Disease Directory

Baller-Gerold syndrome is a rare genetic condition that is primarily characterized by the early fusion of skull bones (coronal craniosynostosis) along...

Balo concentric sclerosis is a rare variant of multiple sclerosis. It is marked by the presence of a large, tumor-like lesion that is usually more tha...

Bamforth-Lazarus syndrome is a very rare condition that mainly features congenital hypothyroidism due to thyroid dysgenesis, most often seen as athyre...

Bangstad syndrome is a rare endocrine condition that was first described over 30 years ago. It is noted for a unique combination of features including...

Banki syndrome is a rare condition described in a single Hungarian family affecting multiple generations. People with this condition showed abnormal b...

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by several key features including hamartomatous intestinal polypo...

Baraitser-Winter cerebrofrontofacial syndrome is a rare malformation syndrome that affects multiple parts of the body. It is marked by distinctive fac...

Baraitser-Winter syndrome 1 is a rare condition that is classified as a Baraitser-Winter cerebrofrontofacial syndrome caused by a mutation in the ACTB...

Baraitser-Winter syndrome 2 is a form of Baraitser-Winter cerebrofrontofacial syndrome. This condition is specifically caused by a mutation in the ACT...

Barber-Say syndrome is a rare condition that affects the skin and hair. It is a type of ectodermal dysplasia that starts in the newborn period. People...

Bardet-Biedl syndrome is a multisystem ciliopathy characterized by rod-cone dystrophy and a constellation of non-ocular features such as intellectual...

Bardet-Biedl syndrome 1 is a rare genetic condition that arises from mutations in both copies of the BBS1 gene. This gene is located on chromosome 11...

Bardet-Biedl syndrome 10 is a rare genetic condition that is part of the Bardet-Biedl syndrome family. It is caused by a mutation in the BBS10 gene. T...

Bardet-Biedl syndrome 11 is a rare form of Bardet-Biedl syndrome. It is defined by a mutation in the TRIM32 gene, which is known to be the cause of th...

Bardet-Biedl syndrome 12 is a rare genetic condition caused by mutations in the BBS12 gene. It is part of a group of disorders known as Bardet-Biedl s...

Bardet-Biedl syndrome 13 is a form of Bardet-Biedl syndrome caused by a mutation in the MKS1 gene. This condition is part of a group of disorders know...

Bardet-Biedl syndrome 14 is a condition that falls within a group of disorders known as Bardet-Biedl syndromes. It has a material basis in a homozygou...

Bardet-Biedl syndrome 15 is a rare condition that is part of the Bardet-Biedl syndrome group. This condition is specifically caused by a mutation in t...

Bardet-Biedl syndrome 16 is a rare inherited condition categorized under Bardet-Biedl syndromes. It occurs when there is a mutation in the SDCCAG8 gen...

Bardet-Biedl syndrome 17 is a rare genetic condition that is part of the Bardet-Biedl syndrome group. This particular type is caused by a mutation in...