Disease Directory

Information about overview is currently limited for this condition.

Bethlem myopathy 2 is a rare inherited condition that affects the muscles and sometimes the connective tissues. It is linked to changes in the COL12A1...

Bicervical bicornuate uterus and blind hemivagina is a rare congenital condition. The name suggests that there may be differences in the normal develo...

Information about overview is currently limited for this condition.

Bickerstaff brainstem encephalitis is a rare neurological condition that often appears after an infection. It affects the brainstem, the area that con...

Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder that has been reported in a very small number of patients. The...

Bietti crystalline corneoretinal dystrophy is a rare, progressive tapetoretinal degeneration that primarily affects the eyes. It is caused by pathogen...

Binder syndrome is a rare developmental condition that primarily affects the front part of the upper jaw (maxilla) and the nasal complex. This conditi...

Birk-Barel syndrome is an inherited condition that mainly affects brain development and muscle tone. People with this condition may show intellectual...

Birt-Hogg-Dube syndrome 1 is a rare condition caused by variations in the FLCN gene. It is also known by other names such as Hornstein-Knickenberg syn...

Bjornstad syndrome is a rare genetic disorder characterized mainly by congenital sensorineural hearing loss and structural changes in the hair known a...

Blake pouch cyst is a usually benign, cystic malformation found in the back part of the brain. It occurs when a part of the brain's early structure, t...

Blau syndrome is a rare systemic inflammatory condition that primarily affects children, presenting with early onset granulomatous arthritis, uveitis,...

Bloom syndrome is a rare chromosomal breakage syndrome that leads to marked genetic instability. People with this condition often experience growth re...

Blount disease is a condition marked by disturbed growth in the inner portion of the upper tibia, which gradually leads to a bowlegged deformity. The...

Blount disease, adolescent is a rare condition that has been noted in medical classifications with identifiers such as OMIM:259200 and GARD:15217. It...

Blount disease, infantile is a rare orthopedic condition that impacts the growth of the tibia, leading to a progressive bowing of the leg. It is also...

Bockenheimer syndrome, also known as genuine diffuse phlebectasia, is a rare condition recognized by medical resources like Orphanet and GARD. Detaile...

Bohring-Opitz syndrome is a complex developmental condition that affects many body systems, especially growth and neurological development. Pathogenic...

Bolivian hemorrhagic fever, also known as Machupo hemorrhagic fever, is a severe acute viral disease caused by the Machupo virus. People with this con...