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DO Term : autosomal dominant cerebellar ataxia, deafness and narcolepsy [DOID:0050968] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
GARD:12372,
604121,
OMIM:604121

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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