A malignant adrenal gland neoplasm is a cancer that starts in one of the two small glands that sit on top of the kidneys. Each adrenal gland has two parts. The ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal Dominant Intellectual Disability (ADID) is a group of genetic conditions where a single changed gene from one parent (or a new change in the child) ...
ADNP-related multiple congenital anomalies is a rare genetic condition that begins before birth. It happens when one copy of the ADNP gene does not work as it ...
Dercum’s disease is a rare disorder where painful lumps of fat (lipomas and angiolipomas) form in the layer of fat under the skin. The pain can be constant or ...
Adipose tissue rheumatism is an old name for a rare pain condition now most often called adiposis dolorosa or Dercum’s disease. In this condition, the fat ...
Adiposalgia means pain that comes from fatty (adipose) tissue. The pain can be burning, aching, sore, or very tender when pressed. It may come from scattered ...
Adiposis dolorosa, also called Dercum’s disease, is a rare condition in which soft, fatty lumps (lipomas or angiolipomas) form under the skin and are painful. ...
Adenylosuccinate lyase deficiency is a very rare, inherited metabolic brain disorder. It happens when changes (mutations) in the ADSL gene reduce the work of ...
Adenosine triphosphatase (ATPase) deficiency is a group of rare disorders in which one of the body’s ATP-driven pumps or transporters does not work well. ...
Myoadenylate deaminase deficiency is a muscle energy problem. In healthy muscle, an enzyme called myoadenylate deaminase (also named AMP deaminase 1, made by ...
Adenosine monophosphate deaminase deficiency (often shortened to AMPD deficiency) is a muscle energy-processing problem. In healthy muscle, an enzyme called ...
Adenosine kinase (ADK) deficiency is a rare, inherited metabolic disease. A tiny change in both copies of the ADK gene makes the enzyme adenosine kinase work ...
Adenosine kinase deficiency is a very rare, inherited metabolic disorder. The ADK enzyme normally turns adenosine into AMP. When ADK is weak or missing, ...
Autosomal recessive intellectual disability (ARID) is a group of conditions where a child has global learning and thinking problems because of changes in both ...
ADK hypermethioninemia is a very rare genetic metabolic disorder. It happens when the adenosine kinase (ADK) enzyme does not work well because of changes ...
Adenosine kinase deficiency is a very rare, inherited metabolic disease. The body normally uses an enzyme called adenosine kinase (ADK) to change adenosine ...
2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called ...
2,8-dihydroxyadenine (DHA) urolithiasis is a rare form of kidney stone disease. It happens when the body cannot recycle the purine base adenine in the normal ...
Adenine phosphoribosyltransferase (APRT) deficiency is a rare, inherited disorder of purine recycling (the “salvage pathway”). In healthy cells, the APRT ...
Heredopathia ophthalmo-oto-encephalica is a very rare inherited brain and nerve disease. It is caused by a change (mutation) in a gene called ITM2B/BRI2. This ...
