mitochondrial DNA depletion syndrome 8a

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: rrm2b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

MONDO:0012792 - mitochondrial DNA depletion syndrome 8a

MIM:

MIM:612075 - MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A

MIM:612075 - MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A

Other Model Organisms: Alliance, 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)