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DO Term : Vici syndrome [DOID:0060356] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
UMLS_CUI:C1855772,
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum,
242840,
ORDO:1493,
OMIM:242840,
NCI:C138174,
GARD:448,
SNOMEDCT_US_2023_03_01:719824001,
MESH:C535566

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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