TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2820):
Spastic paraplegia-nephritis-deafness syndrome
Fitzsimmons-Walson-Mellor syndrome
Spastic paraplegia-nephritis-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
Disease (ORPHA:232):
Sickle cell anemia

Associated phenotypes (HPO):
id: HP:0004870
hpo_term: Chronic hemolytic anemia
chpo_term: 慢性溶血性贫血
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0010885
hpo_term: Avascular necrosis
chpo_term: 缺血性坏死
id: HP:0011981
hpo_term: Pigment gallstones
chpo_term: 色素性胆结石
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001406
hpo_term: Intrahepatic cholestasis
chpo_term: 肝内胆汁淤积
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002597
hpo_term: Abnormality of the vasculature
chpo_term: 脉管系统异常
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0008282
hpo_term: Unconjugated hyperbilirubinemia
chpo_term: 高非结合胆红素血症
id: HP:0011886
hpo_term: Hyphema
chpo_term: 前房积血
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0025326
hpo_term: Retinal arterial occlusion
chpo_term: 视网膜动脉阻塞
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0031090
hpo_term: Finger dactylitis
chpo_term: 手指发炎
id: HP:0034336
hpo_term: Splenic infarction
chpo_term: 脾梗死
id: HP:0200023
hpo_term: Priapism
chpo_term: 阴茎持续勃起症
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
Disease (ORPHA:234):
Dubin-Johnson syndrome
Dubin-Sprinz disease
Sprinz-Nelson syndrome
Hyperbilirubinemia type 2

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0012086
hpo_term: Abnormal urinary color
chpo_term: 尿液颜色异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:280224):
Transitional PMD
Pelizaeus-Merzbacher disease, transitional form

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (ORPHA:231):
Dracunculiasis
Medinensis
Dracunculosis
Medina worm disease
Guinea worm disease

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011134
hpo_term: Low-grade fever
chpo_term: 低热
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0100838
hpo_term: Recurrent cutaneous abscess formation
chpo_term: 复发性皮肤脓肿
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:230):
Dopamine beta-hydroxylase deficiency
DBH deficiency

Associated phenotypes (HPO):
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0011979
hpo_term: Elevated urinary dopamine
chpo_term: 尿多巴胺增高
id: HP:0012384
hpo_term: Rhinitis
chpo_term: 鼻炎
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0009020
hpo_term: Exercise-induced muscle fatigue
chpo_term: 运动诱发的肌肉疲劳
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012877
hpo_term: Retrograde ejaculation
chpo_term: 逆行射精
id: HP:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0012670
hpo_term: Orthostatic syncope
chpo_term: 直立性晕厥
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
Disease (ORPHA:2807):
CPP
Choroid plexus papilloma
Papilloma of choroid plexus

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
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:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0200022
hpo_term: Choroid plexus papilloma
chpo_term: 脉络丛乳头状瘤
Disease (ORPHA:2808):
Familial vocal cord dysfunction
Gerhardt syndrome
Laryngeal abductor paralysis

Associated phenotypes (HPO):
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
Disease (ORPHA:399096):
MMD3
Distal anoctaminopathy
Miyoshi muscular dystrophy type 3

Associated phenotypes (HPO):
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0009053
hpo_term: Distal lower limb muscle weakness
chpo_term: 下肢远端肌无力
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0030234
hpo_term: Highly elevated creatine kinase
chpo_term: 肌酸磷酸激酶明显上升
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0009049
hpo_term: Peroneal muscle atrophy
chpo_term: 腓骨肌萎缩
Disease (ORPHA:2812):
Parana hard skin syndrome
Hard skin syndrome, Parana type

Associated phenotypes (HPO):
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006596
hpo_term: Restricted chest movement
chpo_term: 胸廓活动受限
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
Disease (ORPHA:2815):
Wells-Jankovic syndrome
Spastic paraparesis-deafness syndrome
Spastic paraparesis-hearing loss syndrome

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:229):
Cystic medial necrosis of aorta
Familial aortic dissection
Annuloaortic ectasia

Associated phenotypes (HPO):
id: HP:0200146
hpo_term: Mucoid extracellular matrix accumulation
chpo_term: 粘液样细胞外基质积聚
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
id: HP:0004959
hpo_term: Descending thoracic aorta aneurysm
chpo_term: 胸降主动脉动脉瘤
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0012499
hpo_term: Descending aortic dissection
chpo_term: 降主动脉夹层
id: HP:0012763
hpo_term: Paroxysmal dyspnea
chpo_term: 突发性呼吸困难
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002647
hpo_term: Aortic dissection
chpo_term: 主动脉夹层
id: HP:0004944
hpo_term: Dilatation of the cerebral artery
chpo_term: 脑动脉扩张
id: HP:0004950
hpo_term: Peripheral arterial stenosis
chpo_term: 外周动脉狭窄
id: HP:0012163
hpo_term: Carotid artery dilatation
chpo_term: 颈动脉扩张
Disease (ORPHA:280219):
Classic PMD
Pelizaeus-Merzbacher disease, classic form

