Autosomal dominant macrothrombocytopenia is a rare inherited disorder characterized by abnormally large platelets in the blood. It is caused by a mutation in the MYH9 gene, which is responsible for the production of a protein involved in the forma...

Autosomal dominant mitochondrial myopathy with exercise intolerance is a rare genetic disorder that affects the muscles and causes them to become weak and easily fatigued. It is caused by a mutation in the mitochondrial DNA, which is passed down f...

Autosomal dominant multiple pterygium syndrome (ADMPS) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by a mutation in the gene that codes for th...

Autosomal dominant myoglobinuria is a rare inherited disorder that affects the muscles. It is caused by a mutation in the myoglobin gene, which is responsible for producing the protein myoglobin. People with this disorder experience episodes of mu...

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome (ADMMSRD) is a rare genetic disorder characterized by myopia (nearsightedness), midfacial retrusion (underdevelopment of the midface), sensorine...

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic disorder that affects the eyes. It is characterized by inflammation of the retina and vitreous, as well as the formation of abnormal blood vessels in the eye. ...

Autosomal dominant omodysplasia is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein omodysplasin, which is involved in the developme...

Autosomal dominant optic atrophy and cataract is a rare genetic disorder that affects the eyes. It is caused by a mutation in the OPA1 gene, which is responsible for the production of a protein that helps maintain the structure of the mitochondria...

Autosomal dominant optic atrophy and peripheral neuropathy (ADOPN) is a rare genetic disorder characterized by progressive vision loss due to optic nerve damage, as well as peripheral nerve damage that can cause numbness, tingling, and muscle weak...

Autosomal dominant optic atrophy plus syndrome (ADOAP) is a rare genetic disorder characterized by progressive vision loss due to optic nerve damage, as well as other neurological and physical abnormalities. It is caused by mutations in the OPA1 g...

Autosomal dominant optic atrophy, classic form (ADOA-CF) is a rare inherited disorder that affects the optic nerve, which carries visual information from the eye to the brain. It is characterized by progressive vision loss, usually beginning in ch...

Autosomal dominant osteopetrosis type 1 (ADO1) is a rare genetic disorder that affects the bones. It is caused by a mutation in the TCIRG1 gene, which is responsible for the production of a protein that helps to regulate the activity of osteoclast...

Autosomal dominant otospondylomegaepiphyseal dysplasia (AD-OSMED) is a rare genetic disorder that affects the development of bones and cartilage in the body. It is characterized by hearing loss, short stature, and skeletal abnormalities. The heari...

Autosomal dominant palmoplantar keratoderma and congenital alopecia is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and hair loss at birth (congenital alopecia). This...

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder that causes cysts to form in the kidneys. These cysts can grow and eventually cause the kidneys to become enlarged and damaged. ADPKD can also cause cysts to form in other ...

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (ADPKD1-TSC) is a rare genetic disorder that is caused by a mutation in the PKD1 gene. It is characterized by the growth of multiple cysts in the kidneys, as well as the d...

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic disorder characterized by webbing of the skin between the back of the knee and the ankle (popliteal pterygium), as well as other physical abnormalities. It is caused by a m...