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DOID:0060728 - NGLY1-deficiency
Disease Ontology Definition:A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production.
Synonyms: NGLY1-CDDG, congenital disorder of deglycosylation, congenital disorder of glycosylation type Iv, deficiency of N-glycanase 1,
Echinobase Genes : ngly1
MIM:615273 - congenital disorder of deglycosylation; cddg |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
carbohydrate metabolic disorder (is_a)