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For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… many human diseases have a genetic component. some of these conditions are under … human genome research institute (nhgri). … this list of genetic, orphan and rare diseases is provided for … in the dna sequence away from the normal sequence. genetic disorders can be caused by a mutation in one gene (monogenic …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with adhd may also have learning disabilities, behavioral disorders or disorders of mood such as depression or anxiety. … with adhd. research has shown that adhd can have a genetic basis, which means that it is likely that a person …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… tay-sachs disease is a fatal genetic disorder that results in progressive destruction of … the nervous system. … tay-sachs disease (tsd) is a fatal genetic disorder , most commonly occurring in children, that … progressive destruction of the nervous system. … genetic disorders
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… autosomal dominant polycystic kidney disease (pkd) is a genetic disorder characterized by the growth of numerous … and in all races. polycystic kidney disease (pkd) is a genetic disorder characterized by the growth of numerous … urology cure foundation national organization for rare disorders genetic and rare disease information center finding …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … or no apparent trauma. … osteogenesis imperfecta (oi) is a genetic disorder that causes a person's bones to break … easily, often from little or no apparent trauma. … genetic disorders
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… neurofibromatosis is a genetic neurological disorder that can affect the brain, … cord, nerves and skin. … neurofibromatosis (nf) is a genetic neurological disorder that can affect the brain, … affect the brain, spinal cord, nerves and skin. … genetic disorders
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. inborn errors of metabolism (iem) are a group of disorders that causes a block in a metabolic pathway leading … but they may also occur spontaneously. when discussing how genetic conditions are passed on in a family, it is important …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… usually diagnosed in people between the ages of 20 - 30. … genetic disorders
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… believe that ds results from a disturbance - either by genetic or environmental factors - during embryonic … is a rare, congenital eye movement disorder . … genetic disorders
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… sickle cell disease is a group of inherited red blood cell disorders . … sickle cell disease is the most common … the disorder from both parents. when both parents have the genetic defect, there's a 25 percent chance that each child …