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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

OMIM:615595

ORDO:397593

Subsets

DO_rare_slim

Synonyms

COXPD19 [EXACT]

severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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