Disease (OMIM:105210):
Amyloidosis, hereditary, transthyretin-related
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007841
hpo_term: Amyloid deposition in the vitreous humor
chpo_term: 玻璃体淀粉样蛋白沉积
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0012185
hpo_term: Constrictive median neuropathy
chpo_term: 压迫性正中神经病变
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001271
hpo_term: Polyneuropathy
chpo_term: 多发性神经病
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0010544
hpo_term: Vertical nystagmus
chpo_term: 垂直眼球震颤
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
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:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0011468
hpo_term: Facial tics
chpo_term: 面部抽动
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0011034
hpo_term: Amyloidosis
chpo_term: 淀粉样变
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002401
hpo_term: Stroke-like episode
chpo_term: 卒中样发作
id: HP:0032070
hpo_term: Leptomeningeal enhancement
chpo_term: 软脑膜增强