Birt-Hogg-Dubé (BHD) syndrome also known as Hornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Biotinidase deficiency (BTD)Â is inherited via an autosomal recessive pattern via two pathogenic variants in the BTDÂ gene, located at chromosome ...
Binswanger disease also known as subcortical arteriosclerotic degeneration of the white matter encephalopathy is a progressive neurological chronic, ...
Binder-type nasomaxillary dysplasia also known as binder's syndrome is a rare developmental defect that is present at birth (congenital) and characterized by ...
Biliary atresia is a rare gastrointestinal obstructive cholangiopathy disease of the intrahepatic or extrahepatic bile duct disorder characterized by the ...
Bile acid synthesis disorders (BASDs) are a group of rare metabolic disorders characterized by defects in the creation (synthesis) of bile acids. Bile acids ...
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) ...
Berylliosis also known as chronic beryllium disease (CBD), is a granulomatous disease caused by exposure to beryllium a form of metal poisoning caused by ...
Bernard-Soulier syndrome (BSS) is a rare autosomal-recessive inherited mucocutaneous bleeding disorder of blood clotting (coagulation) characterized by ...
Benign paroxysmal position vertigo (BPPV) is a peripheral perception of motion in the absence of movement disorder characterized by a brief, sensation of ...
Benign essential blepharospasm (BEB) is a rare focal cranial dystonia neurological disorder characterized by involuntary contractions of orbicularis oculi ...
Bejel is an infectious disease non-venereal tropical infectious disease caused by the organism Treponema pertenue that is rare in the United States but ...
Behçet’s syndrome also known as an oculo-orogenital syndrome, malignant aphthosis is a rare multisystem inflammatory chronic remitting and relapsing ...
Beckwith-Wiedemann syndrome (BWS) is the most common genetic imprinting, overgrowth, cancer predisposition, genetically and clinically heterogeneous disorder ...
Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume ...
Bartter syndrome is a general term for a group of rare genetic autosomal recessive disorders of salt reabsorption resulting in extracellular fluid volume ...
Bartonellosis is a group of gram-negative intracellular facultative bacterium emerging infectious diseases caused by bacteria belonging to the Bartonella ...
Barth syndrome is a genetic ultra-rare, infantile-onset, X-linked recessive metabolic mitochondrial disorder characterized by cardiomyopathy, neutropenia, ...
Bardet-Biedl syndrome (BBS) is a genetic rare autosomal recessive ciliopathy condition that impacts multiple body systems. It is characterized by ...
Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by three characteristics: ...
