|
General Information
|
| Term |
mitochondrial DNA depletion syndrome 8a |
ID (Ontology) |
DOID:0080127 (Human Disease) |
| 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. |
| Also Known As |
"RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
mitochondrial DNA depletion syndrome 8a | 1 | for disease ribbon | mitochondrial DNA depletion syndrome 8a | 1 | model of | mitochondrial DNA depletion syndrome 8a | 1 |
|
Relationships