Search Ontology:
Human Disease

congenital disorder of glycosylation Iaa

Term ID
DOID:0080553
Synonyms
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/25066056
References
Ontology
Human Disease   ( DOID:0080553 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models