ZFIN Human Disease: mitochondrial DNA depletion syndrome 4b

OBO ID: DOID:0080123

Term Name:	mitochondrial DNA depletion syndrome 4b		Search Ontology:
Synonyms:
Definition:	A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (4)
References:	OMIM:613662 ORDO:298
Ontology:	Human Disease ( DOID:0080123 )

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 4b PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POLG	polg	Mitochondrial DNA depletion syndrome 4B (MNGIE type)	613662

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None