combined oxidative phosphorylation deficiency 27

Term ID

DOID:0111489

Synonyms

COXPD27

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. (2)

References

OMIM:616672
ORDO:477774

Ontology

Human Disease ( DOID:0111489 )

Relationships

is a type of: autosomal recessive disease combined oxidative phosphorylation deficiency

autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations