combined oxidative phosphorylation deficiency 49

Term ID

DOID:0112110

Synonyms

COXPD49

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/29361167/

References

MIM:619024

Ontology

Human Disease ( DOID:0112110 )

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