Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disease where bones become unusually dense and hard because the bone-resorbing cells (osteoclasts) do not work properly. Even ...
Autosomal dominant Albers-Schönberg disease (ADO2) is a rare, inherited bone disorder where bones become abnormally dense but also more fragile. The problem starts in the bone-eating cells called ...
Albers-Schönberg disease is a rare, inherited bone disorder where bones become too dense because the cells that normally chew up old bone (called osteoclasts) do not work properly. When old bone is ...
Autosomal dominant osteopetrosis type 2 (ADO2) is a rare, inherited bone disorder in which bones become unusually dense but also brittle. The problem comes from osteoclasts, the cells that normally ...
Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome is a genetic, mitochondria-related disorder where the optic nerves slowly waste away (optic atrophy), causing blurred vision and color-vision ...
Autosomal Dominant Optic Atrophy Plus (ADOA+) is a rare, inherited condition in which the optic nerves (the “cables” that carry visual signals from the eyes to the brain) slowly degenerate. People ...
Autosomal dominant nonsyndromic hearing loss 22—short name DFNA22—is a hereditary type of sensorineural hearing loss that usually starts after a child learns to speak (post-lingual), worsens slowly ...
Autosomal dominant non-syndromic intellectual disability (AD-NSID) is a group of genetic conditions where a person has lifelong difficulties with learning, problem-solving, and everyday skills, but ...
Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a focal epilepsy syndrome in which short, sudden seizures with major body movements (called hypermotor seizures) mostly happen during ...
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare type of focal epilepsy where brief, sudden motor (movement) seizures happen mainly during sleep, usually in clusters in the first ...
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) is a rare, inherited eye disease that runs in families in an autosomal dominant pattern. It is caused by damaging changes ...
Autosomal dominant myopia–midfacial retrusion–sensorineural hearing loss–rhizomelic dysplasia syndrome is a very rare, inherited skeletal disorder that affects the eyes, ears, face, chest, and the ...
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome is a very rare, inherited bone and connective-tissue condition. Babies are usually born with ...
Autosomal dominant myoglobinuria means a person inherits (from one parent) a genetic change that makes their muscles more likely to break down during triggers like hard exercise, heat, fasting, ...
Autosomal dominant mitochondrial myopathy with exercise intolerance (AD-MMEI) is a genetic muscle disease where the “power stations” inside muscle cells—mitochondria—do not make energy well. Because ...
Familial juvenile hyperuricemic nephropathy is a rare, inherited kidney disease. It runs in families in an autosomal-dominant way (if a parent has it, each child has a 50% chance). The disease mainly ...
Autosomal dominant medullary cystic kidney disease is a lifelong, inherited kidney condition. “Autosomal dominant” means a parent with the disease has a 50% chance of passing it to each child. The ...
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of inherited kidney conditions that pass from parent to child in an autosomal-dominant pattern (each child has a 50% chance to ...
Autosomal Dominant Tubulointerstitial Cystic Kidney Disease (ADTKD) With or Without Hyperuricemia is a rare, inherited kidney disease that runs in families in an autosomal dominant pattern (each ...
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia is a hereditary kidney disease that runs in families in a dominant pattern (a single faulty gene copy can cause ...
