TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:613179):
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
Immunodeficiency due to purine nucleoside phosphorylase deficiency

Associated phenotypes (HPO):
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0011935
hpo_term: Decreased urinary urate
chpo_term: 尿液中尿酸盐减少
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0005372
hpo_term: Abnormality of B cell physiology
chpo_term: B细胞生理异常
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0005390
hpo_term: Recurrent opportunistic infections
chpo_term: 反复机会性感染
id: HP:0012410
hpo_term: Pure red cell aplasia
chpo_term: 纯红细胞再生障碍性贫血
id: HP:0001904
hpo_term: Neutropenia in presence of anti-neutropil antibodies
chpo_term: 抗中性粒细胞抗体阳性的中性粒细胞减少症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002732
hpo_term: Lymph node hypoplasia
chpo_term: 淋巴结发育不全
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0033339
hpo_term: Increased circulating inosine concentration
chpo_term: 循环肌苷浓度增加
id: HP:0040422
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0040424
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:0033340
hpo_term: Increased circulating guanosine concentration
chpo_term: 循环鸟苷浓度增加
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:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001973
hpo_term: Autoimmune thrombocytopenia
chpo_term: 自身免疫性血小板减少症
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0005318
hpo_term: Cerebral vasculitis
chpo_term: 脑血管炎
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
Disease (OMIM:614616):
Diarrhea 6
DIARRHEA 6

Associated phenotypes (HPO):
id: HP:0100502
hpo_term: Vitamin B12 deficiency
chpo_term: 维生素B12缺乏症
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000319
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:615508):
ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0100792
hpo_term: Acantholysis
chpo_term: 皮肤棘层松解
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0034323
hpo_term: Reduced circulating growth hormone concentration
chpo_term: 循环生长激素水平降低
id: HP:0011625
hpo_term: Multiple muscular ventricular septal defects
chpo_term: 多发肌部型室间隔缺损
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
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:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
Disease (OMIM:133780):
EXUDATIVE VITREORETINOPATHY 1
Exudative vitreoretinopathy 1

Associated phenotypes (HPO):
id: HP:0007902
hpo_term: Vitreous hemorrhage
chpo_term: 玻璃体出血
id: HP:0030666
hpo_term: Retinal neovascularization
chpo_term: 视网膜新生血管形成
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001493
hpo_term: Falciform retinal fold
chpo_term: 镰状视网膜皱襞
id: HP:0100832
hpo_term: Vitreous floaters
chpo_term: 玻璃体漂浮物
id: HP:0011530
hpo_term: Retinal hole
chpo_term: 视网膜裂孔
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007685
hpo_term: Peripheral retinal avascularization
chpo_term: 周边视网膜血管缺失
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0025007
hpo_term: Ectopic fovea
chpo_term: 视网膜中央凹异位
id: HP:0001489
hpo_term: Posterior vitreous detachment
chpo_term: 玻璃体后部脱离
id: HP:0030490
hpo_term: Exudative vitreoretinopathy
chpo_term: 渗出性玻璃体视网膜病变
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001147
hpo_term: Retinal exudate
chpo_term: 视网膜渗出
id: HP:0000523
hpo_term: Subcapsular cataract
chpo_term: 囊膜下白内障
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:164800):
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 5
Nail disorder, nonsyndromic congenital, 5

Associated phenotypes (HPO):
id: HP:0008400
hpo_term: Onycholysis of distal fingernails
chpo_term: 指甲末端甲分离
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613192):
Intellectual developmental disorder, autosomal recessive 13
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0007068
hpo_term: Inferior cerebellar vermis hypoplasia
chpo_term: 下小脑蚓发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
Disease (OMIM:620558):
CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
Craniometadiaphyseal osteosclerosis with hip dysplasia

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0004618
hpo_term: Sandwich appearance of vertebral bodies
chpo_term: 三明治样椎体
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
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:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:5200001
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012731
hpo_term: Ectopic anterior pituitary gland
chpo_term: 异位垂体前叶腺
id: HP:0012541
hpo_term: Cephalohematoma
chpo_term: 胎头血肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
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
Disease (OMIM:600850):
Schizophrenia 4
SCHIZOPHRENIA 4

