FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Vici syndrome ID (Ontology) DOID:0060356 (Human Disease)
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.
Also Known As "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Vici syndrome       5      2      1
 ameliorates | Vici syndrome       1       --       --
 for disease ribbon | Vici syndrome       --       1       --
 model of | Vici syndrome       4      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Vici syndrome  8 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:448
MESH:C535566
MIM:242840
NCI:C138174
ORDO:1493
SNOMEDCT_US_2023_03_01:719824001
UMLS_CUI:C1855772