nuclear type mitochondrial complex I deficiency 7

Term ID

DOID:0112092

Synonyms

MC1DN7

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. https://pubmed.ncbi.nlm.nih.gov/12754703/

References

MIM:618229

Ontology

Human Disease ( DOID:0112092 )

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