Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620145
http://purl.bioontology.org/ontology/OMIM/620145
Preferred Name

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
Synonyms
DEE109
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DEE109
prefLabel
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
Gene Symbol
FZR1
DEE109
KIAA1242
HCDH1
Scope Statement
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the fizzy and cell division cycle 20-related protein 1 gene (FZR1, 603619.0001) [MOLECULAR BASIS]
De novo mutation [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU076372
http://purl.bioontology.org/ontology/OMIM/MTHU075741
http://purl.bioontology.org/ontology/OMIM/MTHU057830
http://purl.bioontology.org/ontology/OMIM/MTHU062819
http://purl.bioontology.org/ontology/OMIM/MTHU008495
http://purl.bioontology.org/ontology/OMIM/MTHU033932
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU030536
http://purl.bioontology.org/ontology/OMIM/MTHU071555
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU000554
http://purl.bioontology.org/ontology/OMIM/MTHU000394
http://purl.bioontology.org/ontology/OMIM/MTHU028611
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU066377
http://purl.bioontology.org/ontology/OMIM/MTHU037031
http://purl.bioontology.org/ontology/OMIM/MTHU059973
http://purl.bioontology.org/ontology/OMIM/MTHU004222
http://purl.bioontology.org/ontology/OMIM/MTHU036372
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tui
T047
Gene Locus
19p13.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620145
Semantic type UMLS property
Has inheritance type
cui
C5774263
OMIM Entry Type
3
OMIM MimType Value
pound
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