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congenital disorder of glycosylation Ir (DOID:0080569)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1r
Alt IDs: OMIM:614507, ORDO:300536
Definition: A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.


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
02/20/2024
MGI 6.23
The Jackson Laboratory