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Summary Literature (0)
DOID:0060356 - Vici syndrome

Disease Ontology 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.

Synonyms: immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum

Xenbase Genes : epg5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009452 - Vici syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)