combined oxidative phosphorylation deficiency 41

Term ID

DOID:0112119

Synonyms

COXPD41

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. https://pubmed.ncbi.nlm.nih.gov/30283131/

References

OMIM:618838

Ontology

Human Disease ( DOID:0112119 )

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