Disease (OMIM:619743):
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
Combined oxidative phosphorylation deficiency 55

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0012707
hpo_term: Elevated brain lactate level by MRS
chpo_term: MRS发现乳酸水平升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012625
hpo_term: Stage 3 chronic kidney disease
chpo_term: 慢性肾病3期
id: HP:0010602
hpo_term: Type 2 muscle fiber predominance
chpo_term: 2型肌纤维占优势
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0004912
hpo_term: Hypophosphatemic rickets
chpo_term: 低磷性佝偻病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0001488
hpo_term: Bilateral ptosis
chpo_term: 双侧眼睑下垂
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0005101
hpo_term: High-frequency hearing impairment
chpo_term: 高频听力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0012408
hpo_term: Medullary nephrocalcinosis
chpo_term: 肾髓质钙化症
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000590
hpo_term: Progressive external ophthalmoplegia
chpo_term: 进行性眼外肌麻痹
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0001994
hpo_term: Renal Fanconi syndrome
chpo_term: 肾范可尼综合征
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症