ZFIN Human Disease: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

OBO ID: DOID:0111525

Term Name:	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4		Search Ontology:
Synonyms:	autosomal dominant progressive external ophthalmoplegia 4 PEOA4
Definition:	A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. https://www.ncbi.nlm.nih.gov/pubmed/16685652
References:	OMIM:610131
Ontology:	Human Disease ( DOID:0111525 )

Relationships

is a type of:	autosomal dominant disease chronic progressive external ophthalmoplegia autosomal dominant disease chronic progressive external ophthalmoplegia Show first 5 Terms

OTHER autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POLG2	polg2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	610131

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None