combined oxidative phosphorylation deficiency 54

Term ID

DOID:0070427

Synonyms

COXPD54

Definition

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. https://pubmed.ncbi.nlm.nih.gov/34715011/

References

MIM:619737

Ontology

Human Disease ( DOID:0070427 )

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