TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:141000):
HEMANGIOMA-THROMBOCYTOPENIA SYNDROME
Hemangioma-Thrombocytopenia syndrome

Associated phenotypes (HPO):
id: HP:0001937
hpo_term: Microangiopathic hemolytic anemia
chpo_term: 微血管病性溶血性贫血
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
Disease (OMIM:272300):
SULFOCYSTEINURIA
SULFITE OXIDASE DEFICIENCY, ISOLATED

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
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:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0003643
hpo_term: Sulfite oxidase deficiency
chpo_term: 亚硫酸氧化酶缺乏症
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011942
hpo_term: Increased urinary sulfite
chpo_term: 尿亚硫酸盐增加
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0032350
hpo_term: Sulfocysteinuria
chpo_term: 磺基半胱氨酸尿症
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0003359
hpo_term: Decreased urinary sulfate
chpo_term: 尿硫酸盐减少
Disease (OMIM:176860):
Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0005543
hpo_term: Reduced protein C activity
chpo_term: 蛋白C活性减低
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0002638
hpo_term: Superficial thrombophlebitis
chpo_term: 浅表性血栓性静脉炎
id: HP:0002625
hpo_term: Deep venous thrombosis
chpo_term: 深静脉血栓形成
id: HP:0001038
hpo_term: Warfarin-induced skin necrosis
chpo_term: 华法林诱导性皮肤坏死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0005305
hpo_term: Cerebral venous thrombosis
chpo_term: 脑静脉血栓形成
Disease (OMIM:614514):
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
Thrombophilia due to protein S deficiency, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0002638
hpo_term: Superficial thrombophlebitis
chpo_term: 浅表性血栓性静脉炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004855
hpo_term: Reduced protein S activity
chpo_term: 蛋白S活性减低
id: HP:0005305
hpo_term: Cerebral venous thrombosis
chpo_term: 脑静脉血栓形成
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
Disease (OMIM:276600):
TYROSINEMIA, TYPE II
Tyrosine transaminase deficiency

Associated phenotypes (HPO):
id: HP:0003231
hpo_term: Hypertyrosinemia
chpo_term: 高酪氨酸血症
id: HP:0003161
hpo_term: 4-Hydroxyphenylpyruvic aciduria
chpo_term: 4-羟基苯丙酮酸尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:6000479
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0007812
hpo_term: Herpetiform corneal ulceration
chpo_term: 泡疹角膜溃疡
Disease (OMIM:605419):
Schizophrenia 10
SCHIZOPHRENIA 10

Associated phenotypes (HPO):
id: HP:0005324
hpo_term: Disturbance of facial expression
chpo_term: 面部表情障碍
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
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:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612165):
RETINITIS PIGMENTOSA 29
Retinitis pigmentosa 29

Associated phenotypes (HPO):
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:609223):
Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGER TYPE

Associated phenotypes (HPO):
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0003184
hpo_term: Decreased hip abduction
chpo_term: 髋关节外展减小
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002945
hpo_term: Intervertebral space narrowing
chpo_term: 椎间隙变窄
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
Disease (OMIM:620869):
Immunodeficiency 122

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:0005359
hpo_term: Aplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0410377
hpo_term: Decreased proportion of naive CD8 T cells
chpo_term: 初始CD8 T 细胞比例减低
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0410243
hpo_term: Abnormal circulating IgM level
chpo_term: 血液IgM异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0031430
hpo_term: Oligoclonal T cell expansion
chpo_term: 寡克隆T细胞扩增
id: HP:0032126
hpo_term: Decreased proportion of unswitched memory B cells
chpo_term: 未类型转换记忆 B 细胞比例减低
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
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: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:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
Disease (OMIM:600561):
Spondyloepiphyseal dysplasia with atlantoaxial instability
SPONDYLOEPIPHYSEAL DYSPLASIA WITH ATLANTOAXIAL INSTABILITY

