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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
MIM:242840 - vici syndrome; vicis |
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)