ZFIN Human Disease: autosomal recessive progressive external ophthalmoplegia 1

OBO ID: DOID:0111522

Term Name:	autosomal recessive progressive external ophthalmoplegia 1		Search Ontology:
Synonyms:	PEOB1
Definition:	A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. https://www.ncbi.nlm.nih.gov/pubmed/11431686
References:	OMIM:258450
Ontology:	Human Disease ( DOID:0111522 )

Relationships

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

OTHER autosomal recessive progressive external ophthalmoplegia 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POLG	polg	Progressive external ophthalmoplegia, autosomal recessive 1	258450

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None