Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618426
http://purl.bioontology.org/ontology/OMIM/618426
Preferred Name

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
Synonyms
IIAE9
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
IIAE9
prefLabel
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
Gene Symbol
CAN
NUP214
IIAE9
D9S46E
CAIN
Scope Statement
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the nucleoporin, 214-kd gene (NUP214, 114350.0001) [MOLECULAR BASIS]
Neurodegeneration triggered by febrile illness [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU064664
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU064735
http://purl.bioontology.org/ontology/OMIM/MTHU024399
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU002543
http://purl.bioontology.org/ontology/OMIM/MTHU061251
http://purl.bioontology.org/ontology/OMIM/MTHU000164
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU001330
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU037370
http://purl.bioontology.org/ontology/OMIM/MTHU040091
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tui
T033
Gene Locus
9q34.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618426
Semantic type UMLS property
Has inheritance type
cui
C5193089
OMIM Entry Type
3
OMIM MimType Value
pound
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