nuclear type mitochondrial complex I deficiency 2

Term ID

DOID:0112083

Synonyms

MC1DN2

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. https://pubmed.ncbi.nlm.nih.gov/9837812/

References

OMIM:618222

Ontology

Human Disease ( DOID:0112083 )

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