Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Banti Syndrome
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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, ...

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Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
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Bannayan-Riley-Ruvalcaba syndrome (BRRS) also known as Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcava-Myhre-Smith syndrome is a rare ...

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Balo Disease
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Balo Disease is also known as Balo disease, encephalitis periaxialis concentrica, leukoencephalitis periaxialis concentric and concentric sclerosis are rare ...

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Baller-Gerold Syndrome
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Baller-Gerold syndrome (BGS) also referred to as craniosynostosis-radial aplasia syndrome is a rare genetic disorder that is characterized by ...

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Balantidiasis
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Balantidiasis is a rare intestinal infection caused by the bacterium, Balantidium coli, a single-celled parasite (ciliate protozoan) that frequently infects ...

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Babesiosis
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Babesiosis is a rare infectious disease caused by single-celled microorganisms (protozoa) belonging to the Babesia family. Babesiosis is an infectious ...

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Axenfeld-Rieger Syndrome (ARS)
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Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder that encompasses anterior segment ocular dysgenesis in addition to systemic abnormalities such as ...

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Autosomal Recessive Polycystic Kidney Disease (ARPKD)
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Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. ...

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Autosomal Recessive Hypophosphatemic Rickets type 2
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Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a skeletal condition that is characterized by rickets, bone pain, bone deformities, increased ...

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Autosomal Dominant Hyper IgE Syndrome
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Autosomal dominant hyper IgE syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder distinguished by the clinical triad of atopic ...

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Neonatal Hyperglycemia
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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) ...

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Colitis
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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 ...

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Autoinflammation Infantile Enterocolitis
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Autoinflammation with infantile enterocolitis (AIFEC) is a newly identified and extremely rare inflammatory disorder that manifests early in infancy and ...

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Autoimmune polyglandular syndrome type 1
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Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder of immune-cell dysfunction with multiple ...

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Autoimmune Polyendocrine Syndrome Type II
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Autoimmune polyendocrine syndrome type II, also known as Schmidt syndrome, clusters of endocrine abnormalities is a rare autoimmune disorder in which there ...

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Autoimmune Blistering Diseases
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Autoimmune blistering diseases are a group of disorders in which the body mistakenly attacks healthy tissue, causing blistering lesions that primarily affect ...

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Auditory Neuropathy Spectrum Disorder (ANSD)
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Auditory neuropathy spectrum disorder (ANSD) is a newly described condition defined as a sensorineural hearing loss that affects a person’s ability to hear ...

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Atrioventricular Septal Defect (ASVD)
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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 ...

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Atrial Septal Defects (ASDs)
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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 ...

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Atransferrinemia
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Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic ...

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