combined oxidative phosphorylation deficiency 42

Term ID

DOID:0112118

Synonyms

COXPD42

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. https://pubmed.ncbi.nlm.nih.gov/30283131/

References

MIM:618839

Ontology

Human Disease ( DOID:0112118 )

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