OBO ID: DOID:0070258
Term Name: congenital disorder of glycosylation type IIf Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIf
  • CDG IIf
  • CDG2F
  • CDGIIdf
  • CMP-sialic acid transporter deficiency
  • SLC35A1-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15. https://www.ncbi.nlm.nih.gov/pubmed/11157507
References:
Ontology: Human Disease   (DOID:0070258)
OTHER congenital disorder of glycosylation type IIf PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC35A1 Congenital disorder of glycosylation, type IIf 603585
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None