Rx Autoimmune, Genetic and Rare Diseases (A – Z) – Page 159

Birt-Hogg-Dubé (BHD) syndrome also known as Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic skin disorder (genodermatosis) ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Biotinidase Deficiency

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Biotinidase deficiency (BTD) is inherited via an autosomal recessive pattern via two pathogenic variants in the BTD gene, located at chromosome 3p25.1. BTD encodes for the biotinidase protein and ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Binswanger Disease

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Binswanger disease also known as subcortical arteriosclerotic degeneration of the white matter encephalopathy is a progressive neurological chronic, uncontrolled, arterial hypertension disorder ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Binder-Type Nasomaxillary Dysplasia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Binder-type nasomaxillary dysplasia also known as binder's syndrome is a rare developmental defect that is present at birth (congenital) and characterized by a retruded mid-face with an extremely ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Biliary Atresia

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Biliary atresia is a rare gastrointestinal obstructive cholangiopathy disease of the intrahepatic or extrahepatic bile duct disorder characterized by the destruction or absence of all or a portion ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bile Acid Synthesis Disorders (BASDs)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Bile acid synthesis disorders (BASDs) are a group of rare metabolic disorders characterized by defects in the creation (synthesis) of bile acids. Bile acids are chemical compounds found in the ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Best Vitelliform Macular Dystrophy (BVMD)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Best vitelliform macular dystrophy (BVMD) is a genetic rare autosomal dominant form of macular degeneration (damage to a part of the eye called the macula) that occurs due to the mutation of BEST1 ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Berylliosis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Berylliosis also known as chronic beryllium disease (CBD), is a granulomatous disease caused by exposure to beryllium a form of metal poisoning caused by inhalation of beryllium dust, vapors, or ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bernard-Soulier Syndrome (BSS)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Bernard-Soulier syndrome (BSS) is a rare autosomal-recessive inherited mucocutaneous bleeding disorder of blood clotting (coagulation) characterized by unusually large platelets, and unusually ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Benign Paroxysmal Position Vertigo (BPPV)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Benign paroxysmal position vertigo (BPPV) is a peripheral perception of motion in the absence of movement disorder characterized by a brief, sensation of swaying, tilting, spinning, or feeling ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Benign Essential Blepharospasm (BEB)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Benign essential blepharospasm (BEB) is a rare focal cranial dystonia neurological disorder characterized by involuntary contractions of orbicularis oculi muscle contractions, resulting in ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bejel, Dichuchwa

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Bejel is an infectious disease non-venereal tropical infectious disease caused by the organism Treponema pertenue that is rare in the United States but common in certain parts of the world. The ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Behçet’s Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Behçet’s syndrome also known as an oculo-orogenital syndrome, malignant aphthosis is a rare multisystem inflammatory chronic remitting and relapsing auto-inflammatory systemic vascular disorder of ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Beckwith-Wiedemann Syndrome (BWS)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

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

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bartter Disease

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure in ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bartter Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure in ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bartonellosis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Bartonellosis is a group of gram-negative intracellular facultative bacterium emerging infectious diseases caused by bacteria belonging to the Bartonella genus. Bartonella includes at least 22 ...

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Barth Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

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

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Bardet-Biedl Syndrome (BBS)

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

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

Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Barakat Syndrome

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist

Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by three characteristics: hypoparathyroidism (H) (decreased function of ...