nuclear type mitochondrial complex I deficiency 18

Term ID

DOID:0112070

Synonyms

MC1DN18

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. https://pubmed.ncbi.nlm.nih.gov/19463981/

References

MIM:618240

Ontology

Human Disease ( DOID:0112070 )

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