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All Communities

  • Baller Gerold Syndrome

    2 members

    Baller Gerold Syndrome is a rare disorder characterized by abnormalities of certain skull bones and of bones in the arms and hands.

  • Bangstad Syndrome

    1 members

    Bangstad syndrome is an inherited congenital disorder associated with abnormalities of the cell membrane.

  • Bannayan Riley Ruvalcaba Syndrome

    3 members

    Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

  • Banti's Syndrome


    Banti's Syndrome is a chronic congestive enlargement of the spleen.

  • Bardet-Biedl Syndrome

    7 members

    Bardet-Biedl syndrome (BBS) is an inherited condition that impacts multiple parts of the body and is characterized by a wide-range of symptoms including progressive visual impairment, ...

  • Bare Lymphocyte Syndrome


    Bare Lymphocyte Syndrome is a form of severe combined immunodeficiency caused by deficiencies in major histocompatibility.

  • Baroreflex Failure

    3 members

    Baroreflex Failure is a disorder characterized by change of blood pressure with episodes of severe hypertension.

  • Barre-Lieou Syndrome

    2 members

    Barre-Lieou Syndrome is a rare disorder characterized by trauma or arthritic changes involving the third and fourth cervical vertebrae or cervical disk lesions with provocation of the cranial nuclei.

  • Barrett's Esophagus

    3 members

    Barrett's Esophagus is an abnormal change in the cells of the esophagus caused by stomach acid.

  • Barth Syndrome

    2 members

    Barth syndrome is a rare, genetic, neuromuscular and metabolic disorder occurring primarily in males. The disorder affects multiple systems of the body including the immune system, heart, and sk...

  • Bartter Syndrome

    4 members

    Bartter Syndrome is a rare genetic disordercharacterized by low potassium levels and decreased acidity of blood.

    Expanded Description: 

    Bartter syndrome is a gene...

  • Batten Disease

    2 members

    Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop prog...

  • Bazex–Dupré–Christol Syndrome

    1 members

    Bazex–Dupré–Christol Syndrome is a disease of the hair follicle, exhibiting milia, and basal cell cancer during the second decade.

  • Beals-Hecht Syndrome

    8 members

    Beals-Hecht Syndrome is a genetic disorder similar to Marfan's Syndrome that affects connective tissue.


  • Beckwith-Wiedemann Syndrome

    8 members

    Beckwith-Wiedemann Syndrome is a congenial disorder characterized by an increased risk of childhood cancer and certain features including a large tongue, abdominal wall defects and low blood sugar.

  • Behcet's Disease

    18 members

    Behçet’s disease is an autoimmune inflammatory condition affecting many parts of the body, most commonly including the mouth, skin, eyes, joints and gen...

  • Behr's Syndrome

    2 members

    Behr's Syndrome is a rare genetic disorder characterized by partial and increasing loss of vision.

  • Benign Osteopetrosis

    2 members

    Osteopetrosis is a rare inherited disorder in which the bones harden.

  • Bent Spine Syndrome

    1 members

    Bent Spine Syndrome is the abnormal bending of the back.

  • Best Disease

    5 members

    Best Disease is a rare genetic eye disease affecting the retina, causing progressive vision loss.

  • Bilateral Choroid Plexus Cysts

    1 members

    Bilateral Choroid Plexus Cysts are cysts that occur on both sides of the choroid plexus within the brain.

  • Bilateral Diaphragmatic Paralysis

    7 members

    Bilateral Diaphragmatic Paralysis is a rare condition characterized by profound abnormalities of pulmonary and respiratory muscle function.

  • Bilateral Renal Agenesis

    2 members

    Bilateral Renal Agenesis is a rare genetic disorder characterized by the absence of both kidneys at birth.

  • Bilateral Vestibular Paresis

    1 members

    Bilateral Vestibular Paresis results from a loss of the connection of the semicircular canals to the brain resulting in a loss of balance.

