Search Ontology:
Human Disease

congenital disorder of deglycosylation 1

Term ID
DOID:0060728
Synonyms
  • congenital disorder of glycosylation type Iv
  • deficiency of N-glycanase 1
  • NGLY1-CDDG
  • NGLY1-deficiency
Definition
A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. (2)
References
Ontology
Human Disease   ( DOID:0060728 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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