Disease (ORPHA:280365):
Autosomal semi-dominant severe lipodystrophic laminopathy

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
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:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0003717
hpo_term: Minimal subcutaneous fat
chpo_term: 最低限度的皮下脂肪
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000287
hpo_term: Increased facial adipose tissue
chpo_term: 面部脂肪组织增多
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000468
hpo_term: Increased adipose tissue around the neck
chpo_term: 颈周脂肪组织增多
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001870
hpo_term: Acroosteolysis of distal phalanges (feet)
chpo_term: 远节趾骨肢端溶骨
id: HP:0002621
hpo_term: Atherosclerosis
chpo_term: 动脉粥样硬化
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0003292
hpo_term: Decreased serum leptin
chpo_term: 血清瘦素水平降低
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:0004416
hpo_term: Precocious atherosclerosis
chpo_term: 早发性动脉粥样硬化
id: HP:0004943
hpo_term: Accelerated atherosclerosis
chpo_term: 加速性动脉粥样硬化
id: HP:0006288
hpo_term: Advanced eruption of teeth
chpo_term: 牙齿过早萌出
id: HP:0008968
hpo_term: Muscle hypertrophy of the lower extremities
chpo_term: 下肢肌肥大
id: HP:0008993
hpo_term: Increased intraabdominal fat
chpo_term: 腹内脂肪增多
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0030685
hpo_term: Decreased adiponectin level
chpo_term: 脂联素水平降低
id: HP:0040266
hpo_term: Proximal upper limb muscle hypertrophy
chpo_term: 上肢近端肌肉肥大
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: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:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0005150
hpo_term: Abnormal atrioventricular conduction
chpo_term: 房室传导异常
id: HP:0100607
hpo_term: Dysmenorrhea
chpo_term: 痛经
id: HP:0004308
hpo_term: Ventricular arrhythmia
chpo_term: 室性心律失常