Term Name: combined oxidative phosphorylation deficiency 50
Synonyms: COXPD50
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.
Ontology: Human Disease [DOID:0112111]   ( DOID:0112111 )

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