Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/604121
http://purl.bioontology.org/ontology/OMIM/604121
Preferred Name

CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
Synonyms
ADCADN
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ADCADN
prefLabel
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
Gene Symbol
HSN1E
MCMT
ADCADN
DNMT1
Scope Statement
Narcolepsy and deafness are the first symptoms [MISCELLANEOUS]
Caused by mutation in the DNA methyltransferase 1 gene (DNMT1, 126375.0003) [MOLECULAR BASIS]
Adult onset (thirties to forties) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU042628
http://purl.bioontology.org/ontology/OMIM/MTHU036650
http://purl.bioontology.org/ontology/OMIM/MTHU000535
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU000926
http://purl.bioontology.org/ontology/OMIM/MTHU039740
http://purl.bioontology.org/ontology/OMIM/MTHU002910
http://purl.bioontology.org/ontology/OMIM/MTHU013494
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU042631
http://purl.bioontology.org/ontology/OMIM/MTHU001402
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU000152
http://purl.bioontology.org/ontology/OMIM/MTHU068401
http://purl.bioontology.org/ontology/OMIM/MTHU042629
http://purl.bioontology.org/ontology/OMIM/MTHU000940
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tui
T047
Gene Locus
19p13.3-p13.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
604121
Semantic type UMLS property
Has inheritance type
cui
C4302668
OMIM Entry Type
3
OMIM MimType Value
pound
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