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 11 - 19 of 19 in total
HPO ID HPO Term
HP:0012506 Small pituitary gland
HP:0002361 Psychomotor deterioration
HP:0005484 Secondary microcephaly
HP:0003593 Infantile onset
HP:0001252 Hypotonia
HP:0000007 Autosomal recessive inheritance
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001263 Global developmental delay
HP:0012345 Abnormal glycosylation
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