Metadata | |
---|---|
ID | DOID:0111472 |
Name | combined oxidative phosphorylation deficiency 9 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/21786366 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
COXPD9 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |