Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/618113 http://purl.bioontology.org/ontology/OMIM/618113
Preferred Name	ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
Synonyms	MERS ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE SPLENIAL LESION MMERV
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MERS ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE SPLENIAL LESION MMERV
prefLabel	ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
Gene Symbol	C11orf9 KIAA0954 CUGS MMERV MYRF
notation	618113
Scope Statement	No permanent neurologic sequelae [MISCELLANEOUS] Two unrelated Japanese families have been reported (last curated September 2018) [MISCELLANEOUS] Brain imaging abnormalities are transient and return to normal [MISCELLANEOUS] Affected individuals have complete neurologic recovery within days to weeks [MISCELLANEOUS] Caused by mutation in the myelin regulatory factor gene (MYRF, 608329.0001) [MOLECULAR BASIS] Episodes may be triggered by fever, infection, stress [MISCELLANEOUS] Onset in childhood [MISCELLANEOUS] See more See less
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU062428 http://purl.bioontology.org/ontology/OMIM/MTHU062430 http://purl.bioontology.org/ontology/OMIM/MTHU062429 http://purl.bioontology.org/ontology/OMIM/MTHU046899 http://purl.bioontology.org/ontology/OMIM/MTHU062427 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	11q12.2
tui	T047
cui	C4722446

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