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

OBO ID: DOID:0111516

Term Name:	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4		Search Ontology:
Synonyms:	adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency autosomal recessive progressive external ophthalmoplegia 4 PEOB4
Definition:	A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. https://www.ncbi.nlm.nih.gov/pubmed/23043144
References:	OMIM:617070 ORDO:329314
Ontology:	Human Disease ( DOID:0111516 )

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 with mitochondrial DNA deletions 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DGUOK	dguok	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None