congenital disorder of glycosylation type IIq

Summary
Synonym
  • CDG IIq
  • CDG2Q
  • CDGIIdq
  • COG2-CDG
  • COG2-related congenital disorder of glycosylation
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070269
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22796 COG2 component of oligomeric golgi complex 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 19 in total
HPO ID HPO Term
HP:0003256 Abnormality of the coagulation cascade
HP:0002079 Hypoplasia of the corpus callosum
HP:0011967 Decreased circulating copper concentration
HP:0001410 Decreased liver function
HP:0010818 Generalized tonic seizure
HP:0002506 Diffuse cerebral atrophy
HP:0001249 Intellectual disability
HP:0002510 Spastic tetraplegia
HP:0010837 Decreased circulating ceruloplasmin concentration
HP:0001999 Abnormal facial shape
Displaying 1 entry
Gene ID Gene Symbol Description
22796 COG2 component of oligomeric golgi complex 2

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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