ZFIN Human Disease: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

OBO ID: DOID:0111276

Term Name:	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		Search Ontology:
Synonyms:	autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions SANDO
Definition:	A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (3)
References:	MESH:C537583 OMIM:607459 ORDO:70595 SNOMEDCT_US_2023_03_01:717266001 UMLS_CUI:C1843851
Ontology:	Human Disease ( DOID:0111276 )

Relationships

is a type of:	autosomal recessive disease mitochondrial metabolism disease autosomal recessive disease mitochondrial metabolism disease Show first 5 Terms

OTHER sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POLG	polg	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)	607459

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None