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congenital disorder of glycosylation Iaa
Summary
- Synonym
-
- congenital disorder of glycosylation 1aa
- Definition
- A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080553
- Mondo Disease Ontology
- OMIM
Related Genes
