mitochondrial complex V (ATP synthase) deficiency nuclear type 5

Term ID

DOID:0070463

Synonyms

MC5DN5

Definition

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/29478781/

References

OMIM:618120

Ontology

Human Disease ( DOID:0070463 )

Relationships

is a type of: autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency

autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations