TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620384):
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2
Auditory neuropathy, autosomal dominant 2

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001963
hpo_term: Abnormal speech discrimination
chpo_term: 言语辨别异常
Disease (OMIM:610247):
Esophagitis, eosinophilic, 1
ESOPHAGITIS, EOSINOPHILIC, 1

Associated phenotypes (HPO):
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0410019
hpo_term: Epigastric pain
chpo_term: 上腹部疼痛
Disease (OMIM:616636):
Immunodeficiency 44
IMMUNODEFICIENCY 44

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0020088
hpo_term: Post-vaccination measles
chpo_term: 接种麻疹减毒活疫苗后感染
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0040204
hpo_term: Elevated CSF neopterin level
chpo_term: 脑脊液新喋呤水平升高
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
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:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
Disease (OMIM:616622):
Immunodeficiency 42
IMMUNODEFICIENCY 42

Associated phenotypes (HPO):
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0011370
hpo_term: Recurrent cutaneous fungal infections
chpo_term: 复发性皮肤真菌感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0020087
hpo_term: BCGosis
chpo_term: 接种卡介苗后远处或播散性感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:613982):
Osteogenesis imperfecta, type VI
OSTEOGENESIS IMPERFECTA, TYPE VI

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0003179
hpo_term: Protrusio acetabuli
chpo_term: 髋臼内陷
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033154
hpo_term: Elevated circulating deoxypyridinoline concentration
chpo_term: 循环脱氧吡啶浓度升高
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0006488
hpo_term: Bowing of the arm
chpo_term: 手臂弯曲
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:270750):
SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
Spastic paraplegia 23

Associated phenotypes (HPO):
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0005586
hpo_term: Hyperpigmentation in sun-exposed areas
chpo_term: 晒斑，日光性色素沉着
id: HP:0004771
hpo_term: Premature graying of body hair
chpo_term: 体毛过早变白
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:612444):
Ciliary dyskinesia, primary, 9, with or without situs inversus
CILIARY DYSKINESIA, PRIMARY, 9

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0012256
hpo_term: Absent outer dynein arms
chpo_term: 外动力蛋白臂缺失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:187360):
TEMPORAL ARTERITIS
Temporal arteritis

Associated phenotypes (HPO):
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0008030
hpo_term: Retinal arteritis
chpo_term: 视网膜动脉炎
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614035):
Deafness, autosomal recessive 29
DEAFNESS, AUTOSOMAL RECESSIVE 29

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:614753):
Malan syndrome
SOTOS SYNDROME 2

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
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:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0430029
hpo_term: Hyperplasia of the premaxilla
chpo_term: 前颌骨增生
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:219080):
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
ACTH-independent macronodular adrenal hyperplasia

Associated phenotypes (HPO):
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0008231
hpo_term: Macronodular adrenal hyperplasia
chpo_term: 大结节性肾上腺皮质增生症
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0008221
hpo_term: Adrenal hyperplasia
chpo_term: 肾上腺增生
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001579
hpo_term: Primary hypercortisolism
chpo_term: 原发性皮质醇增多症
Disease (OMIM:601438):
RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE
Rhizomelic dysplasia, Patterson-Lowry type

Associated phenotypes (HPO):
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0005687
hpo_term: Deformed humeral heads
chpo_term: 肱骨头变形
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
Disease (OMIM:610535):
Glaucoma 1, open angle, M
GLAUCOMA 1, OPEN ANGLE, M

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0012108
hpo_term: Open angle glaucoma
chpo_term: 开角型青光眼
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:120450):
Comedones, familial dyskeratotic
COMEDONES, FAMILIAL DYSKERATOTIC

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:207731):
APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA
Aplasia cutis congenita with intestinal lymphangiectasia

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002593
hpo_term: Intestinal lymphangiectasia
chpo_term: 肠淋巴管扩张
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0004471
hpo_term: Aplasia cutis congenita over the scalp vertex
chpo_term: 先天性头顶部表皮发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000245
hpo_term: Abnormal paranasal sinus morphology
chpo_term: 副鼻窦形态异常
Disease (OMIM:601809):
SPONDYLOSPINAL THORACIC DYSOSTOSIS
Spondylospinal thoracic dysostosis

Associated phenotypes (HPO):
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001040
hpo_term: Multiple pterygia
chpo_term: 多发翼状胬肉
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:610910):
PULMONARY ALVEOLAR PROTEINOSIS, ACQUIRED
Pulmonary alveolar proteinosis, acquired

Associated phenotypes (HPO):
id: HP:0003587
hpo_term: Insidious onset
chpo_term: 隐袭发病
id: HP:0025044
hpo_term: Lung abscess
chpo_term: 肺脓肿
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0020050
hpo_term: Anti-granulocyte-macrophage colony stimulating factor antibody positivity
chpo_term: 抗粒细胞-巨噬细胞集落刺激因子抗体阳性
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0031996
hpo_term: Inspiratory crackles
chpo_term: 吸气性爆裂音
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0045051
hpo_term: Decreased DLCO
chpo_term: 一氧化碳弥散量减少
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
Disease (OMIM:618394):
Immunodeficiency 60
IMMUNODEFICIENCY 60

Associated phenotypes (HPO):
id: HP:0005425
hpo_term: Recurrent sinopulmonary infections
chpo_term: 反复鼻窦及肺感染
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0031808
hpo_term: Decreased basophil count
chpo_term: 嗜碱性粒细胞计数减低
id: HP:0030374
hpo_term: Decreased proportion of memory B cells
chpo_term: 记忆性B细胞比例减低
id: HP:0032229
hpo_term: Perinuclear antineutrophil antibody positivity
chpo_term: 核周抗中性粒细胞抗体阳性
id: HP:0100279
hpo_term: Ulcerative colitis
chpo_term: 溃疡性结肠炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:619934):
Intellectual developmental disorder, autosomal dominant 68
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000387
hpo_term: Absent earlobe
chpo_term: 耳垂缺失
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0004283
hpo_term: Narrow palm
chpo_term: 手掌狭窄
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0009183
hpo_term: Joint contracture of the 5th finger
chpo_term: 第五指关节挛缩
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
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:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:612691):
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
Polymicrogyria, bilateral temporooccipital

Associated phenotypes (HPO):
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033258
hpo_term: Sudden unexpected death in epilepsy
chpo_term: 癫痫猝死症
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:602482):
AXENFELD-RIEGER SYNDROME, TYPE 3
Axenfeld-Rieger syndrome, type 3

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0009918
hpo_term: Ectopia pupillae
chpo_term: 瞳孔异位
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011484
hpo_term: Posterior synechiae of the anterior chamber
chpo_term: 虹膜后粘连
id: HP:0011120
hpo_term: Concave nasal ridge
chpo_term: 凹鼻嵴
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:620145):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
Developmental and epileptic encephalopathy 109

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0025682
hpo_term: Crouch gait
chpo_term: 蹲伏步态
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
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:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0034197
hpo_term: Third trimester onset
chpo_term: 孕晚期起病
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