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Human Disease
combined oxidative phosphorylation deficiency 52
- Term ID
- DOID:0070425
- Synonyms
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- COXPD52
- Definition
- A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (2)
- References
- Ontology
- Human Disease ( DOID:0070425 )
- is a type of
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