nuclear type mitochondrial complex I deficiency 23

Term ID

DOID:0112087

Synonyms

MC1DN23

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. https://pubmed.ncbi.nlm.nih.gov/21617257/

References

MIM:618244

Ontology

Human Disease ( DOID:0112087 )

Relationships

is a type of: autosomal recessive disease nuclear type mitochondrial complex I deficiency

autosomal recessive disease nuclear type mitochondrial complex I deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models