Disease Directory

Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome is an extremely rare condition. Because few cases have been documented, d...

Blepharophimosis-epicanthus inversus-ptosis due to copy number variations is an extremely rare condition. Because few cases have been documented, deta...

Blepharophimosis-impaired intellectual development syndrome is a condition that primarily affects neurological development and specific facial feature...

blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome is an extremely rare condition. Because few cases have been document...

Blepharophimosis-ptosis-epicanthus inversus syndrome plus is characterized by a combination of ocular and facial features, including telecanthus, ptos...

blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical...

blepharophimosis-ptosis-epicanthus inversus syndrome type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical...

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the presence of blepharophimosis, ptosis, V-esotropia, and wea...

Blepharoptosis-myopia-ectopia lentis syndrome is characterized by bilateral congenital blepharoptosis (drooping of the eyelids), high myopia (severe n...

Blepharospasm-oromandibular dystonia syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Blindness - scoliosis - arachnodactyly syndrome is characterized by progressive visual loss, scoliosis or kyphoscoliosis, and arachnodactyly affecting...

Blood coagulation disease is a condition in which the normal clotting properties of the blood are altered, potentially leading to abnormal bleeding or...

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

Blood platelet disease refers to a group of disorders caused by problems with the count or function of blood platelets, which are important for helpin...

Blue color blindness, or tritanopia, is an extremely rare form of color vision deficiency caused by variants in the OPN1SW gene. This condition is inh...

Blue cone monochromacy is an inherited disorder affecting the vision, where the red and green cone photoreceptors do not function properly. Variants i...

Blue Diaper Syndrome is a hereditary metabolic disorder characterized by hypercalcemia, nephrocalcinosis, and indicanuria. It is inherited in an autos...

Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder characterized by the presence of cutaneous and visceral lesions. These lesions...

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

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is an inherited connective-tissue and bleeding disorder that mainly inv...