OBO ID: DOID:0070266
Term Name: congenital disorder of glycosylation type IIn Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIn
  • CDG IIn
  • CDG syndrome type IIn
  • CDG2N
  • CDGIIdn
  • Congenital disorder of glycosylation type 2n
  • SLC39A8-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24. https://www.ncbi.nlm.nih.gov/pubmed/26637978
References:
Ontology: Human Disease   (DOID:0070266)
OTHER congenital disorder of glycosylation type IIn PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC39A8 Congenital disorder of glycosylation, type IIn 616721
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None