combined oxidative phosphorylation deficiency
Go to external page http://purl.obolibrary.org/obo/MONDO_0000732
A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. [ https://orcid.org/0000-0002-6601-2165 ]
Term information
- MEDGEN:1626645 (MONDO:equivalentTo)
- DOID:0060286 (MONDO:equivalentTo)
- OMIMPS:609060 (https://orcid.org/0000-0002-6601-2165)
- UMLS:C4540031 (MONDO:equivalentTo)
gard_rare, otar, rare, nord_rare
http://identifiers.org/medgen/1626645
https://omim.org/phenotypicSeries/PS609060
http://linkedlifedata.com/resource/umls/id/C4540031
http://purl.obolibrary.org/obo/DOID_0060286
https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency