Disease (OMIM:603041):
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0033842
hpo_term: Early satiety
chpo_term: 早饱
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0002579
hpo_term: Gastrointestinal dysmotility
chpo_term: 胃肠动力障碍
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0003548
hpo_term: Subsarcolemmal accumulations of abnormally shaped mitochondria
chpo_term: 肌膜下形态异常的线粒体沉积
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0030143
hpo_term: Hyperactive bowel sounds
chpo_term: 肠鸣音亢进
id: HP:0012533
hpo_term: Allodynia
chpo_term: 痛觉过敏
id: HP:0034276
hpo_term: Elevated circulating thymidine concentration
chpo_term: 循环胸苷水平升高
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
id: HP:0034277
hpo_term: Elevated circulating deoxyuridine concentration
chpo_term: 循环脱氧尿苷水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001533
hpo_term: Slender build
chpo_term: 修长的身材
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:6000570
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0031368
hpo_term: Intestinal perforation
chpo_term: 肠穿孔
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0007103
hpo_term: Hypointensity of cerebral white matter on MRI
chpo_term: MRI脑白质低信号
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0003688
hpo_term: Cytochrome C oxidase-negative muscle fibers
chpo_term: 细胞色素C氧化酶阴性肌肉纤维
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003689
hpo_term: Multiple mitochondrial DNA deletions
chpo_term: 线粒体DNA多处缺失
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0002253
hpo_term: Colonic diverticula
chpo_term: 结肠憩室
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0032155
hpo_term: Abdominal cramps
chpo_term: 腹部绞痛
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失