Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 5

Term ID
DOID:0111473
Synonyms
  • COXPD5
  • hypotonia with lactic acidemia and hyperammonemia
Definition
A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (2)
References
Ontology
Human Disease   ( DOID:0111473 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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