OBO ID: DOID:0070267
Term Name: congenital disorder of glycosylation type IIo Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIo
  • CCDC115-CDG
  • CDG IIo
  • CDG syndrome type IIo
  • CDG2O
  • CDGIIdo
  • Congenital disorder of glycosylation type 2o
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1. https://www.ncbi.nlm.nih.gov/pubmed/26833332
References:
Ontology: Human Disease   (DOID:0070267)
OTHER congenital disorder of glycosylation type IIo PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CCDC115 Congenital disorder of glycosylation, type IIo 616828
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None