TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:970):
Hereditary sensory and autonomic neuropathy type 2
HSAN2
Autosomal recessive sensory radicular neuropathy
Neurogenic acroosteolysis
Hereditary sensory and autonomic neuropathy type II

Associated phenotypes (HPO):
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0001842
hpo_term: Foot acroosteolysis
chpo_term: 足趾端溶骨
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002797
hpo_term: Osteolysis
chpo_term: 骨质溶解
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
Disease (ORPHA:972):
Hereditary continuous muscle fiber activity

Associated phenotypes (HPO):
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:971):
Acrorenal syndrome

Associated phenotypes (HPO):
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0012210
hpo_term: Abnormal renal morphology
chpo_term: 肾形态异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
Disease (ORPHA:86843):
Acute panmyelosis with myelofibrosis
Acute myelofibrosis
Acute myelodysplasia with myelofibrosis

Associated phenotypes (HPO):
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0012129
hpo_term: Abnormality of bone marrow stromal cells
chpo_term: 骨髓基质细胞异常
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0003419
hpo_term: Low back pain
chpo_term: 下背部疼痛
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0004820
hpo_term: Acute myelomonocytic leukemia
chpo_term: 急性粒单核细胞白血病
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0031385
hpo_term: Megakaryocyte nucleus hypolobulation
chpo_term: 巨核细胞核分叶过少
id: HP:0031386
hpo_term: Increased micromegakaryocyte count
chpo_term: 小巨核细胞计数增多
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (ORPHA:86841):
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
5q- syndrome

Associated phenotypes (HPO):
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0031020
hpo_term: Bone marrow hypercellularity
chpo_term: 骨髓细胞过多
id: HP:0031385
hpo_term: Megakaryocyte nucleus hypolobulation
chpo_term: 巨核细胞核分叶过少
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0011992
hpo_term: Abnormality of neutrophil morphology
chpo_term: 中性粒细胞形态异常
id: HP:0012129
hpo_term: Abnormality of bone marrow stromal cells
chpo_term: 骨髓基质细胞异常
id: HP:0012148
hpo_term: Multiple lineage myelodysplasia
chpo_term: 多系骨髓增生异常
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
Disease (ORPHA:3129):
Sarcosine dehydrogenase complex deficiency
Sarcosinemia

Associated phenotypes (HPO):
id: HP:0010896
hpo_term: Hypersarcosinemia
chpo_term: 高肌氨酸血症
id: HP:0010897
hpo_term: Hypersarcosinuria
chpo_term: 高肌氨酸尿症
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0007875
hpo_term: Congenital blindness
chpo_term: 先天性失明
id: HP:0008610
hpo_term: Infantile sensorineural hearing impairment
chpo_term: 婴幼儿感音神经性听力损失
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0011727
hpo_term: Peroneal muscle weakness
chpo_term: 腓骨肌无力
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:98826):
Refractory anemia
Myelodysplastic neoplasm with low blasts
MDS-LB

Associated phenotypes (HPO):
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0012150
hpo_term: Single lineage myelodysplasia
chpo_term: 单系骨髓增生异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0030872
hpo_term: Abnormal cardiac ventricular function
chpo_term: 心室功能异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
Disease (ORPHA:98827):
Unclassified myelodysplastic syndrome

Associated phenotypes (HPO):
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0012148
hpo_term: Multiple lineage myelodysplasia
chpo_term: 多系骨髓增生异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
Disease (ORPHA:3121):
Ruvalcaba syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000649
hpo_term: Abnormality of visual evoked potentials
chpo_term: 视觉诱发电位异常
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0009623
hpo_term: Proximal placement of thumb
chpo_term: 拇指近置
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010579
hpo_term: Cone-shaped epiphysis
chpo_term: 锥形骨骺
id: HP:0100542
hpo_term: Abnormal localization of kidney
chpo_term: 肾脏位置异常
id: HP:0100734
hpo_term: Abnormality of vertebral epiphysis morphology
chpo_term: 椎体骨骺形态异常
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:969):
Acromicric dysplasia

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005900
hpo_term: Fifth metacarpal with ulnar notch
chpo_term: 第五掌骨尺骨切迹
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:968):
Acromesomelic dwarfism
Acromesomelic dysplasia, Hunter-Thompson type

