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Disease Ontology Browser
congenital disorder of glycosylation Id (DOID:0080556)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1d
Alt IDs: OMIM:601110, ORDO:79321
Definition: A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.

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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12/10/2024
MGI 6.24 		The Jackson Laboratory