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Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.","xref":["DOID:0111491","GARD:0017456","MEDGEN:1646555","OMIM:614947","Orphanet:319524","SCTID:763203009","UMLS:C4706313"],"synonym":["COXPD15","MTFMT combined oxidative phosphorylation deficiency","combined oxidative phosphorylation defect type 15","combined oxidative phosphorylation deficiency 15","combined oxidative phosphorylation deficiency caused by mutation in MTFMT","combined oxidative phosphorylation deficiency type 15"],"exact_synonym":["COXPD15","MTFMT combined oxidative phosphorylation deficiency","combined oxidative phosphorylation defect type 15","combined oxidative phosphorylation deficiency caused by mutation in MTFMT","combined oxidative phosphorylation deficiency type 15"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["combined oxidative phosphorylation deficiency 15"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["doid_rare","gard_rare","nord_rare","ordo_disorder","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":3.9054277,"matched_field":null,"match_type":null,"highlighting":{"description":[" <em>Leigh</em> <em>syndrome</em> are also reported."]}},{"id":"MONDO:0016578","category":"biolink:Disease","name":"obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","description":"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.","xref":["Orphanet:2443"],"synonym":["OXPHOS disease due to nDNA anomalies","OXPHOS disease due to nuclear DNA anomalies","mitochondrial oxidative phosphorylation disorder due to nDNA anomalies"],"exact_synonym":["OXPHOS disease due to nDNA anomalies","OXPHOS disease due to nuclear DNA anomalies","mitochondrial oxidative phosphorylation disorder due to nDNA anomalies"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":true,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["ordo_group_of_disorders"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":0.42367822,"matched_field":null,"match_type":null,"highlighting":{"description":[" defects in: genes encoding structural components of OXPHOS complexes (such as <em>Leigh</em> <em>syndrome</em>, coenzyme Q10"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":16}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}