Disease Directory

Bartsocas-Papas syndrome 1 is a rare genetic condition that affects many parts of the body. People with this condition may have severe webbing behind...

Bartsocas-Papas syndrome 2 is a very rare genetic condition. Detailed descriptions of the condition are not widely available in the medical literature...

Bartter disease type 1 is a rare genetic condition that affects kidney function. It is known by several names including Bartter syndrome, furosemide t...

Bartter disease type 2 is a rare genetic condition that is caused by a mutation in the KCNJ1 gene. This condition falls under the category of Bartter...

Classic Bartter syndrome is a form of Bartter syndrome that generally presents with a milder clinical picture compared to its antenatal/infantile subt...

Bartter disease type 4A is a rare form of Bartter syndrome that is caused by a mutation in the BSND gene. This condition is one of several types of Ba...

Bartter disease type 4B is a rare inherited disorder that arises from mutations in two specific genes: CLCNKA and CLCNKB. These genes play a key role...

Bartter disease type 5 is a form of Bartter syndrome caused by a mutation in the MAGED2 gene. It is classified under a group of rare conditions that a...

Bartter syndrome is a group of rare kidney disorders where the kidneys do not properly reabsorb salt in a part of the kidney called the thick ascendin...

Bartter syndrome type 4 is a rare condition that affects the kidneys and is also linked to hearing loss. This condition is marked by problems such as...

Bartter syndrome with hypocalcemia is a rare form of Bartter syndrome. It is characterized by low levels of calcium (hypocalcemia), low levels of magn...

Basilicata-Akhtar syndrome is a rare condition with a genetic basis. It is also known by several other names, including X-linked dominant forms and sy...

Batten-Turner congenital myopathy is a congenital muscle condition. In one reported family of six siblings, children showed signs similar to amyotonia...

Bazex-Dupre-Christol syndrome is a rare inherited skin condition. It is known as a genodermatosis, meaning it primarily affects the skin. People with...

Bazopoulou Kyrkanidou syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Beare-Stevenson cutis gyrata syndrome is a severe condition where the bones of the skull fuse too early (a condition known as craniosynostosis). Over...

Beck-Fahrner syndrome is a multisystem neurodevelopmental disorder that primarily affects early developmental milestones such as motor and speech skil...

Becker muscular dystrophy (BMD) is a neuromuscular disorder characterized by progressive muscle wasting and weakness that affects skeletal, smooth, an...

Becker nevus syndrome is a condition where a skin lesion known as a Becker nevus is found along with other physical differences that can affect the sk...

Beckwith-Wiedemann syndrome (BWS) is a genetic condition that mainly affects growth and development. People with this condition may experience overgro...