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Germinomas are a type of germ cell tumor which can occur within the central nervous system (CNS) and a type of malignant brain tumors. They are thought to originate from transformation of germ cells (sex cells) that have inappropriately migrated into or failed to migrate out of the brain during fetal development. This type of tumor has the potential to spread to the lungs, bone and spine. ...

Isaacs’ syndrome is a rare disorder affecting the signaling between nerves and muscles. It is characterized by involuntary muscle contractions, stiffness and cramping (especially in the limbs), increased skin temperature and sweating, and fasciculations. Fasciculations are involuntary twitchings of groups of muscle fibers leading to a coarse form of muscle contraction. The involuntary muscle contr...

Isovaleric Acidemia (IVA) is a rare, inherited condition caused by a missing or poorly functioning enzyme named isovaleryl-CoA dehydrogenase. This enzyme is important for the breakdown of protein in the body. During prolonged periods of fasting, protein from food and protein in the body’s muscles is broken down into amino acids, which are then changed into glucose. Isovaleric acid is made during t...

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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