nuclear type mitochondrial complex I deficiency 25

Term ID

DOID:0112067

Synonyms

MC1DN25

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. https://pubmed.ncbi.nlm.nih.gov/22277967/

References

OMIM:618246

Ontology

Human Disease ( DOID:0112067 )

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