combined oxidative phosphorylation deficiency 48

Term ID

DOID:0112112

Synonyms

COXPD48

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. https://pubmed.ncbi.nlm.nih.gov/27356879/

References

OMIM:619012

Ontology

Human Disease ( DOID:0112112 )

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