Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 44
- Term ID
- DOID:0070424
- Synonyms
-
- COXPD44
- Definition
- A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. (2)
- References
-
- MIM:618855
- ORDO:166105
- Ontology
- Human Disease ( DOID:0070424 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models