1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070504 | mitochondrial complex IV deficiency nuclear type 19 | A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |