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:
Ontology: Human Disease   (DOID:0080123)
OTHER mitochondrial DNA depletion syndrome 4b PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLG Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None