| Metadata | |
|---|---|
| ID | DOID:0111476 |
| Name | combined oxidative phosphorylation deficiency 19 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. https://www.ncbi.nlm.nih.gov/pubmed/23814038 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD19 [EXACT] severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |