TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:69736):
BADI
Bilateral acute depigmentation of the iris

Associated phenotypes (HPO):
id: HP:0007990
hpo_term: Hypoplastic iris stroma
chpo_term: 虹膜基质发育不全
id: HP:0008034
hpo_term: Abnormal iris pigmentation
chpo_term: 虹膜异常色素沉着
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0011488
hpo_term: Abnormal corneal endothelium morphology
chpo_term: 角膜内皮形态异常
id: HP:0012372
hpo_term: Abnormal eye morphology
chpo_term: 眼部形态异常
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0012631
hpo_term: Pigment deposition in the trabecular meshwork
chpo_term: 小梁网色素沉积
id: HP:0012634
hpo_term: Iris pigment dispersion
chpo_term: 虹膜色素播散
Disease (ORPHA:1993):
Pai syndrome
Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Associated phenotypes (HPO):
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000190
hpo_term: Abnormal oral frenulum morphology
chpo_term: 口腔系带形态异常
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0004122
hpo_term: Midline defect of the nose
chpo_term: 鼻中线缺陷
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006866
hpo_term: Midline central nervous system lipomas
chpo_term: 中线中枢神经系统脂肪瘤
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
Disease (ORPHA:436144):
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

Associated phenotypes (HPO):
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
Disease (ORPHA:69735):
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Associated phenotypes (HPO):
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
id: HP:0100869
hpo_term: Palmar telangiectasia
chpo_term: 手掌毛细血管扩张
id: HP:0100870
hpo_term: Plantar telangiectasia
chpo_term: 跖部毛细血管扩张
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0100540
hpo_term: Palpebral edema
chpo_term: 眼睑水肿
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
Disease (ORPHA:436141):
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
HIDEA syndrome

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003028
hpo_term: Abnormality of the ankles
chpo_term: 脚踝异常
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
Disease (ORPHA:31112):
Dermatofibrosarcoma protuberans
DFSP

Associated phenotypes (HPO):
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0100244
hpo_term: Fibrosarcoma
chpo_term: 纤维肉瘤
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
Disease (ORPHA:1997):
Ectropion inferior-cleft lip and/or palate syndrome
Clefting-ectropion-conical teeth syndrome
Lagophthalmia-cleft lip and palate syndrome
Blepharocheilodontic syndrome
BCD syndrome
Elschnig syndrome
Blepharo-cheilo-odontic syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000492
hpo_term: Abnormal eyelid morphology
chpo_term: 眼睑形态异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000698
hpo_term: Conical tooth
chpo_term: 锥状齿
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007651
hpo_term: Ectropion of lower eyelids
chpo_term: 下眼睑外翻
id: HP:0009743
hpo_term: Distichiasis
chpo_term: 双行睫
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0012905
hpo_term: Euryblepharon
chpo_term: 睑外翻
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
Disease (ORPHA:210571):
DYT16
Dystonia 16
Early-onset dystonia parkinsonism

Associated phenotypes (HPO):
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:309155):
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
Sandhoff disease, infantile form
GM2 gangliosidosis, Sandhoff variant, infantile form
Beta-hexosaminidase subunit beta deficiency, infantile form

Associated phenotypes (HPO):
id: HP:0033978
hpo_term: Reduced beta-hexosaminidase activity
chpo_term: β-己糖苷酶活性降低
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002267
hpo_term: Exaggerated startle response
chpo_term: 过度惊跳反射
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0004481
hpo_term: Progressive macrocephaly
chpo_term: 渐进性大头畸形
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0010729
hpo_term: Cherry red spot of the macula
chpo_term: 黄斑樱桃红斑
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0010780
hpo_term: Hyperacusis
chpo_term: 听觉过敏
id: HP:0100814
hpo_term: Blue nevus
chpo_term: 蓝痣
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (ORPHA:90301):
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Associated phenotypes (HPO):
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0008675
hpo_term: Enlarged polycystic ovaries
chpo_term: 增大的多囊卵巢
Disease (ORPHA:43116):
Serotonergic syndrome
Serotonin syndrome
Serotonin storm
Serotonin toxicity
Serotonin toxidrome

Associated phenotypes (HPO):
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0032044
hpo_term: Decreased vigilance
chpo_term: 警觉性降低
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001919
hpo_term: Acute kidney injury
chpo_term: 急性肾损伤
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
Disease (ORPHA:457077):
Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome
TAFRO syndrome

Associated phenotypes (HPO):
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012050
hpo_term: Anasarca
chpo_term: 全身水肿
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0005513
hpo_term: Increased megakaryocyte count
chpo_term: 巨核细胞计数增加
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0031052
hpo_term: Elevated vascular endothelial growth factor level
chpo_term: 血管内皮生长因子水平升高
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0031691
hpo_term: Severe viral infection
chpo_term: 重症病毒感染
id: HP:0032262
hpo_term: Pulmonary tuberculosis
chpo_term: 肺结核
id: HP:0032288
hpo_term: Polyclonal elevation of circulating IgG
chpo_term: 血液多克隆IgG增加
Disease (ORPHA:1980):
Bilateral striopallidodentate calcinosis
PFBC
Primary familial brain calcification
Idiopathic basal ganglia calcification
Cerebrovascular ferrocalcinosis
BSPDC

Associated phenotypes (HPO):
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0007146
hpo_term: Bilateral basal ganglia lesions
chpo_term: 双侧基底节病变
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0003388
hpo_term: Easy fatigability
chpo_term: 易疲劳性
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0003394
hpo_term: Muscle spasm
chpo_term: 肌肉痉挛
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007352
hpo_term: Cerebellar calcifications
chpo_term: 小脑钙化
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0011450
hpo_term: Unusual CNS infection
chpo_term: 不寻常的中枢神经系统感染
id: HP:0032180
hpo_term: Abnormal circulating metabolite concentration
chpo_term: 血液代谢物浓度异常
Disease (ORPHA:436174):
CAGSSS
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000399
hpo_term: Prelingual sensorineural hearing impairment
chpo_term: 学语前感音神经性听力损失
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002571
hpo_term: Achalasia
chpo_term: 贲门失弛缓症
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:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0003162
hpo_term: Fasting hypoglycemia
chpo_term: 空腹低血糖
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0005659
hpo_term: Thoracic kyphoscoliosis
chpo_term: 胸椎后侧凸
id: HP:0007470
hpo_term: Periarticular subcutaneous nodules
chpo_term: 关节周围皮下结节
id: HP:0008445
hpo_term: Cervical spinal canal stenosis
chpo_term: 颈椎椎管狭窄
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
Disease (ORPHA:90307):
Parkes Weber syndrome

Associated phenotypes (HPO):
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0001722
hpo_term: High-output congestive heart failure
chpo_term: 高输出充血性心力衰竭
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0004947
hpo_term: Arteriovenous fistula
chpo_term: 动静脉瘘
id: HP:0004948
hpo_term: Vascular tortuosity
chpo_term: 血管迂曲
id: HP:0007394
hpo_term: Prominent superficial blood vessels
chpo_term: 浅表血管突出
id: HP:0008968
hpo_term: Muscle hypertrophy of the lower extremities
chpo_term: 下肢肌肥大
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0032555
hpo_term: Bounding pulse
chpo_term: 洪脉
id: HP:0100553
hpo_term: Hemihypertrophy of lower limb
chpo_term: 下肢偏身肥大
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
id: HP:0000016
hpo_term: Urinary retention
chpo_term: 尿潴留
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0002196
hpo_term: Myelopathy
chpo_term: 脊髓病
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002390
hpo_term: Spinal arteriovenous malformation
chpo_term: 脊髓动静脉畸形
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0005521
hpo_term: Disseminated intravascular coagulation
chpo_term: 弥漫性血管内凝血
id: HP:0006489
hpo_term: Abnormal femoral metaphysis morphology
chpo_term: 股骨干骺端形态异常
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0010484
hpo_term: Hypertrophy of the upper limb
chpo_term: 上肢肥大
id: HP:0012514
hpo_term: Lower limb pain
chpo_term: 下肢疼痛
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0031138
hpo_term: Abnormal B-type natriuretic peptide level
chpo_term: B型钠尿肽水平异常
id: HP:0031939
hpo_term: Conus terminalis arteriovenous malformation
chpo_term: 末端圆锥动静脉畸形
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100766
hpo_term: Abnormal lymphatic vessel morphology
chpo_term: 淋巴管形态异常
id: HP:0100775
hpo_term: Dural ectasia
chpo_term: 硬膜扩张
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0007461
hpo_term: Hemangiomatosis
chpo_term: 多发性血管瘤
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
Disease (ORPHA:90308):
Capillary-lymphatic-venous malformation with segmental distribution
Klippel-Trénaunay syndrome

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000140
hpo_term: Abnormality of the menstrual cycle
chpo_term: 月经周期异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001702
hpo_term: Abnormal tricuspid valve morphology
chpo_term: 三尖瓣形态异常
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002204
hpo_term: Pulmonary embolism
chpo_term: 肺栓塞
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0004414
hpo_term: Abnormality of the pulmonary artery
chpo_term: 肺动脉异常
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0005293
hpo_term: Venous insufficiency
chpo_term: 静脉功能不全
id: HP:0011029
hpo_term: Internal hemorrhage
chpo_term: 内出血
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0100724
hpo_term: Hypercoagulability
chpo_term: 高凝状态
id: HP:0100784
hpo_term: Peripheral arteriovenous fistula
chpo_term: 外围动静脉瘘
Disease (ORPHA:280679):
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Associated phenotypes (HPO):
id: HP:0011834
hpo_term: Moyamoya phenomenon
chpo_term: 烟雾现象
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007970
hpo_term: Congenital ptosis
chpo_term: 先天性上睑下垂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000454
hpo_term: Flared nostrils
chpo_term: 喇叭状鼻孔
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小