Disease (OMIM:606721):
Lipodystrophy, familial partial, type 7
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7

Associated phenotypes (HPO):
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0009938
hpo_term: Sunken cheeks
chpo_term: 脸颊凹陷
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0005328
hpo_term: Progeroid facial appearance
chpo_term: 早衰面容
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0002108
hpo_term: Spontaneous pneumothorax
chpo_term: 自发性气胸
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
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:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0005995
hpo_term: Decreased adipose tissue around neck
chpo_term: 颈部脂肪组织减少
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0100027
hpo_term: Recurrent pancreatitis
chpo_term: 复发性胰腺炎
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009762
hpo_term: Facial wrinkling
chpo_term: 面部皱褶
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0005320
hpo_term: Lack of facial subcutaneous fat
chpo_term: 面部皮下脂肪缺乏
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常