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Echinobase
Summary Literature (0)
DOID:0060356 - Vici syndrome

Disease Ontology 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.

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

Echinobase Genes : epg5


OMIM:
MIM:242840 - vici syndrome; vicis

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

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