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Human Disease

autosomal dominant cerebellar ataxia, deafness and narcolepsy

Term ID
DOID:0050968
Synonyms
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy
References
Ontology
Human Disease   ( DOID:0050968 )
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