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DOID:0060728 - NGLY1-deficiency
Disease Ontology 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.
Synonyms: NGLY1-CDDG, congenital disorder of deglycosylation, congenital disorder of glycosylation type Iv, deficiency of N-glycanase 1,
Xenbase Genes : ngly1
MONDO:0014109 - obsolete NGLY1-deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee