ZFIN Human Disease: spinocerebellar ataxia type 5

OBO ID: DOID:0050882

Term Name:	spinocerebellar ataxia type 5		Search Ontology:
Synonyms:
Definition:	An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (2)
References:	GARD:4953 OMIM:600224
Ontology:	Human Disease ( DOID:0050882 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SPTBN2	sptbn2	Spinocerebellar ataxia 5	600224

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None