TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:311070):
Charcot-Marie-Tooth disease, X-linked recessive, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003481
hpo_term: Segmental peripheral demyelination/remyelination
chpo_term: 节段性神经末梢脱髓鞘/髓鞘再生
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0032460
hpo_term: Decreased phosphoribosylpyrophosphate synthetase level
chpo_term: 磷酸核糖焦磷酸合成酶水平降低
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
Disease (OMIM:617184):
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
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:0009141
hpo_term: Depletion of mitochondrial DNA in muscle tissue
chpo_term: 肌肉组织中线粒体DNA消耗
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0008347
hpo_term: Decreased activity of mitochondrial complex IV
chpo_term: 线粒体复合物IV活性降低
id: HP:0002747
hpo_term: Respiratory insufficiency due to muscle weakness
chpo_term: 肌肉无力导致的呼吸功能不全
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:620728):
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C
Ullrich congenital muscular dystrophy 1C

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0020152
hpo_term: Distal joint laxity
chpo_term: 远端关节松弛
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0034677
id: HP:0034671
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:187900):
Bleeding disorder, platelet-type, 17
BLEEDING DISORDER, PLATELET-TYPE, 17

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0031364
hpo_term: Ecchymosis
chpo_term: 瘀斑
id: HP:0012526
hpo_term: Absence of alpha granules
chpo_term: α颗粒缺失
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
id: HP:0031965
hpo_term: Increased RBC distribution width
chpo_term: 红细胞分布宽度增加
id: HP:0011890
hpo_term: Prolonged bleeding following procedure
chpo_term: 术后出血时间延长
id: HP:0008320
hpo_term: Impaired collagen-induced platelet aggregation
chpo_term: 胶原诱导的血小板凝集障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0008148
hpo_term: Impaired epinephrine-induced platelet aggregation
chpo_term: 肾上腺素诱导的血小板聚集障碍
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
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:0003337
hpo_term: Reduced prothrombin consumption
chpo_term: 凝血酶原消耗减少
Disease (OMIM:226810):
Celiac disease, epilepsy and cerebral calcification syndrome
EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS

Associated phenotypes (HPO):
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
Disease (OMIM:619817):
Epidermolysis bullosa, junctional 6, with pyloric atresia
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004399
hpo_term: Congenital pyloric atresia
chpo_term: 先天性幽门闭锁
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0007385
hpo_term: Aplasia cutis congenita of scalp
chpo_term: 先天性头皮表皮发育不全
id: HP:0010450
hpo_term: Esophageal stenosis
chpo_term: 食管狭窄
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007589
hpo_term: Aplasia cutis congenita on trunk or limbs
chpo_term: 先天性躯干或四肢表皮发育不全
id: HP:0007589
hpo_term: Aplasia cutis congenita on trunk or limbs
chpo_term: 先天性躯干或四肢表皮发育不全
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
id: HP:0020117
hpo_term: Hypoplastic dermoepidermal hemidesmosomes
chpo_term: 真皮表皮交界处半小体发育不良
Disease (OMIM:619988):
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 77
Intellectual developmental disorder, autosomal recessive 77

Associated phenotypes (HPO):
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0012169
hpo_term: Self-biting
chpo_term: 自咬
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:608885):
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
Stomatin-deficient cryohydrocytosis with neurologic defects

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0004446
hpo_term: Stomatocytosis
chpo_term: 口形红细胞增多症
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0011972
hpo_term: Hypoglycorrhachia
chpo_term: 脑脊液糖减低
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0032660
hpo_term: Convulsive status epilepticus
chpo_term: 惊厥性癫痫持续状态
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619750):
IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
Immunodeficiency 94 with autoinflammation and dysmorphic facies

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0033332
hpo_term: Elevated circulating amyloid A
chpo_term: 循环淀粉样蛋白A升高
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0010614
hpo_term: Fibroma
chpo_term: 纤维瘤
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (DECIPHER:16):
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)

Associated phenotypes (HPO):
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:185050):
STORAGE POOL PLATELET DISEASE
Storage pool platelet disease

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0005537
hpo_term: Decreased mean platelet volume
chpo_term: 平均血小板体积减小
Disease (OMIM:619036):
Myopathy, epilepsy, and progressive cerebral atrophy
MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY

Associated phenotypes (HPO):
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003554
hpo_term: Type 2 muscle fiber atrophy
chpo_term: 2型肌纤维萎缩
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0010602
hpo_term: Type 2 muscle fiber predominance
chpo_term: 2型肌纤维占优势
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0003403
hpo_term: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
chpo_term: EMG：复合肌肉动作电位对重复神经刺激的反应递减
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0011807
hpo_term: Type 1 muscle fiber atrophy
chpo_term: 1型肌纤维萎缩
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0010516
hpo_term: Thymus hyperplasia
chpo_term: 胸腺增生
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:607208):
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
DRAVET SYNDROME

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
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:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
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:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0020216
hpo_term: Visually-induced seizure
chpo_term: 视觉诱发性癫痫发作
Disease (OMIM:272460):
Spondylocarpotarsal synostosis syndrome
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME

Associated phenotypes (HPO):
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0001377
hpo_term: Limited elbow extension
chpo_term: 伸肘受限
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006352
hpo_term: Failure of eruption of permanent teeth
chpo_term: 恒牙萌出失败
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0008456
hpo_term: C2-C3 subluxation
chpo_term: C2-C3椎体半脱位
id: HP:0003305
hpo_term: Block vertebrae
chpo_term: 脊椎分节不全
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0003865
hpo_term: Bowed humerus
chpo_term: 肱骨弯曲
id: HP:0002677
hpo_term: Small foramen magnum
chpo_term: 枕大孔狭窄
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:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001241
hpo_term: Capitate-hamate fusion
chpo_term: 头状骨-钩骨融合
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002691
hpo_term: Platybasia
chpo_term: 颅底扁平症
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
Disease (OMIM:618328):
Epileptic encephalopathy, early infantile, 71
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0012196
hpo_term: Cheyne-Stokes respiration
chpo_term: 潮式呼吸
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:616311):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
Intellectual developmental disorder, autosomal dominant 33

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
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: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:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0200065
hpo_term: Chorioretinal degeneration
chpo_term: 脉络膜视网膜变性
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:188560):
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
Thyroid hormone plasma membrane transport defect

Associated phenotypes (HPO):
id: HP:0008247
hpo_term: Euthyroid hyperthyroxinemia
chpo_term: 甲状腺功能正常的高甲状腺素血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
Disease (OMIM:604715):
ORTHOSTATIC INTOLERANCE
Orthostatic intolerance

Associated phenotypes (HPO):
id: HP:0003345
hpo_term: Elevated urinary norepinephrine
chpo_term: 尿去甲肾上腺素浓度增高
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0012173
hpo_term: Orthostatic tachycardia
chpo_term: 体位性心动过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:145260):
PSEUDOHYPOALDOSTERONISM, TYPE IIA
Pseudohypoaldosteronism, type II

Associated phenotypes (HPO):
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0008242
hpo_term: Pseudohypoaldosteronism
chpo_term: 假性醛固酮减少症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001995
hpo_term: Hyperchloremic acidosis
chpo_term: 高氯性酸中毒
id: HP:0007215
hpo_term: Periodic hyperkalemic paralysis
chpo_term: 高钾性周期性麻痹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617769):
Spinocerebellar ataxia 45
SPINOCEREBELLAR ATAXIA 45

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0010545
hpo_term: Downbeat nystagmus
chpo_term: 下击型眼球震颤
Disease (OMIM:608649):
ICHTHYOSIS PREMATURITY SYNDROME
Ichthyosis prematurity syndrome

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0012768
hpo_term: Neonatal asphyxia
chpo_term: 新生儿窒息
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0011971
hpo_term: Dermatographic urticaria
chpo_term: 皮肤划痕症
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0025724
hpo_term: Caseous vernix-like desquamation
chpo_term: 酪脂样脱屑
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0007503
hpo_term: Generalized ichthyosis
chpo_term: 泛发性鱼鳞病
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产