Search Ontology:
Human Disease
mitochondrial DNA depletion syndrome 8a
- Term ID
- DOID:0080127
- Synonyms
-
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- 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. (4)
- References
-
- GARD:13200
- MESH:C536350
- MIM:612075
- Ontology
- Human Disease ( DOID:0080127 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models