Term Name: | combined oxidative phosphorylation deficiency 19 |
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Synonyms: | COXPD19, severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency |
Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. |
Ontology: | Human Disease [DOID:0111476] ( DOID:0111476 ) |