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0011203
hpo_term: EEG with abnormally slow frequencies
chpo_term: 伴异常缓慢频率的脑电图
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0040330
hpo_term: Confluent hyperintensity of cerebral white matter on MRI
chpo_term: 脑白质融合性高信号的MRI表现
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0030187
hpo_term: Titubation
chpo_term: 蹒跚
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0031954
hpo_term: Dystonic gait
chpo_term: 肌张力障碍性步态
Disease (ORPHA:226):
Phenylketonuria type 2
Hyperphenylalaninemia due to dihydropteridine reductase deficiency
PKU type 2
Dihydropteridine reductase deficiency

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
Disease (ORPHA:227):
Diphallia

Associated phenotypes (HPO):
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0100599
hpo_term: Bifid penis
chpo_term: 二裂阴茎
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0008706
hpo_term: Distal urethral duplication
chpo_term: 远端尿道重复畸形
id: HP:0030275
hpo_term: Ectopic scrotum
chpo_term: 异位阴囊
id: HP:0100600
hpo_term: Penoscrotal transposition
chpo_term: 阴茎阴囊转位
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:0000039
hpo_term: Epispadias
chpo_term: 尿道上裂
id: HP:0000073
hpo_term: Ureteral duplication
chpo_term: 输尿管重复
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0003172
hpo_term: Abnormality of the pubic bone
chpo_term: 耻骨异常
id: HP:0004712
hpo_term: Renal malrotation
chpo_term: 肾旋转不良
id: HP:0008669
hpo_term: Abnormal spermatogenesis
chpo_term: 生精异常
id: HP:0010475
hpo_term: Cloacal exstrophy
chpo_term: 泄殖腔外翻
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011140
hpo_term: Gastrointestinal duplication
chpo_term: 胃肠重复
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0004792
hpo_term: Rectoperineal fistula
chpo_term: 直肠会阴瘘
id: HP:0005223
hpo_term: Duplicated colon
chpo_term: 重复结肠
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
Disease (ORPHA:222):
Erosive pustular dermatosis of the scalp

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
Disease (ORPHA:223):
Nephrogenic diabetes insipidus
Arginine vasopressin resistance

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
id: HP:0009806
hpo_term: Nephrogenic diabetes insipidus
chpo_term: 肾性尿崩症
id: HP:0003158
hpo_term: Hyposthenuria
chpo_term: 低渗尿
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0004906
hpo_term: Hypernatremic dehydration
chpo_term: 高钠脱水
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
Disease (ORPHA:280234):
Null syndrome
Pelizaeus-Merzbacher disease, null syndrome
PLP1 null syndrome

Associated phenotypes (HPO):
id: HP:0003134
hpo_term: Abnormality of peripheral nerve conduction
chpo_term: 周围神经传导异常
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0007020
hpo_term: Progressive spastic paraplegia
chpo_term: 进行性痉挛性截瘫
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002478
hpo_term: Progressive spastic quadriplegia
chpo_term: 进行性痉挛性四肢瘫
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
Disease (ORPHA:220):
Denys-Drash syndrome
Drash syndrome
Wilms tumor-DSD syndrome
Wilms tumor-disorder of sex development syndrome

Associated phenotypes (HPO):
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
Disease (ORPHA:399081):
KLHL9-related early-onset distal myopathy

Associated phenotypes (HPO):
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0001430
hpo_term: Abnormality of the calf musculature
chpo_term: 小腿肌肉异常
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0006844
hpo_term: Absent patellar reflexes
chpo_term: 膝反射消失
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0009031
hpo_term: Amyotrophy of ankle musculature
chpo_term: 踝部肌肉萎缩
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
Disease (ORPHA:178303):
Monosomy 8q22.1
Nablus mask-like facial syndrome
8q22.1 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0100024
hpo_term: Conspicuously happy disposition
chpo_term: 显着快乐的性格
id: HP:0100679
hpo_term: Lack of skin elasticity
chpo_term: 皮肤弹性缺乏
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0005288
hpo_term: Abnormality of the nares
chpo_term: 鼻孔异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指