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Ontology Browser

Term:
congenital disorder of glycosylation type I (DOID:0050570)
Annotations: Rat: (136) Mouse: (138) Human: (166) Chinchilla: (136) Bonobo: (140) Dog: (137) Squirrel: (136) Pig: (135)
Parent Terms Term With Siblings Child Terms
alacrima, achalasia, and impaired intellectual development syndrome  
congenital disorder of glycosylation type I +   
A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)
congenital disorder of glycosylation type II +   
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 1
Xrefs: OMIM:PS212065
Definition Sources: http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO" "DO", https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO" "DO"

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