Neonatal hyperglycemia is usually defined as serum glucose greater than 150 mg/dl (8.3 mmol/L) or whole blood glucose greater than 125 mg/dl (6.9 mmol/L) ...
Colitis is inflammation of the mucosal lining of the colon which may be acute or chronic. Colitis is common and increasing in prevalence worldwide. Patients ...
Autoinflammation with infantile enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and ...
Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple ...
Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, clusters of endocrine abnormalities is a rare autoimmune disorder in which there ...
Autoimmune blistering diseases are a group of disorders in which the body mistakenly attacks healthy tissue, causing blistering lesions that primarily affect ...
Auditory neuropathy spectrum disorder (ANSD) is a newly described condition defined as a sensorineural hearing loss that affects a person’s ability to hear ...
Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have ...
Atrial septal defects (ASDs) are a group of rare disorders of the heart that are present at birth (congenital) and involve a hole in the wall (septum) that ...
Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic ...
ATR-16 syndrome is an extremely rare genetic disorder in which affected individuals have a large loss of genetic material (monosomy) on chromosome 16 in ...
Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements ...
Ataxia-telangiectasia (AT) is also known as (Louis-Bar Syndrome) a complex is a rare autosomal recessive genetic neurodegenerative disorder that is ...
An astrocytoma is a tumor that arises from the star-shaped cells (astrocytes) that form the supportive tissue of the brain. Other supportive cells of the ...
Asphyxiating thoracic dystrophy (ATD) is a very rare form of skeletal dysplasia that primarily affects the development of the bone structure of the chest ...
Allergic bronchopulmonary aspergillosis (ABPA) is a common fungal infection in uncontrolled asthmatics, cystic fibrosis patients, and immunocompromised ...
An aspergilloma is a fungus ball or mycetoma composed of Aspergillus hyphae along with cellular debris and mucus. It is a noninvasive type of chronic ...
Aspergillus is a ubiquitous saprophyte in nature found in air, soil, and organic matter. Humans normally inhale the spore form of the fungi. However, the ...
Aspergillosis is a fungal infection caused by Aspergillus, a species of mold that is found all over the world and occurs in the form of chronic pulmonary ...
Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish descent but is also found, even more rarely, in other ...