Disease Directory

Autosomal dominant osteosclerosis, Worth type is a condition characterized by a generalized increase in bone density, most affecting the skull and lon...

Autosomal dominant palmoplantar keratoderma and congenital alopecia is a rare inherited skin disorder that primarily affects the hair and the skin on...

Autosomal dominant polycystic kidney disease is a condition where numerous cysts develop in the kidneys, which can lead to progressive kidney dysfunct...

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis is a condition that combines severe, early-onset polycystic kidney disease...

Autosomal dominant polycystic liver disease (ADPLD) is characterized by the presence of multiple cysts of varying sizes throughout the liver. It is as...

Autosomal dominant popliteal pterygium syndrome is a rare genetic disorder that primarily affects facial, oral, and limb development. Individuals with...

autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is an extremely rare condition. Because few cases have been documented, deta...

autosomal dominant primary microcephaly is an extremely rare condition. Because few cases have been documented, detailed clinical information is limit...

Autosomal dominant prognathism, also known as 'Habsburg jaw', is characterized by a malocclusion where the mandible is positioned anterior to the maxi...

Autosomal dominant progressive external ophthalmoplegia is an extremely rare condition. Because few cases have been documented, detailed clinical info...

autosomal dominant progressive nephropathy with hypertension is an extremely rare condition. Because few cases have been documented, detailed clinical...

Autosomal dominant proximal renal tubular acidosis is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

Autosomal dominant pseudohypoaldosteronism type 1, also known as renal PHA1 or PHA1A, is a mild disorder characterized by primary mineralocorticoid re...

Autosomal dominant rhegmatogenous retinal detachment is an extremely rare condition. Because few cases have been documented, detailed clinical informa...

Autosomal dominant sensory ataxia 1 is a hereditary condition that affects the sensory and balance systems, leading to difficulties with coordination...

Autosomal dominant severe congenital neutropenia is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Autosomal dominant sideroblastic anemia is a genetic blood disorder primarily associated with variants in the HSPA9 gene. This condition leads to inef...

Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating neuropathy primarily caused by variants in the ARHGEF10 gene. This c...

Autosomal dominant spastic ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

autosomal dominant spastic paraplegia type 9 is an extremely rare condition. Because few cases have been documented, detailed clinical information is...