Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by the absence of skin (aplasia cutis) on the scalp and/or forehead, and myopia (nearsightedness). It is caused by a mutation in the PAX6 gene, which is responsible for the dev...

Aplasia of lacrimal and salivary glands is a rare congenital disorder in which the lacrimal and salivary glands do not develop properly. This condition can cause dry eyes and dry mouth, as well as difficulty swallowing and speaking. In some cases,...

Aplastic anemia is a rare and serious condition in which the body's bone marrow does not produce enough new blood cells. This can lead to a shortage of red blood cells, white blood cells, and platelets. Symptoms of aplastic anemia include fatigue,...

Aplastic anemia-intellectual disability-dwarfism syndrome is a rare genetic disorder characterized by aplastic anemia (a condition in which the body does not produce enough new blood cells), intellectual disability, and dwarfism. It is caused by a...

Apnea of prematurity is a condition in which premature babies stop breathing for short periods of time. It is caused by an immature respiratory system and can be a sign of other health problems. It is usually treated with oxygen and/or medication....

Apnea, infantile is a condition in which an infant stops breathing for a period of time. It is most common in premature babies, but can also occur in full-term infants. Symptoms of infantile apnea include pauses in breathing, shallow breathing, an...

Apodia is a software platform designed to help businesses manage their customer relationships. It provides a suite of tools to help businesses track customer interactions, manage customer data, and automate customer service processes. Apodia also ...

Apolipoprotein A-I deficiency is a rare genetic disorder that affects the body's ability to metabolize fats. It is caused by a mutation in the APOA1 gene, which is responsible for producing the apolipoprotein A-I protein. This protein is essential...

Apparent mineralocorticoid excess (AME) is a rare genetic disorder that affects the body's ability to regulate salt and water balance. It is caused by a mutation in the gene that codes for the enzyme 11-beta-hydroxysteroid dehydrogenase type 2 (11...

Appendiceal cancer and tumors are a type of cancer that affects the appendix, a small organ located in the lower right side of the abdomen. Appendiceal cancer is a rare form of cancer, accounting for less than 1% of all cancers in the United State...

The appendix is a small, worm-like appendage attached to the colon. Appendicitis occurs when bacteria invade and infect the wall of the appendix. The most common complications of appendicitis are rupture, abscess, and peritonitis....

Jejunal Atresia is a rare genetic disorder. Patients with this disorder are born with a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen. As a result, one of the three portions o...

Apraxia is a neurological disorder that affects a person's ability to plan and execute motor tasks. It is caused by damage to the parts of the brain that control movement, and can affect a person's ability to speak, write, and perform other motor ...

Aprosencephaly is a rare congenital disorder in which the forebrain of the embryo fails to develop properly. It is a type of cephalic disorder, which is a disorder of the head and brain. Symptoms of aprosencephaly include the absence of a forebrai...

Aprosencephaly cerebellar dysgenesis is a rare congenital disorder characterized by the absence of the forebrain and cerebellum. It is a severe form of brain malformation that is usually fatal. Symptoms may include seizures, developmental delays, ...

Aprosencephaly/atelencephaly spectrum is a group of rare congenital disorders that affect the development of the brain. It is characterized by the absence of a forebrain (the part of the brain responsible for higher functions such as thought, memo...

Aquagenic palmoplantar keratoderma is a rare skin condition characterized by the development of thick, scaly patches on the palms and soles of the feet after contact with water. It is thought to be caused by an abnormal response of the sweat gland...