Online Mendelian Inheritance in Man - VICI SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/242840 http://purl.bioontology.org/ontology/OMIM/242840
Preferred Name	VICI SYNDROME
Synonyms	VICIS IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VICIS IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
prefLabel	VICI SYNDROME
Gene Symbol	HEEW1 KIAA1632 VICIS EPG5
Scope Statement	Onset at birth [MISCELLANEOUS] Early death often occurs from cardiac failure or infection [MISCELLANEOUS] Immunologic defects are variable [MISCELLANEOUS] Caused by mutation in the ectopic P-granules autophagy protein 5 homolog gene (EPG5, 615068.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU032157 http://purl.bioontology.org/ontology/OMIM/MTHU012151 http://purl.bioontology.org/ontology/OMIM/MTHU012140 http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU003653 http://purl.bioontology.org/ontology/OMIM/MTHU012153 http://purl.bioontology.org/ontology/OMIM/MTHU008324 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU024739 http://purl.bioontology.org/ontology/OMIM/MTHU003037 http://purl.bioontology.org/ontology/OMIM/MTHU012152 http://purl.bioontology.org/ontology/OMIM/MTHU032158 http://purl.bioontology.org/ontology/OMIM/MTHU000566 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU011379 http://purl.bioontology.org/ontology/OMIM/MTHU000619 http://purl.bioontology.org/ontology/OMIM/MTHU019869 http://purl.bioontology.org/ontology/OMIM/MTHU012138 http://purl.bioontology.org/ontology/OMIM/MTHU012139 http://purl.bioontology.org/ontology/OMIM/MTHU037604 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU012148 http://purl.bioontology.org/ontology/OMIM/MTHU012144 http://purl.bioontology.org/ontology/OMIM/MTHU012149 http://purl.bioontology.org/ontology/OMIM/MTHU037236 http://purl.bioontology.org/ontology/OMIM/MTHU006717 http://purl.bioontology.org/ontology/OMIM/MTHU012146 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU032161 http://purl.bioontology.org/ontology/OMIM/MTHU012150 http://purl.bioontology.org/ontology/OMIM/MTHU011914 http://purl.bioontology.org/ontology/OMIM/MTHU007826 http://purl.bioontology.org/ontology/OMIM/MTHU012147 http://purl.bioontology.org/ontology/OMIM/MTHU032155 http://purl.bioontology.org/ontology/OMIM/MTHU037606 http://purl.bioontology.org/ontology/OMIM/MTHU012156 http://purl.bioontology.org/ontology/OMIM/MTHU032160 http://purl.bioontology.org/ontology/OMIM/MTHU001056 http://purl.bioontology.org/ontology/OMIM/MTHU000798 http://purl.bioontology.org/ontology/OMIM/MTHU032159 http://purl.bioontology.org/ontology/OMIM/MTHU037605 http://purl.bioontology.org/ontology/OMIM/MTHU012141 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	18q12.3-q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	242840
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1855772
OMIM Entry Type	3
OMIM MimType Value	pound

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