congenital disorder of deglycosylation 1

Summary

DOID:0060728 - congenital disorder of deglycosylation 1

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 3p24.

Synonyms: congenital disorder of deglycosylation, congenital disorder of glycosylation type Iv, deficiency of N-glycanase 1, NGLY1-CDDG, NGLY1-deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ngly1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014109 - obsolete NGLY1-deficiency

MONDO:0014109 - obsolete NGLY1-deficiency

MIM:

MIM:615273 - CONGENITAL DISORDER OF DEGLYCOSYLATION 1; CDDG1

MIM:615273 - CONGENITAL DISORDER OF DEGLYCOSYLATION 1; CDDG1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), carbohydrate metabolic disorder (is_a), congenital disorder of deglycosylation (is_a)