Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 14
- Term ID
- DOID:0111477
- Synonyms
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- COXPD14
- Definition
- A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (2)
- References
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- MIM:614946
- ORDO:319519
- Ontology
- Human Disease ( DOID:0111477 )
- is a type of
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Genes Involved
Zebrafish Models