combined oxidative phosphorylation deficiency 45

Term ID

DOID:0112113

Synonyms

COXPD45

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/23603806/

References

OMIM:618951

Ontology

Human Disease ( DOID:0112113 )

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