congenital disorder of glycosylation type IIe

Summary
Synonym
  • CDG IIe
  • CDG syndrome type IIe
  • CDG2E
  • CDGIIde
  • COG7-CDG
  • Carbohydrate deficient glycoprotein syndrome type IIe
Definition
A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070257
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
91949 COG7 component of oligomeric golgi complex 7
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 51 - 60 of 71 in total
HPO ID HPO Term
HP:0001684 Secundum atrial septal defect
HP:0001744 Splenomegaly
HP:0001943 Hypoglycemia
HP:0002020 Gastroesophageal reflux
HP:0002059 Cerebral atrophy
HP:0002079 Hypoplasia of the corpus callosum
HP:0002093 Respiratory insufficiency
HP:0003186 Inverted nipples
HP:0003196 Short nose
HP:0003202 Skeletal muscle atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
91949 COG7 component of oligomeric golgi complex 7

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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