrome IV

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000199
hpo_term: Tongue nodules
chpo_term: 舌结节
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0011802
hpo_term: Hamartoma of tongue
chpo_term: 舌错构瘤
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0001829
hpo_term: Foot polydactyly
chpo_term: 多趾
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:614889):
Immunodeficiency 28
IMMUNODEFICIENCY 28

Associated phenotypes (HPO):
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:617370):
PEROXISOME BIOGENESIS DISORDER 10B
Peroxisome biogenesis disorder 10B

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003186
hpo_term: Inverted nipples
chpo_term: 乳头内陷
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:614679):
CILIARY DYSKINESIA, PRIMARY, 17
Ciliary dyskinesia, primary, 17

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0012255
hpo_term: Dynein arm defect of respiratory motile cilia
chpo_term: 能动纤毛动力蛋白臂缺陷
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
Disease (OMIM:613116):
Thrombophilia due to histidine-rich glycoprotein deficiency
THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY

Associated phenotypes (HPO):
id: HP:0004831
hpo_term: Recurrent thromboembolism
chpo_term: 复发性血栓栓塞
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0040227
hpo_term: Decreased level of histidine-rich glycoprotein
chpo_term: 富含组氨酸的糖蛋白水平减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613670):
Mental retardation with language impairment and with or without autistic features
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
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: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:0000732
hpo_term: Inflexible adherence to routines or rituals
chpo_term: 恪守程序或习惯
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011298
hpo_term: Prominent digit pad
chpo_term: 指节垫
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618725):
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