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Ontology Browser
Term:
congenital disorder of deglycosylation 1 (EFO:MONDO:0800044)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
congenital disorder of deglycosylation 1 
A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
congenital disorder of deglycosylation 2 
disorder of carbohydrate transmembrane transport and absorption +  
disorder of fructose metabolism +  
disorder of galactose and fructose metabolism +  
disorder of galactose metabolism +  
disorder of gluconeogenesis +  
disorder of glycogen metabolism +  
disorder of glycolysis +  
disorder of protein N-glycosylation +  
disorder of protein O-glycosylation +  
disorders of pentose/polyol metabolism +  
glucosephosphate dehydrogenase deficiency 
hyperinsulinemic hypoglycemia +  
lactose intolerance +  
mucopolysaccharidosis +  
multiple carboxylase deficiency +  
oligosaccharidosis +  
primary hyperoxaluria +  
pyruvate dehydrogenase deficiency +  

Synonyms
Exact Synonyms: CDG1V ;   NGLY1 deficiency ;   NGLY1-CDDG ;   deficiency of N-glycanase 1
Broad Synonyms: CDDG ;   congenital disorder of deglycosylation ;   congenital disorder of deglycosylation;CDDG
Related Synonyms: CDG IV ;   CDG IV, formerly ;   alacrimia - choreoathetosis - liver dysfunction syndrome ;   congenital disorder of glycosylation, type IV ;   congenital disorder of glycosylation, type IV, formerly
Alternate IDs: MONDO:0800044
Xrefs: DOID:0060728 ;   GARD:12315 ;   MIM:615273 ;   NCI:C126746 ;   NORD:1919 ;   ORDO:404454 ;   SCTID:768846004
Definition Sources: NCIT:C126746

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