| Metadata | |
|---|---|
| ID | DOID:0070464 |
| Name | mitochondrial complex V (ATP synthase) deficiency nuclear type 7 |
| Definition | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. https://pubmed.ncbi.nlm.nih.gov/35621276/, https://pubmed.ncbi.nlm.nih.gov/34954817/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620359 |
| Synonyms |
MC5DN7 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |