TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618354):
NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
Neurodevelopmental disorder and language delay with or without structural brain abnormalities

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:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
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:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0011623
hpo_term: Muscular ventricular septal defect
chpo_term: 肌部室间隔缺损
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610708):
OPTIC ATROPHY 5
Optic atrophy 5

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0007924
hpo_term: Slow decrease in visual acuity
chpo_term: 视力缓慢下降
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000552
hpo_term: Tritanomaly
chpo_term: 蓝色弱
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0030455
hpo_term: Abnormality of pattern visual evoked potentials
chpo_term: 图形视觉诱发电位异常
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0025710
hpo_term: Late young adult onset
chpo_term: 青年成人晚期起病
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:620813):
MHC CLASS I DEFICIENCY 2
MHC class I deficiency 2

Associated phenotypes (HPO):
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
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
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
Disease (OMIM:609259):
Myopia 10
MYOPIA 10

Associated phenotypes (HPO):
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:617073):
TOOTH AGENESIS, SELECTIVE, 8
Tooth agenesis, selective, 8

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (OMIM:620807):
Immunodeficiency 121 with autoinflammation

Associated phenotypes (HPO):
id: HP:0410378
hpo_term: Decreased proportion of naive CD4 T cells
chpo_term: 初始CD4 T 细胞比例减低
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0020102
hpo_term: Pneumocystis jirovecii pneumonia
chpo_term: 肺孢子菌肺炎
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0031381
hpo_term: Decreased lymphocyte proliferation in response to mitogen
chpo_term: 淋巴细胞有丝分裂原应答性增殖减弱
id: HP:0032132
hpo_term: Decreased circulating total IgG
chpo_term: 血液总IgG降低
id: HP:0033221
hpo_term: Increased CD4:CD8 ratio
chpo_term: CD4:CD8 比值增高
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:252900):
Mucopolysaccharidosis type IIIA
MUCOPOLYSACCHARIDOSIS, TYPE IIIA

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001670
hpo_term: Asymmetric septal hypertrophy
chpo_term: 非对称性心室间隔肥厚
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:4000193
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003309
hpo_term: Ovoid thoracolumbar vertebrae
chpo_term: 卵形胸腰椎体
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0002159
hpo_term: Heparan sulfate excretion in urine
chpo_term: 尿中硫酸乙酰肝素排泄
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000250
hpo_term: Dense calvaria
chpo_term: 颅盖骨密度过高
id: HP:0000943
hpo_term: Dysostosis multiplex
chpo_term: 多发性骨发育不全
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:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0000900
hpo_term: Thickened ribs
chpo_term: 肋骨增厚
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
Disease (OMIM:613215):
CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME
Chromosome 17p13.3 duplication syndrome

Associated phenotypes (HPO):
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
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:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0009765
hpo_term: Low hanging columella
chpo_term: 鼻小柱下垂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0006167
hpo_term: Prominent proximal interphalangeal joints
chpo_term: 膨大的近端指间关节
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:613573):
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Ectodermal dysplasia-syndactyly syndrome 1

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002232
hpo_term: Patchy alopecia
chpo_term: 片形脱发，鬼剃头
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002046
hpo_term: Heat intolerance
chpo_term: 不耐热
id: HP:0002550
hpo_term: Absent facial hair
chpo_term: 面部毛发稀疏
id: HP:0010709
hpo_term: 2-4 finger syndactyly
chpo_term: 第二-四指并指
id: HP:0004692
hpo_term: 4-5 toe syndactyly
chpo_term: 第四、五脚趾并趾
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0010765
hpo_term: Palmar hyperkeratosis
chpo_term: 掌部角化过度
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0005709
hpo_term: 2-3 toe cutaneous syndactyly
chpo_term: 第二、三脚趾皮肤性并趾
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:615102):
Tyshchenko syndrome
TYSHCHENKO SYNDROME

Associated phenotypes (HPO):
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
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:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619738):
Parkinsonism-dystonia 3, childhood-onset
PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
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:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
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:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025403
hpo_term: Stooped posture
chpo_term: 弯腰姿势
id: HP:0002107
hpo_term: Pneumothorax
chpo_term: 气胸
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
Disease (OMIM:300934):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy
Congenital disorder of glycosylation, type Iy

Associated phenotypes (HPO):
id: HP:0003642
hpo_term: Type I transferrin isoform profile
chpo_term: I型转铁蛋白异构体谱
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
Disease (OMIM:611364):
Myoclonic epilepsy, juvenile, susceptibility to, 4
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
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:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618426):
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
Encephalopathy, acute, infection-induced, susceptibility to, 9

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0040213
hpo_term: Hypopnea
chpo_term: 呼吸浅慢
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012510
hpo_term: Extra-axial cerebrospinal fluid accumulation
chpo_term: 轴外脑脊液蓄积
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
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:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:600269):
SHORT TARSUS WITH ABSENCE OF LOWER EYELASHES
Short tarsus with absence of lower eyelashes

Associated phenotypes (HPO):
id: HP:0007697
hpo_term: Hypoplasia of the lower eyelids
chpo_term: 下眼睑发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007646
hpo_term: Absent lower eyelashes
chpo_term: 下睫毛缺失
Disease (OMIM:181510):
Schizophrenia 1
SCHIZOPHRENIA 1

Associated phenotypes (HPO):
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0008738
hpo_term: Partially duplicated kidney
chpo_term: 部分性重复肾
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0100396
hpo_term: Short proximal phalanx of the 4th toe
chpo_term: 第四趾近节趾骨短
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0007086
hpo_term: Social and occupational deterioration
chpo_term: 社交和职业退化
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
Disease (OMIM:612645):
Deafness, autosomal recessive 1B
DEAFNESS, AUTOSOMAL RECESSIVE 1B

Associated phenotypes (HPO):
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:224100):
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
Anemia, dyserythropoietic congenital, type II

Associated phenotypes (HPO):
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:0003352
hpo_term: Endopolyploidy on chromosome studies of bone marrow
chpo_term: 骨髓染色体的核内多倍性检查
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003655
hpo_term: Reduced level of N-acetylglucosaminyltransferase II
chpo_term: N-乙酰氨基葡萄糖转移酶II活性降低