congenital disorder of glycosylation type II - Ontology Browser

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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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