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Albinism is a group of disorders in which melanocytes, or pigment cells, are dysfunctional, causing a lack of pigmentation of the skin, eyes, and hair. Individuals are born with white hair and skin and the iris of the eye is translucent. In many cases, the skin, hair, and eyes will darken with age or with sun exposure. Additionally, individuals may have reduced vision. There are generally two ...

Alexander disease is a rare, progressive neurological disorder caused by destruction of nerve fibers in the brain leading to seizures, spasticity (muscle stiffness), and mental retardation. Alexander disease is one of a group of disorders known as the leukodystrophies. ...

Alexander Disease is a rare, progressive neurological disorder caused by the destruction of nerve fibers in the brain leading to seizures, spasticity (muscle stiffness) and mental retardation ...

Alkaptonuria is a rare childhood disorder that causes a substance called homogentisic acid to build up in the body. Children with this disorder have an enzyme that doesn’t work correctly. This enzyme is unable to breakdown two important amino acids called tyrosine and phenylalanine. Homogentisic acid then starts to collect in abnormal amounts in the body. Too much homogentisic acid can cause prob...

Allergic Bronchopulmonary Aspergillosis (ABPA) is an allergic reaction to a type of fungus called Aspergillus fumigatus. ABPA is characterized by inflammation and narrowing of the bronchi and alveoli, which are parts of the airway. ABPA occurs only in those who are hypersensitive to this type of fungus. ...

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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