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Metadata
ID DOID:0060356
Name Vici syndrome
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.
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

SNOMEDCT_US_2020_03_01:719824001

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 syndrome

is_a autosomal recessive disease

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