TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:274190):
Thumb agenesis, short stature, and immunodeficiency
THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY

Associated phenotypes (HPO):
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0001574
hpo_term: Abnormality of the integument
chpo_term: 体壁的异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
Disease (OMIM:614493):
WISKOTT-ALDRICH SYNDROME 2
Wiskott-Aldrich syndrome 2

Associated phenotypes (HPO):
id: HP:0012177
hpo_term: Abnormal natural killer cell physiology
chpo_term: 自然杀伤细胞生理功能异常
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0031379
hpo_term: Abnormal T cell proliferation
chpo_term: T细胞异常增殖
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0005415
hpo_term: Decreased proportion of CD8-positive T cells
chpo_term: CD8 + T细胞数目减低
Disease (OMIM:102900):
Adenosine triphosphate, elevated, of erythrocytes
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES

Associated phenotypes (HPO):
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0030271
hpo_term: Reduced erythrocyte 2,3-diphosphoglycerate concentration
chpo_term: 红细胞 2，3-二磷酸甘油酸浓度减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:246650):
Lipase deficiency, combined
LIPASE DEFICIENCY, COMBINED

Associated phenotypes (HPO):
id: HP:0031290
hpo_term: Tuberous xanthoma
chpo_term: 结节性黄瘤
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
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:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
Disease (OMIM:614487):
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
Spastic ataxia 5, autosomal recessive

Associated phenotypes (HPO):
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:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
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:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
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:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0012240
hpo_term: Increased intramyocellular lipid droplets
chpo_term: 肌细胞内脂滴增加
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:259770):
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
Osteoporosis-pseudoglioma syndrome

Associated phenotypes (HPO):
id: HP:0002982
hpo_term: Tibial bowing
chpo_term: 胫骨弯曲
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004565
hpo_term: Severe platyspondyly
chpo_term: 重度扁平椎
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0008037
hpo_term: Absent anterior chamber of the eye
chpo_term: 眼前房缺如
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0007862
hpo_term: Retinal calcification
chpo_term: 视网膜钙化
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
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:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000667
hpo_term: Phthisis bulbi
chpo_term: 眼萎缩
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
id: HP:0007898
hpo_term: Exudative retinopathy
chpo_term: 渗出性视网膜病变
Disease (OMIM:610187):
DIAPHRAGMATIC HERNIA 3
Diaphragmatic hernia 3

Associated phenotypes (HPO):
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
Disease (OMIM:146830):
IMMUNE DEFICIENCY, FAMILIAL VARIABLE
Immune deficiency, familial variable

Associated phenotypes (HPO):
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:620044):
BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME
Bone marrow failure and diabetes mellitus syndrome

Associated phenotypes (HPO):
id: HP:0034063
hpo_term: Anti-islet antigen-2 antibody positivity
chpo_term: 抗胰岛抗原2抗体阳性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0006727
hpo_term: T-cell acute lymphoblastic leukemias
chpo_term: T细胞急性淋巴细胞白血病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0025329
hpo_term: Anti-glutamic acid decarboxylase antibody positivity
chpo_term: 抗谷氨酸脱羧酶抗体阳性
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:617830):
Developmental and epileptic encephalopathy 58
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58

Associated phenotypes (HPO):
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:210370):
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Bietti crystalline corneoretinal dystrophy

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0007880
hpo_term: Marginal corneal dystrophy
chpo_term: 边缘性角膜营养不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0030528
hpo_term: Paracentral scotoma
chpo_term: 旁中央暗点
id: HP:0000531
hpo_term: Corneal crystals
chpo_term: 角膜结晶
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:619835):
3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA
3-methylglutaconic aciduria, type VIIA, autosomal dominant

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0032435
hpo_term: Neonatal omphalitis
chpo_term: 新生儿脐炎
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0004823
hpo_term: Anisopoikilocytosis
chpo_term: 异形红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (OMIM:258320):
OMPHALOCELE-CLEFT PALATE SYNDROME, LETHAL
Omphalocele-Cleft palate syndrome, lethal

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
Disease (OMIM:615969):
ALPHA-FETOPROTEIN DEFICIENCY
Alpha-Fetoprotein deficiency

