OBO ID: DOID:0070260
Term Name: congenital disorder of glycosylation type IIh Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIh
  • CDG IIh
  • CDG2H
  • CDGIIdh
  • COG8-CDG
  • Congenital disorder of glycosylation type 2h
Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1. https://www.ncbi.nlm.nih.gov/pubmed/17220172
References:
Ontology: Human Disease   (DOID:0070260)
OTHER congenital disorder of glycosylation type IIh PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COG8 Congenital disorder of glycosylation, type IIh 611182
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None