Disease Directory

Beta-thalassemia HBB/LCRB is a condition characterized by abnormal clinical manifestations that result from changes in the gene responsible for beta-g...

beta-thalassemia and related diseases is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited...

Beta-thalassemia intermedia (BTI) is a form of beta-thalassemia characterized by mild to moderate anemia that may not require regular blood transfusio...

Beta-thalassemia major is a severe form of beta-thalassemia characterized by significant anemia that necessitates regular red blood cell transfusions....

Beta-thalassemia-X-linked thrombocytopenia syndrome is a blood disorder affecting red blood cells and platelets, characterized by features of mild bet...

Beta-ureidopropionase deficiency is an inborn error of pyrimidine metabolism that affects how the body breaks down the nucleic acid building blocks ur...

Bicipital tenosynovitis is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bicornuate uterus is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bifid nose is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bifid nose, autosomal dominant is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

bifid nose, autosomal recessive is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. It is inherited in an autosomal dominant pattern, meanin...

Bilateral acute depigmentation of the iris is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

bilateral diffuse uveal melanocytic proliferation disease is an extremely rare condition. Because few cases have been documented, detailed clinical in...

Bilateral frontal polymicrogyria is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bilateral frontoparietal polymicrogyria (BFPP) is a congenital brain malformation that primarily affects the cerebral cortex and cerebellum, leading t...

Bilateral generalized polymicrogyria is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bilateral massive adrenal hemorrhage is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bilateral meningioma of optic nerve is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Bilateral microtia–deafness–cleft palate syndrome is a developmental condition that primarily affects formation of the outer ear, hearing capability,...