TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:84085):
Hinman syndrome
Non-neurogenic neurogenic bladder
HAS
HS
Occult neuropathic bladder
Hinman-Allen syndrome

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
Disease (ORPHA:84081):
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
Senior-Boichis syndrome

Associated phenotypes (HPO):
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000108
hpo_term: Renal corticomedullary cysts
chpo_term: 肾皮髓质交界处囊肿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003573
hpo_term: Increased total bilirubin
chpo_term: 总胆红素增加
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0006563
hpo_term: Malformation of the hepatic ductal plate
chpo_term: 肝管板畸形
id: HP:0006571
hpo_term: Reduced number of intrahepatic bile ducts
chpo_term: 肝内胆管数量减少
id: HP:0012591
hpo_term: Abnormal urinary electrolyte concentration
chpo_term: 尿电解质浓度异常
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0020132
hpo_term: Thickening of the tubular basement membrane
chpo_term: 肾小管基底膜增厚
id: HP:0032581
hpo_term: Abnormal renal insterstitial morphology
chpo_term: 肾间质形态异常
id: HP:0032622
hpo_term: Tubular luminal dilatation
chpo_term: 肾小管腔扩张
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0012163
hpo_term: Carotid artery dilatation
chpo_term: 颈动脉扩张
id: HP:0012585
hpo_term: Renal atrophy
chpo_term: 肾萎缩
id: HP:0031589
hpo_term: Suicidal ideation
chpo_term: 自杀意念
Disease (ORPHA:178382):
Congenital rocker-bottom foot
Congenital vertical talus
Congenital convex foot
Congenital convex pes valgus

Associated phenotypes (HPO):
id: HP:0008138
hpo_term: Equinus calcaneus
chpo_term: 马蹄足畸形
id: HP:0001436
hpo_term: Abnormality of the foot musculature
chpo_term: 足部肌肉异常
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0030311
hpo_term: Lower extremity joint dislocation
chpo_term: 下肢关节脱位
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0025238
hpo_term: Foot pain
chpo_term: 足痛
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0030268
hpo_term: Hyperplastic callus formation
chpo_term: 增生性愈伤组织形成
id: HP:0030840
hpo_term: Ankle pain
chpo_term: 脚踝痛
Disease (ORPHA:209919):
Non-Wilsonian hepatic copper toxicosis of infancy and childhood
Idiopathic copper-associated cirrhosis

Associated phenotypes (HPO):
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0025321
hpo_term: Copper accumulation in liver
chpo_term: 肝内铜沉积
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0010839
hpo_term: Increased urinary copper concentration
chpo_term: 尿液铜浓度增高
id: HP:0032254
hpo_term: Increased circulating copper concentration
chpo_term: 血液铜浓度增加
id: HP:0010837
hpo_term: Decreased circulating ceruloplasmin concentration
chpo_term: 血清铜蓝蛋白降低
Disease (ORPHA:3299):
Tetanus

Associated phenotypes (HPO):
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0040212
hpo_term: Risus sardonicus
chpo_term: 痉笑，苦笑面容
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0005363
hpo_term: Humoral immunodeficiency
chpo_term: 体液免疫缺陷
id: HP:0011355
hpo_term: Localized skin lesion
chpo_term: 局限性皮损
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0025258
hpo_term: Stiff neck
chpo_term: 颈部僵硬
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002501
hpo_term: Spasticity of pharyngeal muscles
chpo_term: 喉头痉挛
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003345
hpo_term: Elevated urinary norepinephrine
chpo_term: 尿去甲肾上腺素浓度增高
id: HP:0003639
hpo_term: Elevated urinary epinephrine
chpo_term: 尿肾上腺素增高
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0025145
hpo_term: Rigors
chpo_term: 僵硬
id: HP:0025425
hpo_term: Laryngospasm
chpo_term: 喉痉挛
Disease (ORPHA:141083):
Dacryocystocele
Dacryocele
Nasolacrimal duct cyst
Nasolacrimal mucocele

Associated phenotypes (HPO):
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000620
hpo_term: Dacryocystitis
chpo_term: 泪囊炎
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0012763
hpo_term: Paroxysmal dyspnea
chpo_term: 突发性呼吸困难
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0030829
hpo_term: Abnormal breath sound
chpo_term: 异常呼吸音
id: HP:3000066
hpo_term: Abnormal lacrimal sac morphology
chpo_term: 泪囊形态异常
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0004885
hpo_term: Episodic respiratory distress
chpo_term: 阵发性呼吸窘迫
id: HP:0007651
hpo_term: Ectropion of lower eyelids
chpo_term: 下眼睑外翻
id: HP:0007717
hpo_term: Chronic irritative conjunctivitis
chpo_term: 慢性刺激性结膜炎
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0025337
hpo_term: Red eye
chpo_term: 红眼
id: HP:0025612
hpo_term: Corneal astigmatism
chpo_term: 角膜性散光
id: HP:0030752
hpo_term: Dacryocystocele
chpo_term: 泪囊突出
id: HP:0030864
hpo_term: Intercostal retractions
chpo_term: 肋间隙回缩
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
Disease (ORPHA:423275):
Spinocerebellar ataxia type 40
SCA40

Associated phenotypes (HPO):
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006879
hpo_term: Pontocerebellar atrophy
chpo_term: 脑桥小脑萎缩
Disease (ORPHA:183707):
Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
Infantile LAD-like disease due to RAC2 deficiency

Associated phenotypes (HPO):
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0011990
hpo_term: Abnormality of neutrophil physiology
chpo_term: 中性粒细胞生理功能异常
Disease (ORPHA:199299):
Late-onset isolated ACTH deficiency

Associated phenotypes (HPO):
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
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:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001897
hpo_term: Normocytic anemia
chpo_term: 正细胞性贫血
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0011134
hpo_term: Low-grade fever
chpo_term: 低热
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002608
hpo_term: Celiac disease
chpo_term: 乳糜泻
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0006462
hpo_term: Generalized bone demineralization
chpo_term: 广泛性骨矿质密度降低
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
Disease (ORPHA:238468):
Hypohidrotic ectodermal dysplasia
Anhidrotic ectodermal dysplasia
HED

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0004298
hpo_term: Abnormality of the abdominal wall
chpo_term: 腹壁异常
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0009886
hpo_term: Trichorrhexis nodosa
chpo_term: 结节性脆发症
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0011358
hpo_term: Generalized hypopigmentation of hair
chpo_term: 泛发性毛发色素减退
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100783
hpo_term: Breast aplasia
chpo_term: 乳房发育不全
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:3282):
Multifocal atrial tachycardia
MAT
Chaotic atrial tachycardia

Associated phenotypes (HPO):
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0031593
hpo_term: Abnormal PR interval
chpo_term: PR间期异常
id: HP:6001086
id: HP:6001087
id: HP:0004749
hpo_term: Atrial flutter
chpo_term: 心房扑动
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0034376
hpo_term: Atrioventricular valve regurgitation
chpo_term: 房室瓣反流
id: HP:6000264
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0004758
hpo_term: Effort-induced polymorphic ventricular tachycardia
chpo_term: 劳力诱导型多形性室性心动过速
id: HP:0005162
hpo_term: Abnormal left ventricular function
chpo_term: 左心室功能异常
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0011717
hpo_term: Atrioventricular reentrant tachycardia
chpo_term: 房室折返性心动过速
id: HP:4000141
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0006671
hpo_term: Paroxysmal atrial tachycardia
chpo_term: 阵发性房性心动过速
Disease (ORPHA:3283):
JET
His bundle tachycardia
Junctional ectopic tachycardia

Associated phenotypes (HPO):
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0011716
hpo_term: Junctional ectopic tachycardia
chpo_term: 交界性异位心动过速
id: HP:0100544
hpo_term: Neoplasm of the heart
chpo_term: 心脏肿瘤
Disease (ORPHA:199296):
Congenital isolated ACTH deficiency

