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Mucolipidosis IV is a rare, inherited, lysosomal storage disease that most commonly occurs in children of Jewish descent. A lysosome is the part of the cell that is responsible for breaking down digested nutrients like fats and carbohydrates into simpler substances to be used by the cell. To do this, the lysosome uses special proteins called enzymes. In lysosomal storage diseases, such as Mucolipi...

Mucolipidosis type I (ML-I) is a very rare, inherited condition classified as a lysosomal storage disorder and is caused by a missing or poorly functioning enzyme. In affected individuals, the missing or insufficient enzyme prevents the normal breakdown of waste material. This results in the buildup and storage of material in almost every cell of the body. As a result, cells do not function prope...

The human body is made up of trillions of cells. All of these cells communicate with each other and are arranged in a specific way to make you who you are. Some types of cells make up your brain, some make up your muscles, others make up your gut, and then some act to hold all of them together. These last cells provide structure for the body. Some of these make bones to build a framework, some for...

Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is also an autosomal recessive form. The disorder affects the growing ends of bones. Bones usually elongate by a process that involves the deposition of cartilage at the ends of the bones called ossification. This cartilage then mineralizes and...

Multiple Sclerosis (MS) is a progressive neurological disease that affects the central nervous system (brain and spinal cord). The outer covering of nerve cells (neurons) known as the myelin sheath is specifically destroyed in MS, leading to weakness, sensation loss, and other neurological deficits. This disease most notably affects the brain, spinal cord, and the optic nerve (nerve connecting the...

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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