Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 16

Term ID
DOID:0111469
Synonyms
  • COXPD16
  • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. https://www.ncbi.nlm.nih.gov/pubmed/23315540
References
  • GARD:12892
  • MIM:615395
  • ORDO:352563
Ontology
Human Disease   ( DOID:0111469 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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