combined oxidative phosphorylation deficiency 51

Term ID

DOID:0112137

Synonyms

COXPD51

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. https://pubmed.ncbi.nlm.nih.gov/30607703/

References

OMIM:619057

Ontology

Human Disease ( DOID:0112137 )

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