OBO ID: DOID:0060286
Term Name: combined oxidative phosphorylation deficiency Search Ontology:
Synonyms:
Definition: A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency
References:
Ontology: Human Disease   (DOID:0060286)
Relationships
is a type of:
has subtype:
OTHER combined oxidative phosphorylation deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
AB + MO1-fastkd2 standard conditions Wei et al., 2020
PHENOTYPE No data available

CITATIONS (1)