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Disease Ontology Browser
congenital disorder of glycosylation Iaa (DOID:0080553)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1aa
Alt IDs: OMIM:617082
Definition: A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.


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