congenital disorder of glycosylation type IIg

Summary
Synonym
  • CDG IIg
  • CDG2G
  • CDGII/COG1 cerebrocostomandibular-like syndrome
  • CDGIIg
  • Carbohydrate deficient glycoprotein syndrome type IIg
Definition
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070259
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9382 COG1 component of oligomeric golgi complex 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 89 in total
HPO ID HPO Term
HP:0000160 Narrow mouth
HP:0000201 Pierre-Robin sequence
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000253 Progressive microcephaly
HP:0000316 Hypertelorism
HP:0000319 Smooth philtrum
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000368 Low-set, posteriorly rotated ears
Displaying 1 entry
Gene ID Gene Symbol Description
9382 COG1 component of oligomeric golgi complex 1

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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