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Ontology Browser

Term:
Congenital Disorder of Glycosylation with Defective Fucosylation (DOID:9001022)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
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 +   
Congenital Disorder of Glycosylation with Defective Fucosylation +   
An autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability.
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: CDGF
Xrefs: OMIM:PS618005

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