congenital disorder of glycosylation type IIi

Summary
Synonym
  • CDG IIi
  • CDG syndrome type IIi
  • CDG2I
  • CDGIIdi
  • COG5-CDG
  • Carbohydrate deficient glycoprotein syndrome type IIi
  • Congenital disorder of glycosylation type 2i
Definition
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070261
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10466 COG5 component of oligomeric golgi complex 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
855676 COG5 Golgi transport complex subunit COG5
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 51 in total
HPO ID HPO Term
HP:0001272 Cerebellar atrophy
HP:0001348 Brisk reflexes
HP:0001433 Hepatosplenomegaly
HP:0001511 Intrauterine growth retardation
HP:0001562 Oligohydramnios
HP:0002078 Truncal ataxia
HP:0002240 Hepatomegaly
HP:0002342 Intellectual disability, moderate
HP:0002506 Diffuse cerebral atrophy
HP:0002857 Genu valgum
Displaying 1 entry
Gene ID Gene Symbol Description
10466 COG5 component of oligomeric golgi complex 5

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024