Rare Disease Library

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to COXPD3

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Gitelman-like kidney tubulopathy due to mtDNA mutation

Mitochondrial disease

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA · OXPHOS disease due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies · OXPHOS disease due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies · OXPHOS disease due to nDNA anomalies

OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA

OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA

OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

OBSOLETE: OXPHOS disease due to a duplication of mtDNA · OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA

Okihiro syndrome due to a point mutation

Duane-radial ray syndrome due to a point mutation