| Metadata | |
|---|---|
| ID | DOID:0070750 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070750 Copy |
| Name | mitochondrial myopathy and ataxia |
| Definition | A mitochondrial DNA depletion syndrome characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MSTO1 gene on chromosome 1q22. https://pubmed.ncbi.nlm.nih.gov/31463572/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1237514002 |
| SKOS |
exactMatch ORDO:502423 exactMatch MIM:617675 exactMatch UMLS_CUI:C4540096 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has phenotype some Mitochondrial depletion |