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Disease Ontology Browser
Vici syndrome (DOID:0060356)
Synonyms: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Alt IDs: OMIM:242840, MESH:C535566, ORDO:1493, UMLS_CUI:C1855772
Definition: An autosomal recessive disease 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/11/2017
MGI 6.10
The Jackson Laboratory