Associated phenotypes (HPO):
id: HP:0001998
hpo_term: Neonatal hypoglycemia
chpo_term: 新生儿低血糖
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0011735
hpo_term: Adrenocorticotropin deficient adrenal insufficiency
chpo_term: 促肾上腺皮质激素缺陷性肾上腺功能不全
id: HP:0000835
hpo_term: Adrenal hypoplasia
chpo_term: 肾上腺发育不良
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0002173
hpo_term: Hypoglycemic seizures
chpo_term: 低血糖发作
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
Disease (ORPHA:225154):
Familial infantile bilateral striatal necrosis
Familial infantile striatonigral degeneration
Familial IBSN
Familial infantile striatonigral necrosis

Associated phenotypes (HPO):
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006999
hpo_term: Basal ganglia gliosis
chpo_term: 基底节胶质细胞增生
id: HP:0007374
hpo_term: Atrophy/Degeneration involving the caudate nucleus
chpo_term: 累及尾状核的萎缩/退化
id: HP:0007811
hpo_term: Horizontal pendular nystagmus
chpo_term: 横向摆动眼球震颤
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
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:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0002446
hpo_term: Astrocytosis
chpo_term: 星形胶质细胞增殖
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0006799
hpo_term: Basal ganglia cysts
chpo_term: 基底节囊肿
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0007688
hpo_term: Undetectable light- and dark-adapted electroretinogram
chpo_term: 无法检测的明暗适应视网膜电图
id: HP:0012697
hpo_term: Small basal ganglia
chpo_term: 小基底神经节
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
Disease (ORPHA:494424):
ECAA
ECCA
Extracranial carotid artery aneurysm

Associated phenotypes (HPO):
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0031910
hpo_term: Abnormal cranial nerve physiology
chpo_term: 颅神经生理异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001727
hpo_term: Thromboembolic stroke
chpo_term: 血栓栓塞性脑卒中
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002633
hpo_term: Vasculitis
chpo_term: 血管炎
id: HP:0002634
hpo_term: Arteriosclerosis
chpo_term: 动脉硬化
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0003549
hpo_term: Abnormality of connective tissue
chpo_term: 结缔组织异常
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0012089
hpo_term: Arteritis
chpo_term: 动脉炎
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0031690
hpo_term: Opportunistic infection
chpo_term: 机会性感染
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0005313
hpo_term: Arterial fibromuscular dysplasia
chpo_term: 纤维肌性动脉发育不良
id: HP:0032271
hpo_term: Extrapulmonary tuberculosis
chpo_term: 肺外结核
Disease (ORPHA:44890):
Gastrointestinal stromal sarcoma
GIST
Gastrointestinal stromal tumor

Associated phenotypes (HPO):
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001392
hpo_term: Abnormality of the liver
chpo_term: 肝脏异常
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0006753
hpo_term: Neoplasm of the stomach
chpo_term: 胃新生物
id: HP:0007378
hpo_term: Neoplasm of the gastrointestinal tract
chpo_term: 胃肠道新生物
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
id: HP:0100273
hpo_term: Neoplasm of the colon
chpo_term: 结肠新生物
id: HP:0100723
hpo_term: Gastrointestinal stroma tumor
chpo_term: 胃肠道间质肿瘤
id: HP:0100743
hpo_term: Neoplasm of the rectum
chpo_term: 直肠肿瘤
id: HP:0100751
hpo_term: Esophageal neoplasm
chpo_term: 食管肿瘤
id: HP:0100833
hpo_term: Neoplasm of the small intestine
chpo_term: 小肠新生物
Disease (ORPHA:171719):
Cutis laxa-Marfanoid syndrome

Associated phenotypes (HPO):
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
Disease (ORPHA:217563):
Neonatal RDS
Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal acute respiratory distress due to surfactant protein deficiency

Associated phenotypes (HPO):
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0006517
hpo_term: Intraalveolar phospholipid accumulation
chpo_term: 肺泡蛋白沉积症
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0031457
hpo_term: Pulmonary opacity
chpo_term: 肺部模糊影
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0004876
hpo_term: Spontaneous neonatal pneumothorax
chpo_term: 新生儿自发性气胸
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0006528
hpo_term: Chronic lung disease
chpo_term: 慢性肺病