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Disease Ontology Browser
NGLY1-deficiency (DOID:0060728)
Alliance: disease page
Synonyms: congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; deficiency of N-glycanase 1; NGLY1-CDDG
Alt IDs: OMIM:615273, ICD10CM:E77.8, 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 1p24.


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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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory