TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:98818):
LKS
Landau-Kleffner syndrome
Acquired epileptic aphasia

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0030391
hpo_term: Spoken word recognition deficit
chpo_term: 口语词汇识别能力降低
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
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:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007086
hpo_term: Social and occupational deterioration
chpo_term: 社交和职业退化
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0012015
hpo_term: EEG with frontal focal spikes
chpo_term: 脑电图，伴额部局灶棘波
id: HP:0012018
hpo_term: EEG with temporal focal spikes
chpo_term: 脑电图，伴颞区局灶棘波
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0011166
hpo_term: Focal myoclonic seizure
chpo_term: 局灶性肌阵挛发作
id: HP:0011169
hpo_term: Generalized clonic seizure
chpo_term: 全面性阵挛性发作
id: HP:0031951
hpo_term: Nocturnal seizures
chpo_term: 夜间癫痫发作
id: HP:0032671
hpo_term: Non-convulsive status epilepticus without coma
chpo_term: 不伴意识障碍的非惊厥性癫痫持续状态
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
Disease (ORPHA:98811):
Dystonia 18
PED
Paroxysmal exertion-induced dyskinesia
DYT18

Associated phenotypes (HPO):
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0007166
hpo_term: Paroxysmal dyskinesia
chpo_term: 发作性运动障碍
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:0001304
hpo_term: Torsion dystonia
chpo_term: 扭转性肌张力障碍
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
Disease (ORPHA:3111):
Hyperbilirubinemia, Rotor type
Rotor syndrome

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0012379
hpo_term: Abnormal enzyme/coenzyme activity
chpo_term: 酶/辅酶活性异常
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0010473
hpo_term: Porphyrinuria
chpo_term: 卟啉尿症
id: HP:0031811
hpo_term: Bilirubinuria
chpo_term: 胆红素尿
id: HP:0001046
hpo_term: Intermittent jaundice
chpo_term: 间歇性黄疸
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0031137
hpo_term: Storage in hepatocytes
chpo_term: 肝细胞储积
Disease (ORPHA:958):
Acro-renal-mandibular syndrome
Split hand/split foot-mandibular hypoplasia syndrome

Associated phenotypes (HPO):
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
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:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000882
hpo_term: Hypoplastic scapulae
chpo_term: 肩胛骨发育不全
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
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:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006381
hpo_term: Rudimentary fibula
chpo_term: 腓骨发育不良
id: HP:0006426
hpo_term: Rudimentary to absent tibiae
chpo_term: 胫骨发育不良以至缺如
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010295
hpo_term: Aplasia/Hypoplasia of the tongue
chpo_term: 舌未发育/舌发育不全
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
Disease (ORPHA:98813):
EDA-ID
Hypohidrotic ectodermal dysplasia with immunodeficiency
HED-ID
Anhidrotic ectodermal dysplasia with immunodeficiency

Associated phenotypes (HPO):
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010701
hpo_term: Abnormal immunoglobulin level
chpo_term: 免疫球蛋白水平异常
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0005404
hpo_term: Increased B cell count
chpo_term: B细胞数量增多
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0033581
hpo_term: Absent peripheral lymph nodes in presence of infection
chpo_term: 感染时周围淋巴结缺失
id: HP:0100828
hpo_term: Increased T cell count
chpo_term: T细胞数目增多
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0020101
hpo_term: Invasive fungal infection
chpo_term: 侵袭性真菌感染
id: HP:0031188
hpo_term: Genital edema
chpo_term: 生殖器水肿
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
Disease (ORPHA:957):
F syndrome
Acropectorovertebral dysplasia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:952):
Weyers acrofacial dysostosis
Weyers acrodental dysostosis
Acrofacial dysostosis, Weyers type
Curry-Hall syndrome

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0100797
hpo_term: Toenail dysplasia
chpo_term: 趾甲发育不良
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:3115):
Hereditary areflexic dystasia, Roussy-Lévy type
Roussy-Lévy syndrome

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002495
hpo_term: Impaired vibratory sensation
chpo_term: 振动觉异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0007131
hpo_term: Acute demyelinating polyneuropathy
chpo_term: 急性脱髓鞘性多发性神经病
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
Disease (ORPHA:563609):
Isolated anencephaly

