Terminology Service for NFDI4Health
Vici syndrome
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http://purl.obolibrary.org/obo/DOID_0060356
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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Vici syndrome
Synonyms
- immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Subsets
DO_rare_slim, NCIthesaurus
created by
elvira
creation date
2015-08-19T16:22:27Z
has obo namespace
disease_ontology
id
DOID:0060356