combined oxidative phosphorylation deficiency 46

Term ID

DOID:0112115

Synonyms

COXPD46

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/26741492/

References

MIM:618952

Ontology

Human Disease ( DOID:0112115 )

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