combined oxidative phosphorylation deficiency 43

Term ID

DOID:0112116

Synonyms

COXPD43

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/30452684/

References

OMIM:618851

Ontology

Human Disease ( DOID:0112116 )

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