Disease Directory

Familial primary localized cutaneous amyloidosis is a skin disorder characterized by localized amyloid deposits that can lead to changes in skin textu...

Familial prostate carcinoma is a form of prostate cancer that occurs in families with a history of the disease. It is characterized by its occurrence...

Familial pseudohyperkalemia is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis characterized by a temperature-dependent increas...

Familial pterygium of the conjunctiva is a rare ocular condition characterized by a wing-like thickening of the bulbar conjunctiva in the area between...

Familial recurrent peripheral facial palsy is a condition characterized by repeated episodes of facial weakness due to temporary dysfunction of the pe...

Familial renal glucosuria is a kidney condition characterized by the persistent presence of glucose in the urine despite normal blood sugar levels. Th...

Familial restrictive cardiomyopathy is an inherited heart condition in which the walls of the heart become stiff, impairing the heart’s ability to fil...

Familial rhabdoid tumor is a highly aggressive neoplastic syndrome that most often presents in infancy and early childhood, primarily affecting the ce...

Familial scaphocephaly syndrome is a condition that is recognized for its impact on skull development. Although detailed clinical descriptions are not...

Familial scaphocephaly syndrome, McGillivray type is a rare craniosynostosis syndrome that primarily affects the skull, leading to an abnormally shape...

Familial severe combined immunodeficiency is a condition that primarily affects the immune system, leading to significant vulnerability to infections...

Familial sick sinus syndrome is a rare cardiac rhythm disorder that affects the heart’s electrical conduction system. It is characterized by irregular...

Familial sleep-related hypermotor epilepsy is a form of epilepsy that primarily manifests during sleep with distinctive motor phenomena. This conditio...