TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:428):
AD hypocalcemia
Autosomal dominant hypocalcemia

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0002356
hpo_term: Writer's cramp
chpo_term: 书写痉挛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0004372
hpo_term: Reduced consciousness/confusion
chpo_term: 意识减弱/意识错乱
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012608
hpo_term: Hypermagnesiuria
chpo_term: 高镁尿症
id: HP:0040148
hpo_term: Cortical myoclonus
chpo_term: 皮质性肌阵挛
Disease (ORPHA:427):
Familial hypoaldosteronism

Associated phenotypes (HPO):
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0000848
hpo_term: Increased circulating renin level
chpo_term: 血肾素水平升高
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
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:0004319
hpo_term: Decreased circulating aldosterone level
chpo_term: 醛固酮减少症
id: HP:0011106
hpo_term: Hypovolemia
chpo_term: 血容量不足
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
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:0002049
hpo_term: Proximal renal tubular acidosis
chpo_term: 近端肾小管酸中毒
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012364
hpo_term: Decreased urinary potassium
chpo_term: 尿钾降低
Disease (ORPHA:101150):
DYT5b
Tyrosine hydroxylase deficiency
Autosomal recessive dopa-responsive dystonia
Tyrosine hydroxylase-deficient dopa-responsive dystonia
Autosomal recessive Segawa syndrome

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003781
hpo_term: Excessive salivation
chpo_term: 唾液分泌过多
id: HP:0003785
hpo_term: Decreased CSF homovanillic acid concentration
chpo_term: 脑脊液高香草酸水平降低
id: HP:0004373
hpo_term: Focal dystonia
chpo_term: 局限性肌张力障碍
id: HP:0010553
hpo_term: Oculogyric crisis
chpo_term: 动眼神经危象
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002448
hpo_term: Progressive encephalopathy
chpo_term: 进行性脑病
Disease (ORPHA:94088):
Familial renal hypouricemia
Hereditary renal hypouricemia

Associated phenotypes (HPO):
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0000091
hpo_term: Abnormal renal tubule morphology
chpo_term: 肾小管形态异常
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0008651
hpo_term: Uric acid urolithiasis independent of gout
chpo_term: 非痛风引起的尿路尿酸结石
id: HP:0012211
hpo_term: Abnormal renal physiology
chpo_term: 肾脏生理异常
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0012595
hpo_term: Mild proteinuria
chpo_term: 轻度蛋白尿
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
Disease (ORPHA:429):
Hypochondroplasia

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002823
hpo_term: Abnormality of femur morphology
chpo_term: 股骨形态异常
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0011405
hpo_term: Childhood onset short-limb short stature
chpo_term: 儿童期发病的短肢型矮小
Disease (ORPHA:94089):
Pseudohypoparathyroidism type 1B

Associated phenotypes (HPO):
id: HP:0000852
hpo_term: Pseudohypoparathyroidism
chpo_term: 假性甲状旁腺功能减退症
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0003456
hpo_term: Low urinary cyclic AMP response to PTH administration
chpo_term: 尿环腺苷酸对甲状旁腺素（PTH）治疗反应低下
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
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:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003034
hpo_term: Diaphyseal sclerosis
chpo_term: 骨干硬化症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0003472
hpo_term: Hypocalcemic tetany
chpo_term: 低钙搐搦
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0003909
hpo_term: Cortical subperiosteal resorption of humeral metaphyses
chpo_term: 肱骨干骺端皮质骨膜下吸收
id: HP:0005700
hpo_term: Increased bone density with cystic changes
chpo_term: 骨密度增加伴囊性变
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011458
hpo_term: Abdominal symptom
chpo_term: 腹部症状
id: HP:0012049
hpo_term: Laryngeal dystonia
chpo_term: 喉肌张力障碍
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0008227
hpo_term: Pituitary resistance to thyroid hormone
chpo_term: 垂体对甲状腺激素不敏感
id: HP:0003761
hpo_term: Calcinosis
chpo_term: 钙质沉着
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:424):
Resistance to thyroid stimulating hormone
Familial hyperthyroidism due to mutations in TSH receptor
Familial non-immune hyperthyroidism

Associated phenotypes (HPO):
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0011790
hpo_term: Activating thyroid-stimulating hormone receptor defect
chpo_term: 促甲状腺激素受体激活性缺陷
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0002378
hpo_term: Hand tremor
chpo_term: 手部震颤
id: HP:0008249
hpo_term: Thyroid hyperplasia
chpo_term: 甲状腺增生
id: HP:0011784
hpo_term: Thyrotoxicosis with diffuse goiter
chpo_term: 甲状腺毒症伴弥漫性甲状腺肿
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0030057
hpo_term: Autoimmune antibody positivity
chpo_term: 自身免疫性抗体阳性
Disease (ORPHA:423):
Hyperthermia of anesthesia
Malignant hyperthermia of anesthesia

Associated phenotypes (HPO):
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0004755
hpo_term: Supraventricular tachycardia
chpo_term: 室上性心动过速
id: HP:0004756
hpo_term: Ventricular tachycardia
chpo_term: 室性心动过速
id: HP:0011964
hpo_term: Intermittent painful muscle spasms
chpo_term: 间歇性痛性肌痉挛
id: HP:0012416
hpo_term: Hypercapnia
chpo_term: 高碳酸血症
id: HP:0031320
hpo_term: Cardiomyocyte mitochondrial proliferation
chpo_term: 心肌细胞线粒体增多
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0002913
hpo_term: Myoglobinuria
chpo_term: 肌红蛋白尿
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0008331
hpo_term: Elevated creatine kinase after exercise
chpo_term: 运动后肌酸激酶升高
id: HP:0008942
hpo_term: Acute rhabdomyolysis
chpo_term: 急性横纹肌溶解症
id: HP:0008978
hpo_term: Necrotizing myopathy
chpo_term: 坏死性肌病
id: HP:0009045
hpo_term: Exercise-induced rhabdomyolysis
chpo_term: 运动诱发的横纹肌溶解
id: HP:3000005
hpo_term: Abnormality of masseter muscle
chpo_term: 咬肌异常
Disease (ORPHA:425):
ApoA-I deficiency
Familial hypoalphalipoproteinemia
Apolipoprotein A-I deficiency
Familial apoA-I deficiency

Associated phenotypes (HPO):
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001114
hpo_term: Xanthelasma
chpo_term: 睑黄瘤
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0005181
hpo_term: Premature coronary artery atherosclerosis
chpo_term: 早发性冠心病
Disease (ORPHA:99771):
Bifidity of the uvula
Bifid uvula
Uvular cleft

Associated phenotypes (HPO):
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0008376
hpo_term: Nasal, dysarthic speech
chpo_term: 鼻，构音障碍
id: HP:0011819
hpo_term: Submucous cleft soft palate
chpo_term: 粘膜下软腭裂
id: HP:0410030
hpo_term: Cleft lip
chpo_term: 唇裂
Disease (ORPHA:94083):
X-linked intellectual disability-dystonia-dysarthria syndrome
Partington syndrome
Partington-Mulley syndrome

Associated phenotypes (HPO):
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0000053
hpo_term: Macroorchidism
chpo_term: 巨睾
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0007380
hpo_term: Facial telangiectasia
chpo_term: 面部毛细血管扩张
Disease (ORPHA:99772):
Cleft velum palatinum
Cleft velum
Cleft soft palate

Associated phenotypes (HPO):
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0011469
hpo_term: Nasal regurgitation
chpo_term: 鼻腔返流
id: HP:0200136
hpo_term: Oral-pharyngeal dysphagia
chpo_term: 口咽部吞咽困难
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0011219
hpo_term: Short face
chpo_term: 短脸
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
Disease (ORPHA:422):
Idiopathic/heritable pulmonary arterial hypertension
Idiopathic and/or familial pulmonary arterial hypertension

Associated phenotypes (HPO):
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0011025
hpo_term: Abnormal cardiovascular system physiology
chpo_term: 心血管系统生理异常
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0005133
hpo_term: Right ventricular dilatation
chpo_term: 右心室扩张
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0030848
hpo_term: Elevated jugular venous pressure
chpo_term: 颈静脉压升高
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
Disease (ORPHA:94080):
Non-secreting paraganglioma
Non-functioning paraganglioma

Associated phenotypes (HPO):
id: HP:0002668
hpo_term: Paraganglioma
chpo_term: 副神经节瘤
id: HP:0001069
hpo_term: Episodic hyperhidrosis
chpo_term: 发作性多汗症
id: HP:0001095
hpo_term: Hypertensive retinopathy
chpo_term: 高血压性视网膜病变
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002331
hpo_term: Recurrent paroxysmal headache
chpo_term: 反复发作性头痛
id: HP:0002574
hpo_term: Episodic abdominal pain
chpo_term: 阵发性腹痛
id: HP:0002640
hpo_term: Hypertension associated with pheochromocytoma
chpo_term: 嗜铬细胞瘤高血压
id: HP:0002864
hpo_term: Paraganglioma of head and neck
chpo_term: 头部和颈部的副神经节瘤
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0003345
hpo_term: Elevated urinary norepinephrine
chpo_term: 尿去甲肾上腺素浓度增高
id: HP:0003574
hpo_term: Positive regitine blocking test
chpo_term: 酚妥拉明阻断试验阳性
id: HP:0003639
hpo_term: Elevated urinary epinephrine
chpo_term: 尿肾上腺素增高
id: HP:0008629
hpo_term: Pulsatile tinnitus
chpo_term: 搏动性耳鸣
id: HP:0010532
hpo_term: Paroxysmal vertigo
chpo_term: 发作性眩晕
id: HP:0011703
hpo_term: Sinus tachycardia
chpo_term: 窦性心动过速
id: HP:0011979
hpo_term: Elevated urinary dopamine
chpo_term: 尿多巴胺增高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0031284
hpo_term: Flushing
chpo_term: 红晕
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001293
hpo_term: Cranial nerve compression
chpo_term: 颅神经受压
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0025269
hpo_term: Panic attack
chpo_term: 惊恐发作（急性焦虑发作）
Disease (ORPHA:94086):
Drummond syndrome
Blue diaper syndrome
Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

Associated phenotypes (HPO):
id: HP:0040317
hpo_term: Blue urine
chpo_term: 蓝色尿液
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0031883
hpo_term: Increased proinsulin:insulin ratio
chpo_term: 胰岛素原：胰岛素比例升高
Disease (ORPHA:85128):
Västerbotten dystrophy
Bothnia retinal dystrophy

Associated phenotypes (HPO):
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
id: HP:0030469
hpo_term: Abnormal dark-adapted electroretinogram
chpo_term: 暗适应视网膜电图异常
id: HP:0030474
hpo_term: Undetectable dark-adapted electroretinogram
chpo_term: 无法检出暗适应视网膜电图
id: HP:0030618
hpo_term: Increased OCT-measured foveal thickness
chpo_term: OCT 测量法中心凹厚度增加
id: HP:0000493
hpo_term: Abnormal foveal morphology
chpo_term: 黄斑中央凹形态异常
id: HP:0000539
hpo_term: Abnormality of refraction
chpo_term: 屈光异常
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
id: HP:0032118
hpo_term: Retinitis
chpo_term: 视网膜炎
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000610
hpo_term: Abnormal choroid morphology
chpo_term: 脉络膜形态异常
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001129
hpo_term: Large central visual field defect
chpo_term: 中央大视野缺损
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007984
hpo_term: Electronegative electroretinogram
chpo_term: 视网膜电流图负波形
id: HP:0030528
hpo_term: Paracentral scotoma
chpo_term: 旁中央暗点
id: HP:0030529
hpo_term: Ring scotoma
chpo_term: 环形暗点
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
Disease (ORPHA:457260):
X-linked intellectual disability-hypotonia-movement disorder syndrome

Associated phenotypes (HPO):
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002539
hpo_term: Cortical dysplasia
chpo_term: 皮质发育不良
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
Disease (ORPHA:417):
Neonatal severe primary hyperparathyroidism
NSHPT

Associated phenotypes (HPO):
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0100530
hpo_term: Abnormal calcium-phosphate regulating hormone level
chpo_term: 磷酸盐和钙的调节激素异常
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小