ZFIN Human Disease: mitochondrial DNA depletion syndrome 11

OBO ID: DOID:0080129

Term Name:	mitochondrial DNA depletion syndrome 11		Search Ontology:
Synonyms:	progressive external ophthalmoplegia-myopathy-emaciation syndrome
Definition:	A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (3)
References:	OMIM:615084 ORDO:352447
Ontology:	Human Disease ( DOID:0080129 )

Relationships

is a type of:	autosomal recessive disease mitochondrial DNA depletion syndrome autosomal recessive disease mitochondrial DNA depletion syndrome Show first 5 Terms

OTHER mitochondrial DNA depletion syndrome 11 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MGME1	mgme1	Mitochondrial DNA depletion syndrome 11	615084

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None