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Pseudoxanthoma Elasticum (PXE) is a rare inherited disorder of the connective tissue. The connective tissues are the structural parts of the body that essentially hold the body’s cells together and form a framework for the body. One of the major parts of connective tissue is a protein named elastin. Elastin gives connective tissue the capability of stretching and returning to the original length l...

Pulmonary hypertension is a rare condition in which the blood pressure in the vessels of the lungs is increased. This increase in pressure may be the result of damage to the lining of the vessels of the lungs. Pulmonary hypertension is classified into two types: primary (also known as idiopathic) and secondary. The cause of primary hypertension is unknown. Secondary hypertension, in contrast, is c...

Pyruvate decarboxylase deficiency (PDH deficiency) is a rare, inherited, genetic disorder that results in energy deprivation to the body’s cells and the accumulation of lactic acid (cellular byproduct) in the blood. PDH deficiency is classified as a type of inborn error of metabolism and results in neurological problems. ...

Pyruvate Kinase Deficiency (PKD) is a hereditary blood disorder that leads to excessive destruction of red blood cells. This excessive destruction leads to low red blood cell counts, called anemia, and can cause severe fatigue, shortness of breath, jaundice and gallstones. ...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All