Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0016578> ?p ?o ?g. }
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- MONDO_0016578 IAO_0000115 "OBSOLETE. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis." @default.
- MONDO_0016578 IAO_0000231 OMO_0001000 @default.
- MONDO_0016578 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/3886" @default.
- MONDO_0016578 normalizedInformationContent "100" @default.
- MONDO_0016578 referenceCount "1" @default.
- MONDO_0016578 consider "MONDO:0016387" @default.
- MONDO_0016578 hasDbXref "GARD:18771" @default.
- MONDO_0016578 hasDbXref "Orphanet:2443" @default.
- MONDO_0016578 hasDbXref "UMLS:CN201731" @default.
- MONDO_0016578 hasExactSynonym "OXPHOS disease due to nDNA anomalies" @default.
- MONDO_0016578 hasExactSynonym "OXPHOS disease due to nuclear DNA anomalies" @default.
- MONDO_0016578 hasExactSynonym "mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" @default.
- MONDO_0016578 id "MONDO:0016578" @default.
- MONDO_0016578 inSubset gard_rare @default.
- MONDO_0016578 inSubset ordo_group_of_disorders @default.
- MONDO_0016578 inSubset rare @default.
- MONDO_0016578 type Class @default.
- MONDO_0016578 comment "Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: mitochondrial oxidative phosphorylation disorder'" @default.
- MONDO_0016578 isDefinedBy mondo.owl @default.
- MONDO_0016578 label "obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" @default.
- MONDO_0016578 subClassOf MONDO_0016578 @default.
- MONDO_0016578 subClassOf Thing @default.
- MONDO_0016578 deprecated "true" @default.
- MONDO_0016578 exactMatch CN201731 @default.
- MONDO_0016578 exactMatch Orphanet_2443 @default.