nuclear type mitochondrial complex I deficiency 6

Term ID

DOID:0112066

Synonyms

MC1DN6

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the NDUFS2 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/11220739/

References

OMIM:618228

Ontology

Human Disease ( DOID:0112066 )

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

Citations