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 11 - 20 of 71 in total
HPO ID HPO Term
HP:0007392 Excessive wrinkled skin
HP:0001250 Seizure
HP:0012157 Subcortical cerebral atrophy
HP:0001284 Areflexia
HP:0000470 Short neck
HP:0002240 Hepatomegaly
HP:0000077 Abnormality of the kidney
HP:0001954 Recurrent fever
HP:0000253 Progressive microcephaly
HP:0008897 Postnatal growth retardation
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