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0045057
hpo_term: Decreased levels of alpha-fetoprotein
chpo_term: 甲胎蛋白水平下降
Disease (OMIM:604864):
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
Osteoarthritis with mild chondrodysplasia

Associated phenotypes (HPO):
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005086
hpo_term: Knee osteoarthritis
chpo_term: 膝关节骨性关节炎
id: HP:0012313
hpo_term: Heberden's node
chpo_term: Heberden结节
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0030041
hpo_term: Schmorl's node
chpo_term: Schmorl's结节
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
Disease (OMIM:243700):
Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002860
hpo_term: Squamous cell carcinoma
chpo_term: 鳞状细胞癌
id: HP:0030991
hpo_term: Sclerosing cholangitis
chpo_term: 硬化性胆管炎
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0410151
hpo_term: Eosinophilic infiltration of the esophagus
chpo_term: 食道嗜酸性粒细胞浸润
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0031292
hpo_term: Cutaneous abscess
chpo_term: 皮肤脓肿
id: HP:0032185
hpo_term: Disseminated molluscum contagiosum
chpo_term: 播散性传染性软疣
id: HP:0032163
hpo_term: Molluscum contagiosum
chpo_term: 接触传染性软疣
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0100845
hpo_term: Anaphylactic shock
chpo_term: 过敏性休克
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0025419
hpo_term: Pulmonary pneumatocele
chpo_term: 肺气肿
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005425
hpo_term: Recurrent sinopulmonary infections
chpo_term: 反复鼻窦及肺感染
id: HP:0410323
hpo_term: Drug allergy
chpo_term: 药物性过敏
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
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:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0005318
hpo_term: Cerebral vasculitis
chpo_term: 脑血管炎
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
Disease (OMIM:618295):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67
Intellectual developmental disorder, autosomal recessive 67

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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: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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002858
hpo_term: Meningioma
chpo_term: 脑膜瘤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:610805):
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
Congenital anomalies of kidney and urinary tract, susceptibility to

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000074
hpo_term: Ureteropelvic junction obstruction
chpo_term: 肾盂输尿管连接部梗阻
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:170400):
Hypokalemic periodic paralysis, type 1
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1

Associated phenotypes (HPO):
id: HP:0003752
hpo_term: Episodic flaccid weakness
chpo_term: 发作性弛缓无力
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003768
hpo_term: Periodic paralysis
chpo_term: 周期性麻痹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:203330):
Pseudohypoparathyroidism, type II
PSEUDOHYPOPARATHYROIDISM, TYPE II

Associated phenotypes (HPO):
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
Disease (OMIM:139000):
GRANULOSIS RUBRA NASI
Granulosis rubra nasi

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:101400):
Saethre-Chotzen syndrome
SAETHRE-CHOTZEN SYNDROME

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0011323
hpo_term: Cleft of chin
chpo_term: 下颚裂
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0009899
hpo_term: Prominent crus of helix
chpo_term: 耳轮脚突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000263
hpo_term: Oxycephaly
chpo_term: 锥形头
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0010104
hpo_term: Absent first metatarsal
chpo_term: 第一跖骨缺如
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000614
hpo_term: Abnormal nasolacrimal system morphology
chpo_term: 鼻泪管系统的异常
id: HP:0002678
hpo_term: Skull asymmetry
chpo_term: 头骨不对称
id: HP:0009968
hpo_term: Partial duplication of the distal phalanx of the 3rd finger
chpo_term: 第三指末节指骨部分重复
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009951
hpo_term: Partial duplication of the distal phalanx of the 2nd finger
chpo_term: 第二指末节指骨部分重复
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0004425
hpo_term: Flat forehead
chpo_term: 额头扁平
Disease (OMIM:610024):
RETINAL CONE DYSTROPHY 3A
Retinal cone dystrophy 3A

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0008020
hpo_term: Cone dystrophy
chpo_term: 视锥细胞营养不良
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0030473
hpo_term: Abnormal light-adapted flicker electroretinogram
chpo_term: 明适应闪光视网膜电图异常
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:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617993):
Tumoral calcinosis, hyperphosphatemic, familial, 2
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2

Associated phenotypes (HPO):
id: HP:0007618
hpo_term: Subcutaneous calcification
chpo_term: 皮下钙化
id: HP:0012408
hpo_term: Medullary nephrocalcinosis
chpo_term: 肾髓质钙化症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