Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
congenital disorder of glycosylation type II (DOID:0050571)
Annotations: Rat: (48) Mouse: (48) Human: (50) Chinchilla: (48) Bonobo: (46) Dog: (47) Squirrel: (48) Pig: (48)
Parent Terms Term With Siblings Child Terms
congenital disorder of glycosylation type I +   
congenital disorder of glycosylation type II +   
A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)
Congenital Disorder of Glycosylation with Defective Fucosylation +   
Congenital Disorder of Glycosylation, Type I/IIx 
Gillessen-Kaesbach-Nishimura Dysplasia  
NGLY1-deficiency  
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 

Synonyms
Exact Synonyms: congenital disorder of glycosylation type 2
Xrefs: OMIM:PS212066
Definition Sources: http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO"

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.