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Metadata
ID DOID:0112111
Name combined oxidative phosphorylation deficiency 50
Definition A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.
https://pubmed.ncbi.nlm.nih.gov/31039582/
Xrefs

OMIM:619025

Synonyms

COXPD50 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

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