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Ontology Browser

Term:
congenital disorder of glycosylation type II (DOID:0050571)
Annotations: Rat: (106) Mouse: (106) Human: (127) Chinchilla: (101) Bonobo: (101) Dog: (105) Squirrel: (102) Pig: (104)
Parent Terms Term With Siblings Child Terms
alacrima, achalasia, and impaired intellectual development syndrome  
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 
developmental and epileptic encephalopathy 50  
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" "DO"

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