nuclear type mitochondrial complex I deficiency 8

Term ID

DOID:0112081

Synonyms

MC1DN8

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. https://pubmed.ncbi.nlm.nih.gov/14729820/

References

MIM:618230

Ontology

Human Disease ( DOID:0112081 )

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