mitochondrial DNA depletion syndrome 4b

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Information
Disease name
mitochondrial DNA depletion syndrome 4b
Disease ID
DOID:0080123
Description
"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." [url:https\://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30385167, url:https\://www.ncbi.nlm.nih.gov/pubmed/30395865, url:https\://www.omim.org/entry/613662]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:0070329
Cross Reference ID (Disease Ontology)
MIM:613662
Cross Reference ID (Disease Ontology)
ORDO:298
Exact Synonym (Disease Ontology)
mitochondrial neurogastrointestinal encephalopathy syndrome