Disease Directory

Brachydactyly type E2 is a condition characterized by abnormalities in the development of the fingers and toes, with some individuals also experiencin...

brachydactyly, type E, with atrial septal defect, type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical inf...

Brachydactyly-arterial hypertension syndrome is a very rare genetic disorder that primarily affects skeletal development and the vascular system. Indi...

Brachydactyly-elbow wrist dysplasia syndrome is a rare genetic disorder characterized by dysplasia of the elbow joint and abnormal carpal bone shapes,...

Brachydactyly-long thumb syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is an extremely rare condition. Because few cases have been documented, detaile...

Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by three primary features: brachydactyly (shortened fingers and toes), nystagmus (...

Brachydactyly-preaxial hallux varus syndrome is characterized by the combination of hallux varus, short thumbs, and first toes, with the affected digi...

Brachydactyly-syndactyly syndrome, Zhao type, is characterized by brachydactyly type A4, which involves short middle phalanges of the 2nd and 5th fing...

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

Brachyolmia type 1, Hobaek type, is characterized by an autosomal recessive inheritance pattern. This condition is marked by disproportionate short-tr...

Brachyolmia type 1, Toledo type is characterized by an autosomal recessive inheritance pattern. While a clinical definition is not available, the cond...

Brachyolmia, Maroteaux type, is classified as an autosomal recessive skeletal disorder characterized by short trunk and short stature, along with gene...

Brachyolmia-amelogenesis imperfecta syndrome is a very rare genetic condition caused by changes in the LTBP3 gene. It affects bone and dental developm...

Brachytelephalangy-dysmorphism-Kallmann syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Bradyopsia is an extremely rare condition characterized by prolonged electroretinal response suppression, leading to difficulties adjusting to changes...

Brain astrocytoma is a type of central nervous system cancer that arises from astrocytes, the supportive cells in the brain. It is distinguished from...

Brain dopamine-serotonin vesicular transport disease is an infantile-onset neurometabolic condition that mainly affects the nervous system and the bod...

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

Brain glioblastoma is a high-grade malignant tumor of the brain that arises from astrocytes, the supportive cells in the central nervous system. It is...