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Aspartylglycosaminuria is a very rare, inherited disorder that most commonly affects children. It is characterized by the progressive development of abnormal facial features, deformities of the extremities, and mental retardation. This disease is considered to belong to a class of genetic disorders known as lysosomal storage diseases. A common feature of lysosomal storage diseases is the accumula...

Astrocytoma is a general term applied to a wide range of neoplasms, or abnormal tissue growth called "tumors," affecting the central nervous system (CNS). Astrocytoma is the most common type of brain tumor in children. The tumor is composed of astrocytes, which are special star-shaped cells unique to the CNS.   These tumors can vary in their location, clinical course, extent of invasiven...

Ataxia Telangiectasia (AT) is a rare progressive neurological disease with various complications affecting the neurologic, hepatic (liver), and endocrinologic (hormones) systems. It is characterized by ataxia (unsteady gait) , telangiectasias (dilated blood vessels of the skin and eyes), immunodeficiency involving some of the cells of the immune system like B and T cells, and a predisposition to c...

Atrial myxomas are tumors of heart tissue, specifically the non-muscle tissues that make up the heart. While most cardiac tumors are caused by the spread of tumors from somewhere else, atrial myxomas actually originate in the heart. They are usually found in the upper chambers of the heart, or atria. The tumor starts from the wall that divides the top two chambers of the heart and grows outward. I...

Autism is a complex disorder primarily affecting a child’s development. Children with this disorder have problems with social relationships, communication skills and behavior. Typical symptoms may include little or no interest in social interactions, delays in learning language, and repetitive movements. Lack of interest in social interaction is often noticed before the first birthday. Autism is 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