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Summary Literature (0)
DOID:0080127 - mitochondrial DNA depletion syndrome 8a

Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22.

Synonyms: RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy,

Xenbase Genes : rrm2b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012792 - mitochondrial DNA depletion syndrome 8a


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)