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 1 - 10 of 71 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0012444 Brain atrophy
HP:0001167 Abnormal finger morphology
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0000278 Retrognathia
HP:0001999 Abnormal facial shape
HP:0011451 Primary microcephaly
HP:0001265 Hyporeflexia
HP:0000160 Narrow mouth
HP:0001627 Abnormal heart morphology
Displaying 1 entry
Gene ID Gene Symbol Description
91949 COG7 component of oligomeric golgi complex 7

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024