nuclear type mitochondrial complex I deficiency 24

Term ID

DOID:0112079

Synonyms

MC1DN24

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. https://pubmed.ncbi.nlm.nih.gov/22200994/

References

OMIM:618245

Ontology

Human Disease ( DOID:0112079 )

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