combined oxidative phosphorylation deficiency 50

Term ID

DOID:0112111

Synonyms

COXPD50

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/

References

OMIM:619025

Ontology

Human Disease ( DOID:0112111 )

Relationships

is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency

autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations