congenital disorder of glycosylation type IIo

Summary
Synonym
  • CCDC115-CDG
  • CDG IIo
  • CDG syndrome type IIo
  • CDG2O
  • CDGIIdo
  • Carbohydrate deficient glycoprotein syndrome type IIo
  • Congenital disorder of glycosylation type 2o
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070267
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84317 CCDC115 coiled-coil domain containing 115
The Human Phenotype Ontology
Displaying entries 11 - 20 of 24 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0002611 Cholestatic liver disease
HP:0000007 Autosomal recessive inheritance
HP:0003141 Increased LDL cholesterol concentration
HP:0001399 Hepatic failure
HP:0006579 Prolonged neonatal jaundice
HP:0001250 Seizure
HP:0002240 Hepatomegaly
HP:0010837 Decreased circulating ceruloplasmin concentration
HP:0001290 Generalized hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
84317 CCDC115 coiled-coil domain containing 115

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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