nuclear type mitochondrial complex I deficiency 5

Term ID

DOID:0112068

Synonyms

MC1DN5

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. https://pubmed.ncbi.nlm.nih.gov/11349233/

References

OMIM:618226

Ontology

Human Disease ( DOID:0112068 )

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