| Metadata | |
|---|---|
| ID | DOID:0112118 |
| Name | combined oxidative phosphorylation deficiency 42 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/30283131/ |
| Xrefs | |
| Synonyms |
COXPD42 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |