Disease Directory

BBS12-related ciliopathy is a condition caused by changes in the BBS12 gene. This gene plays a role in the function of cilia, which are small hair-lik...

BBS2-related ciliopathy is a condition caused by changes in the BBS2 gene. It is part of a group of disorders known as ciliopathies, which are conditi...

BBS4-related ciliopathy is a condition that occurs due to variants in the BBS4 gene. Conditions in the ciliopathy group affect the function or structu...

BBS5-related ciliopathy is a condition that falls under the ciliopathies, a group of disorders affecting the structure and function of cellular cilia....

BBS7-related ciliopathy is a rare condition caused by changes in the BBS7 gene. This gene plays an important role in the functioning of cilia, which a...

BBS9-related ciliopathy is a condition that arises from changes (variants) in the BBS9 gene. This form of ciliopathy affects the tiny hair-like struct...

BDV syndrome, also known as CPE-related Prader-Willi-like syndrome, is a rare condition that has been catalogued in medical databases like OMIM and Or...

BENTA disease is a very rare congenital immune deficiency disorder that affects the body’s ability to fight infections. It is characterized by an abno...

BEST1-related dominant retinopathy is a rare condition that affects the retina, the light-sensitive tissue at the back of the eye. This condition is c...

BEST1-related recessive retinopathy is a type of retinopathy that occurs when both copies of the BEST1 gene have variants. This condition falls under...

BEST1-related vitreoretinochoroidopathy is a rare eye condition affecting the vitreous, retina, and choroid. It is caused by a change in one copy of t...

BH4-deficient hyperphenylalaninemia A is an inherited metabolic condition that primarily affects neurological function and motor development. It is ca...

BMPR1A-related juvenile polyposis syndrome is an inherited disorder caused by changes in the BMPR1A gene. This condition is passed down in an autosoma...

BN2 diffuse large B-cell lymphoma is a type of cancer that affects the lymphatic system. It is categorized as BN2 by the LymphGen algorithm, which use...

BNAR syndrome is a very rare congenital condition characterized by a bifid nose with a bulbous nasal tip and, in some cases, associated anorectal defe...

BRCA1-related cancer predisposition is a hereditary condition caused by changes in the BRCA1 gene. These changes increase the risk of developing certa...

BRCA2-related cancer predisposition is a hereditary condition that increases the risk of developing cancer caused by changes in the BRCA2 gene. These...

BRESEK syndrome is a complex condition that affects several parts of the body. It is characterized by a range of abnormalities that include brain anom...

Bailey-Bloch congenital myopathy is a neuromuscular disorder that affects muscle strength and movement. People with this condition often experience we...

Balint syndrome is a rare neurological condition that mainly affects how people process visual information. It is characterized by a combination of th...