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Ontology Browser

Term:
congenital disorder of glycosylation type I (DOID:0050570)
Annotations: Rat: (74) Mouse: (75) Human: (98) Chinchilla: (73) Bonobo: (76) Dog: (74) Squirrel: (74) Pig: (73)
Parent Terms Term With Siblings Child Terms
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
Primary IDs: RDO:9001280
Definition Sources: http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO", https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"

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