combined oxidative phosphorylation deficiency 57

Term ID

DOID:0070430

Synonyms

COXPD57

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/35147173/

References

OMIM:620167

Ontology

Human Disease ( DOID:0070430 )

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