JSON

[X] mitochondrial oxidative phosphorylation disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0016387

A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. [ https://omim.org/entry/609060 ]

Synonyms: OXPHOS disease OXPHOS system deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:1825947 (MONDO:equivalentTo)
  • UMLS:C5679825 (MONDO:equivalentTo)
  • Orphanet:223713 (MONDO:equivalentTo)
  • GARD:20546 (MONDO:GARD)
  • icd11.foundation:1204111545 (https://orcid.org/0000-0002-4142-7153)
Subsets

gard_rare, matrix_llm__is_cancer_other, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, harrisons_view_mitochondrial_disease, rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_mitochondrial_disease, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, ordo_group_of_disorders, harrisons_view_metabolic_disease

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_disrupted_process.yaml

exactMatch

http://identifiers.org/medgen/1825947

http://linkedlifedata.com/resource/umls/id/C5679825

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1204111545

http://www.orpha.net/ORDO/Orphanet_223713

id

MONDO:0016387