Autosomal dominant omodysplasia is a very rare genetic bone growth disorder passed down in an autosomal dominant pattern. It affects how the long bone...

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

Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is characterized by progressive visual loss typically beginning in early childhood...

Autosomal dominant optic atrophy, classic form, is an inherited eye disorder in which damage to the optic nerves causes progressive loss of vision, us...

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) characterized by optic atrophy acco...

Autosomal dominant osteopetrosis is a rare bone disorder characterized by the abnormal density of bones due to impaired osteoclast function, leading t...

Autosomal dominant osteopetrosis 1 is a sclerosing bone disorder that primarily affects the cranial vault, leading to increased bone density. This con...

Autosomal dominant osteopetrosis 2 is a sclerosing disorder of the skeleton characterized by abnormally dense bones and the classic radiographic findi...

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 Parkinson disease 1 is a neurological disorder that primarily affects movement and motor control. It is associated with alterations...

Autosomal dominant Parkinson disease 4 (PARK4) is a late-onset form of Parkinson's disease caused by a heterozygous triplication of the SNCA gene loca...

Autosomal dominant Parkinson disease 8 is a form of Parkinson's disease caused by mutations in the LRRK2 gene. This condition follows an autosomal dom...

Autosomal dominant polycystic kidney disease (ADPKD) is a condition that primarily affects the kidneys, leading to the development of numerous cysts a...

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...