5C54.2
多种糖基化或其他路径的紊乱
Disorders of multiple glycosylation or other pathways
- 层级
- 5 级
跨章引用 同一概念在其他章节另有编码
索引词 可用于检索该条目的同义词与别名
- 多种糖基化或其他路径的紊乱
- 多萜醇-磷酸盐-甘露糖合酶1缺乏症
- 碳水化合物缺乏的糖蛋白综合征1E型
- 先天性糖基化1E型疾病
- CDG[先天性糖基化紊乱]综合征1E型
- GDP-Man: Dol-P-甘露糖基转移酶缺乏症
- 甘露糖-P-多酚的利用缺陷1
- 碳水化合物缺乏的糖蛋白综合征1F型
- 先天性糖基化1F型疾病
- CDG[先天性糖基化紊乱]综合征1F型
- Lec35缺乏症
- β-1,4-半乳糖基转移酶缺乏症
- 2D碳水化合物缺乏型糖蛋白综合征
- 先天性糖基化2D型
- CDG[先天性糖基化障碍]综合征2D型
- CMP-唾液酸转运蛋白缺乏
- CDG[先天性糖基化紊乱] 2F型综合征
- 2F的碳水化合物缺乏糖蛋白综合征
- 先天性糖基化2F型
- 白细胞黏附缺陷2型
- CDG[先天性糖基化紊乱]综合征2C型
- LAD-II[白细胞黏附缺陷2型]
- Rambam-Hasharon综合征
- GDP-岩藻糖转运蛋白缺乏
- 多萜醇激酶缺乏症
- 多萜醇磷酸盐缺乏引起的肌张力低下或鱼鳞病
- 1M碳水化合物缺乏型糖蛋白综合征
- 先天性糖基化型1M
- CDG[先天性糖基化紊乱]综合征型1M
- 保守的寡聚高尔基复合体缺乏
- 保守寡聚高尔基复合体1缺乏的组分
- CDG综合征2G型
- 保守寡聚高尔基复合体4缺乏的组分
- CDG[先天性糖基化紊乱]综合征2J型
- 先天性糖基化型2J型
- 保守寡聚高尔基复合体5组分缺乏
- 保守寡聚高尔基复合体7缺乏的组分
- 2E型碳水化合物缺乏型糖蛋白综合征
- 先天性糖基化型2E型
- CDG[先天性糖基化紊乱] 2E型综合征
- 保守寡聚高尔基复合体8缺乏的组分
- 2H型碳水化合物缺乏糖蛋白综合征
- CDG[先天性糖基化障碍]综合征2H型
- 先天性糖基化障碍2h型
- V-ATPase缺陷
英文词条（45）
- Disorders of multiple glycosylation or other pathways
- Dolichol-phosphate-mannose synthase 1 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1E
- Carbohydrate deficient glycoprotein syndrome type 1E
- Congenital disorder of glycosylation type 1E
- GDP-Man: Dol-P-mannosyltransferase deficiency
- Mannose-P-dolichol utilisation defect 1
- CDG - [Congenital disorder of glycosylation] syndrome type 1F
- Carbohydrate deficient glycoprotein syndrome type 1F
- Congenital disorder of glycosylation type 1F
- Lec35 deficiency
- Beta-1,4-galactosyltransferase deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 2D
- Carbohydrate deficient glycoprotein syndrome type 2D
- Congenital disorder of glycosylation type 2D
- CMP-sialic acid transporter deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 2F
- Carbohydrate deficient glycoprotein syndrome type 2F
- Congenital disorder of glycosylation type 2F
- Leukocyte adhesion deficiency type 2
- CDG - [Congenital disorder of glycosylation] syndrome type 2C
- GDP-fucose transporter deficiency
- LAD-II - [Leukocyte adhesion deficiency type 2]
- Rambam-Hasharon syndrome
- Dolichol kinase deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 1M
- Carbohydrate deficient glycoprotein syndrome type 1M
- Congenital disorder of glycosylation type 1M
- Hypotonia or ichthyosis due to dolichol phosphate deficiency
- Conserved oligomeric Golgi complex deficiencies
- Component of conserved oligomeric Golgi complex 1 deficiency
- CDG syndrome type 2G
- Component of conserved oligomeric Golgi complex 4 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 2J
- Congenital disorder of glycosylation type 2J
- Component of conserved oligomeric Golgi complex 5 deficiency
- Component of conserved oligomeric Golgi complex 7 deficiency
- CDG - [Congenital disorder of glycosylation] syndrome type 2E
- Carbohydrate deficient glycoprotein syndrome type 2E
- Congenital disorder of glycosylation type 2E
- Component of conserved oligomeric Golgi complex 8 deficiency
- CDG - [[Congenital disorder of glycosylation] syndrome type 2H
- Carbohydrate deficient glycoprotein syndrome type 2H
- Congenital disorder of glycosylation type 2h
- V-ATPase deficiencies
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。