Associated phenotypes (HPO):
id: HP:0005667
hpo_term: Os odontoideum
chpo_term: 游离齿状突(齿状突小骨)
id: HP:0003467
hpo_term: Atlantoaxial instability
chpo_term: 寰枢椎不稳
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0009130
hpo_term: Hand muscle atrophy
chpo_term: 手部肌肉萎缩
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0008489
hpo_term: Spondylolisthesis at L5-S1
chpo_term: L5-S1腰椎滑脱
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0003304
hpo_term: Spondylolysis
chpo_term: 峡部裂
id: HP:0003414
hpo_term: Atlantoaxial dislocation
chpo_term: 寰枢椎脱位
Disease (OMIM:614299):
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
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:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
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:0008972
hpo_term: Decreased activity of mitochondrial respiratory chain
chpo_term: 线粒体呼吸链活性降低
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0008314
hpo_term: Decreased activity of mitochondrial complex II
chpo_term: 线粒体复合物II活性降低
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
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:0011924
hpo_term: Decreased activity of mitochondrial complex III
chpo_term: 线粒体复合物III活性降低
id: HP:0002154
hpo_term: Hyperglycinemia
chpo_term: 高甘氨酸血症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:6000829
id: HP:0500230
hpo_term: Increased CSF glycine concentration
chpo_term: 脑脊液甘氨酸浓度升高
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:617948):
Elliptocytosis-3
ELLIPTOCYTOSIS 3

Associated phenotypes (HPO):
id: HP:0004445
hpo_term: Elliptocytosis
chpo_term: 椭圆形红细胞增多症
id: HP:0025066
hpo_term: Decreased mean corpuscular volume
chpo_term: 红细胞平均体积减低
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0004870
hpo_term: Chronic hemolytic anemia
chpo_term: 慢性溶血性贫血
id: HP:0004839
hpo_term: Pyropoikilocytosis
chpo_term: 热异形红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619971):
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
Neurodevelopmental disorder with epilepsy and brain atrophy

Associated phenotypes (HPO):
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
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:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0025357
hpo_term: Erratic myoclonus
chpo_term: 不规则肌阵挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:617784):
FANCONI ANEMIA, COMPLEMENTATION GROUP W
Fanconi anemia, complementation group W

Associated phenotypes (HPO):
id: HP:0410049
hpo_term: Abnormal radial ray morphology
chpo_term: 桡骨线形态异常
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:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0031689
hpo_term: Megakaryocyte dysplasia
chpo_term: 巨核细胞发育不良
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
Disease (OMIM:606851):
CREE MENTAL RETARDATION SYNDROME
Cree mental retardation syndrome

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006712
hpo_term: Aplasia/Hypoplasia of the ribs
chpo_term: 肋骨发育不良/发育不全
Disease (OMIM:174050):
Polycystic liver disease 1 with or without kidney cysts
POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS

Associated phenotypes (HPO):
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006557
hpo_term: Polycystic liver disease
chpo_term: 多囊性肝病
Disease (OMIM:615193):
Bleeding disorder, platelet-type, 15
BLEEDING DISORDER, PLATELET-TYPE, 15

Associated phenotypes (HPO):
id: HP:0011877
hpo_term: Increased mean platelet volume
chpo_term: 平均血小板体积增大
id: HP:0031126
hpo_term: Impaired clot retraction
chpo_term: 血凝块回缩受损
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004866
hpo_term: Impaired ADP-induced platelet aggregation
chpo_term: ADP诱导的血小板聚集障碍
id: HP:0032438
hpo_term: Platelet anisocytosis
chpo_term: 血小板大小异常不均
Disease (OMIM:251240):
Microcephaly with chemotactic defect and transient hypogammaglobulinemia
MICROCEPHALY WITH CHEMOTACTIC DEFECT AND TRANSIENT HYPOGAMMAGLOBULINEMIA

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0005432
hpo_term: Transient hypogammaglobulinemia of infancy
chpo_term: 婴儿期一过性低丙球蛋白血症
id: HP:0003065
hpo_term: Patellar hypoplasia
chpo_term: 髌骨发育不全
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:107900):
Arms, malformation of
ARMS, MALFORMATION OF

Associated phenotypes (HPO):
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
Disease (OMIM:611493):
ATRIAL FIBRILLATION, FAMILIAL, 4
Atrial fibrillation, familial, 4

Associated phenotypes (HPO):
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0006699
hpo_term: Premature atrial contractions
chpo_term: 房性早搏
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601680):
ARTHROGRYPOSIS, DISTAL, TYPE 2B1
Arthrogryposis, distal, type 2B

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0006109
hpo_term: Absent phalangeal crease
chpo_term: 指节间皮肤折痕缺如
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0001193
hpo_term: Ulnar deviation of the hand or of fingers of the hand
chpo_term: 手或手指尺侧偏斜
id: HP:0005272
hpo_term: Prominent nasolabial fold
chpo_term: 鼻唇沟突出
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
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
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