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Friday, Oct 10, 2008 | 07:46 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
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
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
NAGS Deficiency
N-Acetylglutamate Synthase Deficiency
N-Acetylglutamate Synthase Deficiency (NAGS deficiency) is a rare, inherited disorder that affects the metabolism of nitrogen. Nitrogen comes from the protein found in our diet or from the breakdown of protein in our body that occurs when we are sick. Nitrogen from these sources is usually in the form of chemical called ammonia. Ammonia must be removed from the body and to do so it must first b...
Nail-Patella Syndrome
Hereditary Onychoosteodyplasia, Fong's disease, Iliac Horn Syndrome,
Turner-Kieser syndrome
Nail-Patella Syndrome (NPS) is a rare genetic disorder that affects the bones, joints and connective tissue, as well as the kidneys and the eyes. The fingernails and specific bones in the knee and elbow may be misshapen or absent, and the kidneys may not work properly.
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Neonatal Hepatitis
Neonatal Hepatitis is a disease that affects the liver during the first few months of life. Neonatal Hepatitis means that the liver has become inflamed and this can result in scarring and permanent damage. Twenty percent of cases of neonatal hepatitis are caused by a virus, and in the other 80% of cases no virus can be found, however, many researchers suspect an infection is the cause.
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Neonatal Onset Multisystem Inflammatory Disease
NOMID, CINCA
Neonatal Onset Multisystem Inflammatory Disease (NOMID) is a genetic disorder that results in the immune system inappropriately attacking the body’s own tissues, especially cartilage. The inflammation leads to rash, joint deformities, and severe neurologic problems. The disorder begins shortly after birth. This disease is called CINCA in Europe.
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Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus (NDI) is a very rare disorder characterized by the inability of the kidneys to concentrate urine and conserve body water. Diabetes refers to “excessive urination” in Greek and insipidus means “tasteless” in Latin. Unlike in diabetes mellitus (DM), where the urine is sweet, in diabetes insipidus (DI) the urine is neither sweet nor salty. NDI was first described in 176...