OBO ID: DOID:0060356
Term Name: Vici syndrome Search Ontology:
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)
OTHER Vici syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EPG5 Vici syndrome 242840
ZEBRAFISH MODELS
Fish Conditions Citations
epg5ia31/ia31 standard conditions Meneghetti et al., 2019
PHENOTYPE No data available

CITATIONS (1)