Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Benign Essential Blepharospasm (BEB)
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Benign essential blepharospasm (BEB) is a rare focal cranial dystonia neurological disorder characterized by involuntary contractions of orbicularis oculi ...

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Bejel, Dichuchwa
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Bejel is an infectious disease non-venereal tropical infectious disease caused by the organismĀ TreponemaĀ pertenue that is rare in the United States but ...

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BehƧet’s Syndrome
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BehƧet’s syndrome also known as an oculo-orogenital syndrome, malignant aphthosis is a rare multisystem inflammatory chronic remitting and relapsing ...

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Beckwith-Wiedemann Syndrome (BWS)
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Beckwith-Wiedemann syndrome (BWS) is the most common genetic imprinting, overgrowth, cancer predisposition, genetically and clinically heterogeneous disorder ...

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Bartter Disease
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Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume ...

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Bartter Syndrome
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Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume ...

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Bartonellosis
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Bartonellosis is a group of gram-negative intracellular facultative bacterium emerging infectious diseases caused by bacteria belonging to the Bartonella ...

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Barth Syndrome
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Barth syndrome is a genetic ultra-rare, infantile-onset, X-linked recessive metabolic mitochondrial disorder characterized by cardiomyopathy, neutropenia, ...

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Bardet-Biedl Syndrome (BBS)
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Bardet-Biedl syndrome (BBS) is a genetic rare autosomal recessive ciliopathy condition that impacts multiple body systems. It is characterized by ...

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Barakat Syndrome
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Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by three characteristics: ...

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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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