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Disease Ontology Browser
congenital disorder of deglycosylation 1 (DOID:0060728)
Alliance: disease page
Synonyms: congenital disorder of glycosylation type Iv; deficiency of N-glycanase 1; NGLY1-CDDG; NGLY1-deficiency
Alt IDs: OMIM:615273, ICD10CM:E77.8, MESH:C000626124, ORDO:404454
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory