OBO ID: DOID:0060728
Term Name: NGLY1-deficiency Search Ontology:
Synonyms:
  • congenital disorder of deglycosylation
  • congenital disorder of glycosylation type Iv
  • deficiency of N-glycanase 1
  • NGLY1-CDDG
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 1p24. (2)
References:
Ontology: Human Disease   (DOID:0060728)
OTHER NGLY1-deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NGLY1 Congenital disorder of deglycosylation 1 615273
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None