OBO ID: DOID:0070255
Term Name: congenital disorder of glycosylation type IIc Search Ontology:
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 SLC35C1 on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/10590041
References:
Ontology: Human Disease   (DOID:0070255)
OTHER congenital disorder of glycosylation type IIc PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC35C1 Congenital disorder of glycosylation, type IIc 266265
ZEBRAFISH MODELS
Fish Conditions Citations
gmdsp31erb/p31erb standard conditions Song et al., 2010
PHENOTYPE No data available

CITATIONS (1)