ZFIN Human Disease: mitochondrial DNA depletion syndrome 2

OBO ID: DOID:0080120

Term Name:	mitochondrial DNA depletion syndrome 2		Search Ontology:
Synonyms:	TK2-related mitochondrial DNA depletion syndrome, myopathic form
Definition:	A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (4)
References:	MESH:C563698 OMIM:609560 ORDO:254875
Ontology:	Human Disease ( DOID:0080120 )

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 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TK2	tk2	Mitochondrial DNA depletion syndrome 2 (myopathic type)	609560

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None