TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:140944):
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
CLOVES syndrome

Associated phenotypes (HPO):
id: HP:0009126
hpo_term: Increased adipose tissue
chpo_term: 脂肪组织增多
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001782
hpo_term: Bulbous tips of toes
chpo_term: 球茎状趾尖
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004099
hpo_term: Macrodactyly
chpo_term: 巨指
id: HP:0009487
hpo_term: Ulnar deviation of the hand
chpo_term: 手向尺侧偏斜
id: HP:0010816
hpo_term: Epidermal nevus
chpo_term: 表皮痣
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0100766
hpo_term: Abnormal lymphatic vessel morphology
chpo_term: 淋巴管形态异常
id: HP:0430028
hpo_term: Hyperplasia of the maxilla
chpo_term: 上颌骨增生
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002435
hpo_term: Meningocele
chpo_term: 脑脊膜膨出
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
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:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012725
hpo_term: Cutaneous syndactyly
chpo_term: 皮肤性并指畸形
id: HP:0025476
hpo_term: Testicular lipomatosis
chpo_term: 睾丸脂肪瘤
id: HP:0031287
hpo_term: Seborrheic keratosis
chpo_term: 脂溢性角化病
id: HP:0033794
hpo_term: Acral overgrowth
chpo_term: 肢端过度生长
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
Disease (ORPHA:1188):
Reardon-Baraitser syndrome
Ataxia-hearing loss-intellectual disability syndrome
Ataxia-deafness-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
Disease (ORPHA:729):
Polycythemia rubra vera
Polycythemia vera
PV
Vaquez disease
Acquired primary erythrocytosis
Osler-Vaquez disease

Associated phenotypes (HPO):
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001681
hpo_term: Angina pectoris
chpo_term: 心绞痛
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002488
hpo_term: Acute leukemia
chpo_term: 急性白血病
id: HP:0002863
hpo_term: Myelodysplasia
chpo_term: 骨髓增生异常
id: HP:0011974
hpo_term: Myelofibrosis
chpo_term: 骨髓纤维化
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
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:0002639
hpo_term: Budd-Chiari syndrome
chpo_term: Budd-Chiari综合征
id: HP:0004417
hpo_term: Intermittent claudication
chpo_term: 间歇性跛行
id: HP:0004420
hpo_term: Arterial thrombosis
chpo_term: 动脉血栓形成
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0030242
hpo_term: Portal vein thrombosis
chpo_term: 门静脉血栓形成
id: HP:0032147
hpo_term: Erythromelalgia
chpo_term: 红斑性肢痛症
id: HP:0033842
hpo_term: Early satiety
chpo_term: 早饱
Disease (ORPHA:79083):
Familial partial lipodystrophy type 3
FPLD3
PPARG-related familial partial lipodystrophy
PPARG-related FPLD

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003635
hpo_term: Loss of subcutaneous adipose tissue in limbs
chpo_term: 四肢皮下脂肪组织丢失
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000292
hpo_term: Loss of facial adipose tissue
chpo_term: 面部脂肪组织丢失
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0009800
hpo_term: Maternal diabetes
chpo_term: 母体糖尿病
id: HP:0012084
hpo_term: Abnormality of skeletal muscle fiber size
chpo_term: 骨骼肌纤维的大小异常
id: HP:0100601
hpo_term: Eclampsia
chpo_term: 子痫
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0007457
hpo_term: Prominent veins on trunk
chpo_term: 主干静脉隆凸。
Disease (ORPHA:728):
Polychondropathia
Relapsing polychondritis

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0005310
hpo_term: Large vessel vasculitis
chpo_term: 大血管炎
id: HP:0100662
hpo_term: Chondritis
chpo_term: 软骨炎
id: HP:0200047
hpo_term: Chondritis of pinna
chpo_term: 耳廓软骨炎
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002786
hpo_term: Tracheobronchomalacia
chpo_term: 气管支气管软化
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001686
hpo_term: Loss of voice
chpo_term: 失声
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0004306
hpo_term: Abnormal endocardium morphology
chpo_term: 心内膜形态异常
id: HP:0004418
hpo_term: Thrombophlebitis
chpo_term: 血栓性静脉炎
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0004936
hpo_term: Venous thrombosis
chpo_term: 静脉血栓形成
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0031481
hpo_term: Abnormal mitral valve physiology
chpo_term: 二尖瓣生理异常
id: HP:0033380
hpo_term: Nasal chondritis
chpo_term: 鼻软骨炎
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100534
hpo_term: Episcleritis
chpo_term: 巩膜外层炎
id: HP:0100758
hpo_term: Gangrene
chpo_term: 坏疽
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:79084):
Familial partial lipodystrophy, Köbberling type
FPLD1
Familial partial lipodystrophy type 1

