Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in GTPBP3
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Combined oxidative phosphorylation deficiency caused by mutation in GTPBP3 is a very rare inherited mitochondrial disease. In medical databases it is usually ...

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Combined Oxidative Phosphorylation Defect Type 23 (COXPD23)
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Combined oxidative phosphorylation defect type 23 (COXPD23) is a very rare genetic mitochondrial disease. It happens when both copies of a gene called GTPBP3 ...

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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in TARS2
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Combined oxidative phosphorylation deficiency caused by mutation in TARS2 is a very rare genetic mitochondrial disease. In medical books it is usually called ...

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Combined Oxidative Phosphorylation Defect Type 21
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Combined oxidative phosphorylation defect type 21 (often written as COXPD21) is a very rare genetic disease that damages the tiny power plants inside our ...

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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in VARS2
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Combined oxidative phosphorylation deficiency caused by mutation in VARS2 is a very rare genetic disease. Doctors also call it Combined oxidative ...

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Combined Oxidative Phosphorylation Defect Type 20
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Combined oxidative phosphorylation defect type 20 (often written as COXPD20) is a very rare genetic disease that affects how the mitochondria in body cells ...

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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in MRPS16
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Combined oxidative phosphorylation deficiency caused by mutation in MRPS16 is a very rare, serious genetic disease of the mitochondria, the “power plants” ...

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Combined Oxidative Phosphorylation Defect Type 2
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Combined oxidative phosphorylation defect type 2 (often written as combined oxidative phosphorylation deficiency 2 or COXPD2) is a very rare, very severe ...

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Combined Oxidative Phosphorylation Deficiency Type 17
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Combined oxidative phosphorylation deficiency type 17 (often written as COXPD17) is a very rare genetic disease that affects the “power stations” of the cell, ...

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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in ELAC2
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Combined oxidative phosphorylation deficiency caused by mutation in ELAC2 is a very rare genetic disease that mostly affects the heart and brain. It belongs to ...

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Combined Oxidative Phosphorylation Defect Type 17
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Combined oxidative phosphorylation defect type 17 (also called COXPD17) is a very rare genetic disease that affects the tiny “power stations” inside cells, ...

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MTFMT Combined Oxidative Phosphorylation Deficiency
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MTFMT combined oxidative phosphorylation deficiency is a rare inherited disease of the tiny “power plants” inside our cells, called mitochondria. In this ...

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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in MTFMT
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Combined oxidative phosphorylation deficiency caused by mutation in MTFMT (also called combined oxidative phosphorylation defect type 15 or COXPD15) is a very ...

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Combined Oxidative Phosphorylation Defect Type 15
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Combined oxidative phosphorylation defect type 15 is a very rare inherited disease that affects how the “power stations” of the cell, called mitochondria, make ...

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FARS2 Combined Oxidative Phosphorylation Deficiency
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FARS2 combined oxidative phosphorylation deficiency is a very rare mitochondrial disease. It happens when a gene called FARS2 does not work properly, so the ...

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Combined Oxidative Phosphorylation Deficiency Caused by Mutation in FARS2
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Combined oxidative phosphorylation deficiency caused by mutation in FARS2 is a very rare genetic disease that affects how the “power plants” of the cell, ...

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Combined Oxidative Phosphorylation Defect Type 14
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Combined oxidative phosphorylation defect type 14 (often written as COXPD14) is a very rare, serious genetic disease that affects how the tiny “power stations” ...

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PNPT1 Combined Oxidative Phosphorylation Deficiency Type 13
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PNPT1 combined oxidative phosphorylation deficiency type 13 (often shortened to COXPD13) is a very rare genetic disease that mainly affects how the body’s ...

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Combined Oxidative Phosphorylation Defect Type 13
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Combined oxidative phosphorylation defect type 13 (often shortened to COXPD13) is a very rare genetic disease that affects how the tiny “power plants” inside ...

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RMND1 Combined Oxidative Phosphorylation Deficiency Type 11
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RMND1 combined oxidative phosphorylation deficiency type 11 is a very rare genetic mitochondrial disease. It happens when both copies of a gene called RMND1 do ...

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