Associated phenotypes (HPO):
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0010516
hpo_term: Thymus hyperplasia
chpo_term: 胸腺增生
id: HP:0030244
hpo_term: Maternal fever in pregnancy
chpo_term: 妊娠期间孕妇发热
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
Disease (ORPHA:98810):
Paroxysmal non-kinesigenic dyskinesia
Paroxystic non-kinesigenic choreoathetosis

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0007166
hpo_term: Paroxysmal dyskinesia
chpo_term: 发作性运动障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0003324
hpo_term: Generalized muscle weakness
chpo_term: 泛发性肌无力
id: HP:0025401
hpo_term: Staring gaze
chpo_term: 凝视
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
Disease (ORPHA:93126):
Pauci-immune glomerulonephritis

Associated phenotypes (HPO):
id: HP:0000099
hpo_term: Glomerulonephritis
chpo_term: 肾小球肾炎
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0011944
hpo_term: Small vessel vasculitis
chpo_term: 小血管炎
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0032230
hpo_term: Cytoplasmic antineutrophil antibody positivity
chpo_term: 细胞质抗中性粒细胞抗体阳性
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0008653
hpo_term: Crescentic glomerulonephritis
chpo_term: 新月体肾小球肾炎
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002087
hpo_term: Abnormality of the upper respiratory tract
chpo_term: 上呼吸道异常
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0004930
hpo_term: Abnormality of the pulmonary vasculature
chpo_term: 肺血管异常
id: HP:0012089
hpo_term: Arteritis
chpo_term: 动脉炎
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0012593
hpo_term: Nephrotic range proteinuria
chpo_term: 肾性蛋白尿排泄增高
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0032018
hpo_term: Multiple mononeuropathy
chpo_term: 多发性单神经病变
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0002955
hpo_term: Granulomatosis
chpo_term: 肉芽肿病
id: HP:0032616
hpo_term: Renal interstitial immunoglobulin deposits
chpo_term: 肾间质免疫球蛋白沉积
Disease (ORPHA:98892):
Periventricular nodular heterotopia
PVNH

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003834
hpo_term: Shoulder dislocation
chpo_term: 肩关节脱位
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
Disease (ORPHA:89938):
Bartter syndrome type IV
Bartter syndrome type 4
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss

Associated phenotypes (HPO):
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0000841
hpo_term: Hyperactive renin-angiotensin system
chpo_term: 肾素-血管紧张素系统亢进
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0001960
hpo_term: Hypokalemic metabolic alkalosis
chpo_term: 低钾性代谢性碱中毒
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0004727
hpo_term: Impaired renal concentrating ability
chpo_term: 肾浓缩功能障碍
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003081
hpo_term: Increased urinary potassium
chpo_term: 尿钾增加
id: HP:0003113
hpo_term: Hypochloremia
chpo_term: 低氯血症
id: HP:0003527
hpo_term: Hyperprostaglandinuria
chpo_term: 高前列腺素尿症
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0025335
hpo_term: Delayed ability to stand
chpo_term: 站立能力延迟
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0040288
hpo_term: Nasogastric tube feeding
chpo_term: 鼻胃管灌食
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
Disease (ORPHA:98890):
Early-onset X-linked optic atrophy
Non-Leber type optic atrophy with early-onset
Optic atrophy type 2
OPA2

Associated phenotypes (HPO):
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0012164
hpo_term: Asterixis
chpo_term: 扑翼样震颤
id: HP:0012638
hpo_term: Abnormal nervous system physiology
chpo_term: 神经系统生理功能异常
Disease (ORPHA:97560):
Primary membranous nephropathy
Idiopathic membranous glomerulonephritis
Primary membranous glomerulonephritis

Associated phenotypes (HPO):
id: HP:0034002
hpo_term: Anti-phospholipase A2 receptor antibody positivity
chpo_term: 抗磷脂酶A2受体抗体阳性
Disease (ORPHA:89937):
Autosomal dominant hypophosphatemia
Autosomal dominant hypophosphatemic rickets
ADHR

Associated phenotypes (HPO):
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030757
hpo_term: Tooth abscess
chpo_term: 牙脓肿
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0020110
hpo_term: Bone fracture
chpo_term: 骨折
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症