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General Information
ZIRC
OBO ID: DOID:0080553
Term Name: congenital disorder of glycosylation Iaa Search Ontology:
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)
OTHER congenital disorder of glycosylation Iaa PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NUS1 ?Congenital disorder of glycosylation, type 1aa 617082
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None