Disease (OMIM:187300):
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
Telangiectasia, hereditary hemorrhagic, type 1

Associated phenotypes (HPO):
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0001694
hpo_term: Right-to-left shunt
chpo_term: 右向左分流
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0011934
hpo_term: Dilatation of mesenteric artery
chpo_term: 肠系膜动脉扩张
id: HP:0012151
hpo_term: Hemothorax
chpo_term: 血胸
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0000434
hpo_term: Nasal mucosa telangiectasia
chpo_term: 鼻粘膜毛细血管扩张
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0002390
hpo_term: Spinal arteriovenous malformation
chpo_term: 脊髓动静脉畸形
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0040223
hpo_term: Pulmonary hemorrhage
chpo_term: 肺出血
id: HP:0100858
hpo_term: Dilatation of celiac artery
chpo_term: 腹腔动脉扩张
id: HP:0002629
hpo_term: Gastrointestinal arteriovenous malformation
chpo_term: 胃肠道动静脉畸形
id: HP:0002707
hpo_term: Palate telangiectasia
chpo_term: 腭毛细血管扩张
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0002626
hpo_term: Venous varicosities of celiac and mesenteric vessels
chpo_term: 腹腔和肠系膜血管静脉曲张
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006107
hpo_term: Fingerpad telangiectases
chpo_term: 指垫毛细血管扩张
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0001232
hpo_term: Nail bed telangiectasia
chpo_term: 甲床毛细血管扩张
id: HP:0002642
hpo_term: Arteriovenous fistulas of celiac and mesenteric vessels
chpo_term: 腹腔及肠系膜血管动静脉瘘
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0030877
hpo_term: Reduced FEV1/FVC ratio
chpo_term: 1秒率下降
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0006574
hpo_term: Hepatic arteriovenous malformation
chpo_term: 肝动静脉畸形
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002875
hpo_term: Exertional dyspnea
chpo_term: 劳力性呼吸困难
id: HP:0000214
hpo_term: Lip telangiectasia
chpo_term: 唇部毛细血管扩张
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0000471
hpo_term: Gastrointestinal angiodysplasia
chpo_term: 胃肠道血管发育不良
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0032542
hpo_term: Exacerbated by pregnancy
chpo_term: 孕期加重
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0025709
hpo_term: Intermediate young adult onset
chpo_term: 青年成人中期起病
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0000227
hpo_term: Tongue telangiectasia
chpo_term: 舌毛细血管扩张
id: HP:0002604
hpo_term: Gastrointestinal telangiectasia
chpo_term: 胃肠道毛细血管扩张
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血