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Disease Ontology Browser
Vici syndrome (DOID:0060356)
Alliance: disease page
Synonyms: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Alt IDs: OMIM:242840, MESH:C535566, NCI:C138174, ORDO:1493, UMLS_CUI:C1855772
Definition: A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory