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Disease Ontology Browser
congenital disorder of glycosylation Ii (DOID:0080561)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1i
Alt IDs: OMIM:607906, ORDO:79326
Definition: A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.

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