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Metadata
ID DOID:0060356
Name Vici syndrome
Definition An autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3.
https://en.wikipedia.org/wiki/Vici_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/21965116, https://www.ncbi.nlm.nih.gov/pubmed/23222957
Xrefs

GARD:448

MESH:C535566

NCI:C138174

OMIM:242840

ORDO:1493

UMLS_CUI:C1855772

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [EXACT]

Parent Relationships

is_a autosomal recessive disease

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