Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Synonyms

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies

OXPHOS disease due to nuclear DNA anomalies

OXPHOS disease due to nDNA anomalies
ID

http://www.limics.org/hrdo/rdfns#pat_id_277
ageOfOnset

Variable
altLabel

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies

OXPHOS disease due to nuclear DNA anomalies

OXPHOS disease due to nDNA anomalies
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mitochondrial+Diseases+(Oxidative+Phosphorylation%5Bmh%5D+OR+Mitochondrial+Proteins%5Bmh%3Anoexp%5D+OR+(%22complex+V%22+Mitochondrial+ATP+Synthase%2Fge))
id_Orpha

2443
inheritance

Autosomal recessive
patType

group of phenomes
prefixIRI

hrdo:pat_id_277
prefLabel

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
prevalence

1-9 / 100 000
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_18973

http://www.limics.org/hrdo/rdfns#pat_id_10520
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