Search Ontology:
Human Disease

congenital disorder of glycosylation type IIf

Term ID
DOID:0070258
Synonyms
  • Carbohydrate deficient glycoprotein syndrome type IIf
  • CDG IIf
  • CDG2F
  • CDGIIf
  • 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 the SLC35A1 gene on chromosome 6q15. https://www.ncbi.nlm.nih.gov/pubmed/11157507
References
Ontology
Human Disease   ( DOID:0070258 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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