ZFIN Human Disease: autosomal dominant cerebellar ataxia, deafness and narcolepsy

OBO ID: DOID:0050968

Term Name:	autosomal dominant cerebellar ataxia, deafness and narcolepsy		Search Ontology:
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:	GARD:12372 OMIM:604121
Ontology:	Human Disease ( DOID:0050968 )

Relationships

is a type of:	autosomal dominant cerebellar ataxia autosomal dominant cerebellar ataxia Show first 5 Terms

OTHER autosomal dominant cerebellar ataxia, deafness and narcolepsy PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DNMT1	dnmt1	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	604121

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None