Associated phenotypes (HPO):
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601596):
Charcot-Marie-Tooth disease, type 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004466
hpo_term: Prolonged brainstem auditory evoked potentials
chpo_term: 脑干听觉诱发电位延长
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
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:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
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:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0007107
hpo_term: Segmental peripheral demyelination
chpo_term: 节段性周围性脱髓鞘
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0003400
hpo_term: Basal lamina onion bulb formation
chpo_term: 基底层“洋葱头样”改变
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003387
hpo_term: Decreased number of large peripheral myelinated nerve fibers
chpo_term: 大的周围有髓鞘神经纤维数量减少
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0034347
hpo_term: Greater auricular nerve thickening
chpo_term: 耳大神经增厚
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000764
hpo_term: Peripheral axonal degeneration
chpo_term: 外围神经轴索变性
Disease (OMIM:301013):
MENTAL RETARDATION, X-LINKED 107
Mental retardation, X-linked 107

Associated phenotypes (HPO):
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
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:0011822
hpo_term: Broad chin
chpo_term: 宽下巴
id: HP:0011245
hpo_term: Abnormality of superior crus of antihelix
chpo_term: 对耳轮上脚异常
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
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:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
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:0009899
hpo_term: Prominent crus of helix
chpo_term: 耳轮脚突出
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:607859):
ANGIOMA, TUFTED
Angioma, tufted

Associated phenotypes (HPO):
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0011276
hpo_term: Vascular skin abnormality
chpo_term: 皮肤血管异常
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0012329
hpo_term: Tufted angioma
chpo_term: 丛状血管病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607681):
Febrile seizures, familial, 8
FEBRILE SEIZURES, FAMILIAL, 8

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0010849
hpo_term: EEG with spike-wave complexes (>3.5 Hz)
chpo_term: 大于3.5赫兹棘慢复合波脑电图
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:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
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:616954):
You-Hoover-Fong syndrome
YOU-HOOVER-FONG SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
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:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001583
hpo_term: Rotary nystagmus
chpo_term: 旋转眼球震颤
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0010775
hpo_term: Vascular ring
chpo_term: 血管环
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0011590
hpo_term: Double aortic arch
chpo_term: 双主动脉弓
id: HP:0000749
hpo_term: Paroxysmal bursts of laughter
chpo_term: 阵发性大笑
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:122100):
Meesmann corneal dystrophy 1
CORNEAL DYSTROPHY, MEESMANN, 1

Associated phenotypes (HPO):
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007856
hpo_term: Punctate opacification of the cornea
chpo_term: 角膜的点状混浊
Disease (OMIM:615285):
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
Neutropenia, severe congenital, 5, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
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:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001978
hpo_term: Extramedullary hematopoiesis
chpo_term: 髓外造血
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:613838):
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
Cardiomyopathy, familial hypertrophic, 16

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001670
hpo_term: Asymmetric septal hypertrophy
chpo_term: 非对称性心室间隔肥厚
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011713
hpo_term: Left bundle branch block
chpo_term: 左束支传导阻滞
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0012764
hpo_term: Orthopnea
chpo_term: 端坐式呼吸
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
Disease (OMIM:215700):
Citrullinemia, classic
CITRULLINEMIA, CLASSIC

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6000353
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
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:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002038
hpo_term: Protein avoidance
chpo_term: 蛋白质回避
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:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001951
hpo_term: Episodic ammonia intoxication
chpo_term: 阵发性氨中毒
id: HP:0003217
hpo_term: Hyperglutaminemia
chpo_term: 高谷氨酰胺血症
id: HP:0003218
hpo_term: Oroticaciduria
chpo_term: 乳清酸尿症
id: HP:0001950
hpo_term: Respiratory alkalosis
chpo_term: 呼吸性碱中毒
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:242880):
IMMUNOERYTHROMYELOID HYPOPLASIA
Immunoerythromyeloid hypoplasia

Associated phenotypes (HPO):
id: HP:0008161
hpo_term: Absent leukocyte alkaline phosphatase
chpo_term: 白细胞碱性磷酸酶缺失
id: HP:0005523
hpo_term: Lymphoproliferative disorder
chpo_term: 淋巴增生性疾病
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低