Banti Syndrome
Banti syndrome is a disorder of the spleen, the large, gland-like organ in the upper left side of the abdomen that produces red blood cells before birth and, in newborns, removes and destroys aged ...
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Banti syndrome is a disorder of the spleen, the large, gland-like organ in the upper left side of the abdomen that produces red blood cells before birth and, in newborns, removes and destroys aged ...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) also known as Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcava-Myhre-Smith syndrome is a rare genetic overgrowth syndrome and hamartomatous ...
Balo Disease is also known as Balo disease, encephalitis periaxialis concentrica, leukoencephalitis periaxialis concentric and concentric sclerosis are rare and progressive variants of multiple ...
Baller-Gerold syndrome (BGS) also referred to as craniosynostosis-radial aplasia syndrome is a rare genetic disorder that is characterized by craniosynostosis, particularly of the coronal sutures, ...
Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single-celled parasite (ciliate protozoan) that frequently infects pigs but on occasion (rarely) infects ...
Babesiosis is a rare infectious disease caused by single-celled microorganisms (protozoa) belonging to the Babesia family. Babesiosis is an infectious disease caused by intraerythrocytic, ...
Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder that encompasses anterior segment ocular dysgenesis in addition to systemic abnormalities such as dental, cardiac, craniofacial, and ...
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged ...
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a skeletal condition that is characterized by rickets, bone pain, bone deformities, increased risk of bone fractures, fatigue, short ...
Autosomal dominant hyper IgE syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder distinguished by the clinical triad of atopic dermatitis, recurrent skin staphylococcal ...
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) irrespective of gestational or ...
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 with colitis present with watery ...
Autoinflammation with infantile enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and affects patients throughout adulthood. AIFEC ...
Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple autoimmunities. It presents as a group of symptoms ...
Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, clusters of endocrine abnormalities is a rare autoimmune disorder in which there is a steep drop in the production of ...
Autoimmune blistering diseases are a group of disorders in which the body mistakenly attacks healthy tissue, causing blistering lesions that primarily affect the skin and mucous membranes. In ...
Auditory neuropathy spectrum disorder (ANSD) is a newly described condition defined as a sensorineural hearing loss that affects a person’s ability to hear or understand speech. Sensorineural means ...
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 improperly developed atrial and ventricular ...
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 separates the two upper chambers (atria) ...
Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess ...