Search Ontology:
Human Disease

congenital disorder of glycosylation type IIc

Term ID
DOID:0070255
Synonyms
  • CDG IIc
  • CDG2C
  • CDGIIc
  • Rambam-Hasharon syndrome
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/10590041
References
Ontology
Human Disease   ( DOID:0070255 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models