ZFIN Human Disease: Vici syndrome

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:	GARD:448 MESH:C535566 NCI:C138174 OMIM:242840 ORDO:1493 SNOMEDCT_US_2023_03_01:719824001 UMLS_CUI:C1855772
Ontology:	Human Disease ( DOID:0060356 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Vici syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EPG5	epg5	Vici syndrome	242840

ZEBRAFISH MODELS

Fish	Conditions	Citations
epg5^ia31/ia31	standard conditions	Meneghetti et al., 2019

PHENOTYPE No data available

CITATIONS (1)