autosomal dominant cerebellar ataxia, deafness and narcolepsy

Summary

DOID:0050968 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dnmt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

MONDO:0011397 - autosomal dominant cerebellar ataxia, deafness and narcolepsy

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant cerebellar ataxia (is_a)