nuclear type mitochondrial complex I deficiency 21

Term ID

DOID:0112088

Synonyms

MC1DN21

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. https://pubmed.ncbi.nlm.nih.gov/20818383/

References

OMIM:618242

Ontology

Human Disease ( DOID:0112088 )

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