loading...| Preferred Name |
mitochondrial DNA depletion syndrome 17 |
| Definitions |
A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. |
| ID |
http://purl.obolibrary.org/obo/DOID_0070448 |
| database_cross_reference |
OMIM:618567 |
| definition |
A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. |
| has exact match |
OMIM:618567 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0070448 |
| label |
mitochondrial DNA depletion syndrome 17 |
| notation |
DOID:0070448 |
| prefLabel |
mitochondrial DNA depletion syndrome 17 |
| subClassOf |