congenital disorder of glycosylation type IIl

Summary
Synonym
  • CDG IIl
  • CDG syndrome type IIL
  • CDG2L
  • CDGIIdl
  • COG6-CGD
  • Congenital disorder of glycosylation type 2l
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070264
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57511 COG6 component of oligomeric golgi complex 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
855687 COG6 Golgi transport complex subunit COG6
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 49 in total
HPO ID HPO Term
HP:0000966 Hypohidrosis
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001263 Global developmental delay
HP:0001272 Cerebellar atrophy
HP:0001290 Generalized hypotonia
HP:0001385 Hip dysplasia
HP:0001394 Cirrhosis
HP:0001396 Cholestasis
HP:0001508 Failure to thrive
Displaying 1 entry
Gene ID Gene Symbol Description
57511 COG6 component of oligomeric golgi complex 6

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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