  • Biotinidase Deficiency

    2 members

    Biotinidase deficiency is a genetic disorder in which the body is not able to process biotin properly.

  • Birdshot Chorioretinopathy

    136 members

    Birdshot Chorioretinopathy is a rare progressive condition characterized by vitritis (inflammation) and multiple ovoid spots, which are typically orange in colour and hypopigmented, in the eye. ...

  • Birt-Hogg-Dube Syndrome

    11 members

    Birt-Hogg-Dube syndrome (BHD) is a rare inherited disorder that affects the skin and increases the risk of pneumothorax and kidney tumors.

  • Bladder Exstrophy

    10 members

    Bladder Exstrophy is a rare congenital disorder characterized by a variety of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.


  • Blastic Plasmacytoid Dendritic Cell Neoplasm

    59 members

    Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare cancer that affects certain cells of the immune system called dendritic cells. The immune system is the natural defense of the body...

  • Blau Syndrome

    8 members

    Blau Syndrome is a rare autosomal dominant disorder characterized by granulomatous polyarthritis, panuveitis, cranial neuropathies and exanthema.

  • Blepharophimosis Syndrome

    11 members

    Blepharophimosis Syndrome is a rare disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.

  • Blepharospasm

    5 members

    Blepharospasm is an uncontrolled tic or twitch of the eyelid.

  • Bloom's Syndrome

    1 members

    Bloom's Syndrome is a rare disorder characterized by rearrangements in an affected person's chromosomes.

  • Blount's Disease

    9 members

    Blount's Disease is a growth disorder of the tibia (shin bone) that causes the lower leg to angle inward.

  • Blue Rubber Bleb Nevus Syndrome

    2 members

    Blue Rubber Bleb Nevus Syndrome is a rare disorder characterized by abnormal blood vessels affecting the gastrointestinal tract.

  • Botulism

    1 members

    Botulism is a rare illness caused by the bacterium Clostridium botulinum.

  • BPTF Haploinsufficiency

    1 members

    Haploinsufficiency of the Chromatin Remodeler BPTF
    Causes Syndromic Developmental and Speech Delay,
    Postnatal Microcephaly, and Dysmorphic Features

  • Brachydactylia

    4 members

    Brachydactylia describes the abnromal shortness of fingers and toes.

  • Branchio-Oto-Renal Syndrome

    4 members

    Branchio-Oto-Renal Syndrome is a rare genetic disorder involving the kidneys, ears, and neck.

  • Brown-Sequard Syndrome

    5 members

    Brown-Sequard Syndrome is a rare disorder characterized by a loss of motor function and sensation caused by the lateral hemisection of the spinal cord.

  • Brown-Vialetto-Van Laere Syndrome

    1 members

    Brown-Vialetto-Van Laere Syndrome is a rare neurological disorder characterized by deafness and paralysis of the muscles of the face, neck, shoulders and limbs.

  • Brugada syndrome

    1 members

    Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death.

  • Budd-Chiari Syndrome

    7 members

    Budd-Chiari syndrome is a rare disorder characterized by the blockage of the veins that transport the blood out from the liver. As a consequence, the blood flow is blocked and the blood accumula...

  • Buerger's Disease

    6 members

    Buerger's Disease is a rare disorder characterized by acute inflammation and thrombosis of arteries and veins of the hands and feet.

  • Bullous Pemphigoid

    2 members

    Bullous Pemphigoid is a rare skin disorder characterized by the formation of blisters between the skin layers epidermis and dermis.

  • Burkitt Lymphoma

    1 members

    Burkitt Lymphoma is a rare cancer of the lymphatic system.

  • Burning Mouth Syndrome

    14 members

    Burning Mouth Syndrome is a rare disorder characterized by a burning or tingling sensation on the lips, tongue or mouth.

  • Buschke Ollendorff Syndrome

    6 members

    Buschke Ollendorf Syndrome is a rare hereditary disorder of connective tissue.