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Ontology Browser

congenital disorder of glycosylation type I (DOID:0050570)
Annotations: Rat: (59) Mouse: (60) Human: (68) Chinchilla: (58) Bonobo: (60) Dog: (58) Squirrel: (59) Pig: (58)
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 
Gillessen-Kaesbach-Nishimura Dysplasia  
Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities 

Exact Synonyms: Congenital Disorder of Glycosylation Type 1
Primary IDs: RDO:9001280
Definition Sources:,

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