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0006011
hpo_term: Cuboidal metacarpal
chpo_term: 骰子形掌骨
id: HP:0006014
hpo_term: Abnormally shaped carpal bones
chpo_term: 腕骨形状异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0008890
hpo_term: Severe short-limb dwarfism
chpo_term: 严重的短肢侏儒症
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:3124):
Saccharopine dehydrogenase deficiency
Saccharopinuria
Hyperlysinemia type II

Associated phenotypes (HPO):
id: HP:0002161
hpo_term: Hyperlysinemia
chpo_term: 高赖氨酸血症
id: HP:0011021
hpo_term: Abnormality of circulating enzyme level
chpo_term: 循环系统内酶浓度水平异常
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0003297
hpo_term: Hyperlysinuria
chpo_term: 高赖氨酸尿症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001264
hpo_term: Spastic diplegia
chpo_term: 痉挛性双侧瘫痪
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0032397
hpo_term: Citrullinuria
chpo_term: 瓜氨酸尿症
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0500151
hpo_term: Hypercystinemia
chpo_term: 高胱氨酸血症
Disease (ORPHA:98820):
Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci

Associated phenotypes (HPO):
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002427
hpo_term: Expressive aphasia
chpo_term: 运动性失语
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0010841
hpo_term: Multifocal epileptiform discharges
chpo_term: 多灶性痫样放电
id: HP:0012005
hpo_term: Deja vu aura
chpo_term: 似曾相识的感觉
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0032046
hpo_term: Focal cortical dysplasia
chpo_term: 局灶性皮质发育不良
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0011171
hpo_term: Simple febrile seizure
chpo_term: 单纯型热性惊厥
Disease (ORPHA:166063):
PCH4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia
Pontocerebellar hypoplasia type 4

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0006955
hpo_term: Olivopontocerebellar hypoplasia
chpo_term: 橄榄桥脑小脑发育不全
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:563612):
Isolated exencephaly

Associated phenotypes (HPO):
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002683
hpo_term: Abnormal calvaria morphology
chpo_term: 颅骨形态异常
id: HP:0005466
hpo_term: Hypoplasia of the frontal bone
chpo_term: 额骨发育不全
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0011756
hpo_term: Posterior pituitary agenesis
chpo_term: 垂体后叶缺失
id: HP:0011821
hpo_term: Abnormal facial skeleton morphology
chpo_term: 面部骨骼形态异常
id: HP:0030244
hpo_term: Maternal fever in pregnancy
chpo_term: 妊娠期间孕妇发热
Disease (ORPHA:86839):
MDS with excess blasts
Myelodysplastic neoplasm with increased blasts
RAEB
MDS-IB
Refractory anemia with excess blasts

Associated phenotypes (HPO):
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001017
hpo_term: Anemic pallor
chpo_term: 贫血性白斑
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0004808
hpo_term: Acute myeloid leukemia
chpo_term: 急性髓性白血病
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0010876
hpo_term: Abnormal circulating protein concentration
chpo_term: 血液蛋白水平异常
id: HP:0012116
hpo_term: Abnormal circulating albumin concentration
chpo_term: 血清白蛋白水平异常
id: HP:0012136
hpo_term: Dysplastic granulopoesis
chpo_term: 粒细胞生成异常
id: HP:0012148
hpo_term: Multiple lineage myelodysplasia
chpo_term: 多系骨髓增生异常
id: HP:0012150
hpo_term: Single lineage myelodysplasia
chpo_term: 单系骨髓增生异常
id: HP:0025065
hpo_term: Abnormal mean corpuscular volume
chpo_term: 红细胞体积异常
id: HP:0031035
hpo_term: Chronic infection
chpo_term: 慢性感染
Disease (ORPHA:959):
Acro-renal-ocular syndrome

Associated phenotypes (HPO):
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001172
hpo_term: Abnormal thumb morphology
chpo_term: 拇指形态异常
id: HP:0002818
hpo_term: Abnormal morphology of the radius
chpo_term: 桡骨形态异常
id: HP:0004712
hpo_term: Renal malrotation
chpo_term: 肾旋转不良
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0009650
hpo_term: Short distal phalanx of the thumb
chpo_term: 拇指远节指骨缩短
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000588
hpo_term: Optic disc coloboma
chpo_term: 视盘缺损
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0004059
hpo_term: Radial club hand
chpo_term: 桡偏畸形手
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010109
hpo_term: Short hallux
chpo_term: 短拇趾
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