Search Ontology:
Human Disease

Vici syndrome

Term ID
DOID:0060356
Synonyms
  • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
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. (3)
References
Ontology
Human Disease   ( DOID:0060356 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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