| Metadata | |
|---|---|
| ID | DOID:0111497 |
| Name | combined oxidative phosphorylation deficiency 34 |
| Definition | A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. https://www.ncbi.nlm.nih.gov/pubmed/25556185 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD34 [EXACT] syndromic sensorineural deafness due to combined oxidative phosphorylation defect [EXACT] syndromic sensorineural deafness due to COXPD [EXACT] syndromic sensorineural hearing loss due to COXPD [EXACT] |
| Parent Relationships |