Associated phenotypes (HPO):
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
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:0000991
hpo_term: Xanthomatosis
chpo_term: 黄瘤病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
Disease (ORPHA:1187):
Lethal ataxia with deafness and optic atrophy
Lethal ataxia with hearing loss and optic atrophy
Arts syndrome

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0007258
hpo_term: Severe demyelination of the white matter
chpo_term: 严重白质脱髓鞘
id: HP:0007377
hpo_term: Abnormality of somatosensory evoked potentials
chpo_term: 体感诱发电位异常
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
id: HP:0030272
hpo_term: Abnormal erythrocyte enzyme level
chpo_term: 红细胞酶水平异常
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0008311
hpo_term: Spinal cord posterior columns myelin loss
chpo_term: 脊髓后柱髓鞘脱失
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0011476
hpo_term: Profound sensorineural hearing impairment
chpo_term: 极重度感音神经性听力损失
id: HP:0012389
hpo_term: Appendicular hypotonia
chpo_term: 四肢肌张力低下
Disease (ORPHA:1186):
IOSCA
Infantile-onset spinocerebellar ataxia
Ohaha syndrome
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002270
hpo_term: Abnormality of the autonomic nervous system
chpo_term: 自主神经系统异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:79085):
AKT2-related FPLD
AKT2-related familial partial lipodystrophy

Associated phenotypes (HPO):
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
id: HP:0008993
hpo_term: Increased intraabdominal fat
chpo_term: 腹内脂肪增多
id: HP:0030685
hpo_term: Decreased adiponectin level
chpo_term: 脂联素水平降低
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:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
Disease (ORPHA:1185):
Spinocerebellar ataxia-dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003100
hpo_term: Slender long bone
chpo_term: 长骨修长
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
Disease (ORPHA:79086):
Lawrence syndrome
Acquired lipoatrophic diabetes
Acquired generalized lipodystrophy
Lawrence-Seip syndrome

Associated phenotypes (HPO):
id: HP:0009064
hpo_term: Generalized lipodystrophy
chpo_term: 全身脂肪营养不良
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0003707
hpo_term: Calf muscle pseudohypertrophy
chpo_term: 小腿肌肉假性肥大
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0011025
hpo_term: Abnormal cardiovascular system physiology
chpo_term: 心血管系统生理异常
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001735
hpo_term: Acute pancreatitis
chpo_term: 急性胰腺炎
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0005339
hpo_term: Abnormality of complement system
chpo_term: 补体系统异常
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0007440
hpo_term: Generalized hyperpigmentation
chpo_term: 泛发性色素沉着
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0009592
hpo_term: Astrocytoma
chpo_term: 星形细胞瘤
id: HP:0012064
hpo_term: Unicameral bone cyst
chpo_term: 单房性骨囊肿
Disease (ORPHA:79087):
Progressive cephalothoracic lipodystrophy
Barraquer-Simons syndrome
Acquired partial lipodystrophy

Associated phenotypes (HPO):
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:725):
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
CSWSS syndrome
CSWS
Developmental and epileptic encephalopathy with spike-wave activation in sleep

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002349
hpo_term: Focal aware seizure
chpo_term: 知觉保留的局灶性发作
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0006813
hpo_term: Focal hemiclonic seizure
chpo_term: 局灶性偏侧阵挛发作
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0012010
hpo_term: EEG with frontal focal spike waves
chpo_term: 脑电图，伴额叶局灶棘慢波
id: HP:0012557
hpo_term: EEG with centrotemporal focal spike waves
chpo_term: 脑电图伴中央颞区棘波
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
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:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001345
hpo_term: Psychotic mentation
chpo_term: 精神心理状态
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0009088
hpo_term: Speech articulation difficulties
chpo_term: 言语表达困难
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0011147
hpo_term: Typical absence seizure
chpo_term: 典型的失神发作
id: HP:0011150
hpo_term: Myoclonic absence seizure
chpo_term: 肌阵挛失神发作
id: HP:0012001
hpo_term: EEG with generalized polyspikes
chpo_term: 脑电图，广泛性多棘波
Disease (ORPHA:724):
Idiopathic acute eosinophilic pneumonia
IAEP

Associated phenotypes (HPO):
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0001879
hpo_term: Abnormal eosinophil morphology
chpo_term: 嗜酸性粒细胞形态异常
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