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Standards Ontologies Notations
congenital disorder of glycosylation Ii

Summary
Synonym
  • congenital disorder of glycosylation 1i
Definition
A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
Disease Ontology
DOID:0080561
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
56737 Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
313231 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
38374 Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
403068 alg2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
446622 alg2.L ALG2, alpha-1,3/1,6-mannosyltransferase L homeolog Xenopus laevis (African clawed frog)
595052 alg2 ALG2, alpha-1,3/1,6-mannosyltransferase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
173912 algn-2 Alpha-1,3/1,6-mannosyltransferase ALG2
Displaying 1 entry
Gene ID Gene Symbol Description Source
852815 ALG2 GDP-Man:Man(1)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase
The Human Phenotype Ontology
Displaying entries 41 - 50 of 56 in total
HPO ID HPO Term
HP:0001929 Reduced factor XI activity
HP:0002014 Diarrhea
HP:0002020 Gastroesophageal reflux
HP:0002119 Ventriculomegaly
HP:0002188 Delayed CNS myelination
HP:0003186 Inverted nipples
HP:0003593 Infantile onset
HP:0003645 Prolonged partial thromboplastin time
HP:0004322 Short stature
HP:0004325 Decreased body weight
Displaying 1 entry
Gene ID Gene Symbol Description
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
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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

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Last updated: December 9, 2024