Rare Disease Library

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

OBSOLETE: Recessive hereditary methemoglobinemia type 1

OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 · OBSOLETE: Recessive congenital methemoglobinemia type 1

OBSOLETE: Recessive hereditary methemoglobinemia type 2

OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 · OBSOLETE: Recessive congenital methemoglobinemia type 2

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia