About   Help   FAQ
Disease Ontology Browser
mitochondrial DNA depletion syndrome 4b (DOID:0080123)
Alliance: disease page
Synonyms: mitochondrial neurogastrointestinal encephalopathy syndrome
Alt IDs: OMIM:613662, ORDO:298
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
02/20/2024
MGI 6.23
The Jackson Laboratory