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Genetic and Rare Diseases Information Center (GARD) – an

Details: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI).

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Diseases | Genetic and Rare Diseases Information Center

Details: GARD maintains a list of rare diseases and related terms to help people find reliable information. In the United States, a rare disease is defined as one that affects fewer than 200,000 people.

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Healthcare Professionals | Genetic and Rare Diseases

Details: On the GARD website you can also find guides with tips on general topics, important resources, and answers to health care professionals’ commonly asked questions. We appreciate feedback about these guides and resources and encourage you to make a suggestion. Guides for Healthcare Professionals: Caring for Your Patient with a Rare Disease.

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Browse A-Z | Genetic and Rare Diseases Information Center

Details: U.S. Department of Health & Human Services. National Institutes of Health. NCATS. COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)

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Guides | Genetic and Rare Diseases Information Center

Details: If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

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Support for Patients and Families | Genetic and Rare

Details: MyGene2 is an online tool that families, who are interested in sharing their health and genetic information, can use to connect with other families, clinicians, and researchers. RareConnect has online communities for patients and families with rare medical conditions so they can connect with others and share their experiences.

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Tips for the Undiagnosed | Genetic and Rare Diseases

Details: The National Organization for Rare Disorders (NORD) provides information on financial and medication assistance programs, health insurance, medicare/medicaid programs, and links to additional online resources. Most of these resources are available only to individuals in the United States.

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› Url: https://rarediseases.info.nih.gov/guides/pages/24/tips-for-the-undiagnosed Go Now

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Heavy metal poisoning | Genetic and Rare Diseases

Details: The Merck Manual for health care professionals provides information on Heavy metal poisoning. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different

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Acute flaccid myelitis | Genetic and Rare Diseases

Details: MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. In-Depth Information PubMed is a searchable database of medical literature and lists journal articles that discuss Acute flaccid myelitis.

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› Url: https://rarediseases.info.nih.gov/diseases/13142/acute-flaccid-myelitis Go Now

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Schizencephaly | Genetic and Rare Diseases Information

Details: The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Orphanet lists international laboratories offering diagnostic testing for this condition.

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› Url: https://rarediseases.info.nih.gov/diseases/166/schizencephaly Go Now

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Trisomy 13 | Genetic and Rare Diseases Information Center

Details: MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Genetics Home Reference (GHR) contains information on Trisomy 13. This website is maintained by the National Library of Medicine.

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MTHFR gene variant | Genetic and Rare Diseases Information

Details: Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. MTHFR is a part of pathways acted on by certain drugs, making it a gene of research interest.

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RaDaR - Rare Diseases Registry Program

Details: The Rare Diseases Registry (RaDaR) Program, formerly known as the Global Rare Diseases Registry Data Repository (GRDR) program, aims to provide easily accessible advice for constructing and maintaining good-quality rare disease patient registries to enable therapeutics development.

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Familial hemophagocytic lymphohistiocytosis | Genetic and

Details: It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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› Url: https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis Go Now

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Mastocytosis | Genetic and Rare Diseases Information

Details: The Merck Manual for health care professionals provides information on Mastocytosis. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases

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FAQs About Rare Diseases | Genetic and Rare Diseases

Details: The National Institutes of Health (NIH) supports research to improve the health of people with rare diseases. Many of the 27 Institutes and Centers at the NIH fund medical research for rare diseases. One of these Centers, the National Center for Advancing Translational Sciences (NCATS), focuses on getting new cures and treatments to all

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Maple syrup urine disease | Genetic and Rare Diseases

Details: MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. MedlinePlus Genetics contains information on Maple syrup urine disease. This website is maintained by the National Library of Medicine.

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› Url: https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease Go Now

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Dravet syndrome | Genetic and Rare Diseases Information

Details: A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet

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› Url: https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome Go Now

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Addison's disease | Genetic and Rare Diseases Information

Details: The Merck Manual for health care professionals provides information on Addison's disease. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different

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› Url: https://rarediseases.info.nih.gov/diseases/5740/addisons-disease Go Now

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Cerebral cavernous malformation | Genetic and Rare

Details: Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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› Url: https://rarediseases.info.nih.gov/diseases/1204/cerebral-cavernous-malformation Go Now

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Metabolic disorders | Genetic and Rare Diseases

Details: U.S. Department of Health & Human Services. National Institutes of Health. NCATS. COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)

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Lipedema | Genetic and Rare Diseases Information Center

Details: Lipedema is a disorder characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin. It is a common condition, occurring almost exclusively in women (affecting up to 11% of women). The cause of lipedema is unknown; however, there is evidence of hormonal and hereditary influences.

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› Url: https://rarediseases.info.nih.gov/diseases/10542/lipedema Go Now

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Duchenne muscular dystrophy | Genetic and Rare Diseases

Details: A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet

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› Url: https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy Go Now

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Tay-Sachs disease | Genetic and Rare Diseases Information

Details: MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. Genetics Home Reference (GHR) contains information on Tay-Sachs disease. This website is maintained by the National Library of Medicine.

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› Url: https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease Go Now

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Osteopetrosis | Genetic and Rare Diseases Information

Details: The intended audience for the GTR is health care professionals and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Click on the link above to view the information that the GTR provides about genetic testing for osteopetrosis.

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Arthrogryposis multiplex congenita | Genetic and Rare

Details: The Merck Manual for health care professionals provides information on Arthrogryposis multiplex congenita. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes

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Herpes simplex encephalitis | Genetic and Rare Diseases

Details: Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness.Without early diagnosis and treatment, severe brain damage or even

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› Url: https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis Go Now

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Gilbert syndrome | Genetic and Rare Diseases Information

Details: Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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Conversion disorder | Genetic and Rare Diseases

Details: Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the body’s reaction to a stressful

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Ehlers-Danlos syndromes | Genetic and Rare Diseases

Details: The Merck Manual for health care professionals provides information on Ehlers-Danlos syndromes. MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.

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› Url: https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes Go Now

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Nervous System Diseases | Genetic and Rare Diseases

Details: U.S. Department of Health & Human Services. National Institutes of Health. NCATS. COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)

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Duane syndrome | Genetic and Rare Diseases Information

Details: It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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Prader-Willi syndrome | Genetic and Rare Diseases

Details: Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese.Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive

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Achondroplasia | Genetic and Rare Diseases Information

Details: Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence.Achondroplasia can cause health complications such as interruption of breathing (), obesity, recurrent ear

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Evans syndrome | Genetic and Rare Diseases Information

Details: A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet

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Tips for Finding Financial Aid | Genetic and Rare Diseases

Details: Family Voices aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities. Family Voices has a map to help you find the Family-to-Family Health Information Center in your state. You can contact them directly at 888-835-5669.

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Amelogenesis imperfecta | Genetic and Rare Diseases

Details: Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth.This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss.

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Morgellons | Genetic and Rare Diseases Information Center

Details: U.S. Department of Health & Human Services. National Institutes of Health. NCATS. COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)

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Fetal Health Foundation | Genetic and Rare Diseases

Details: If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

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Rumination disorder | Genetic and Rare Diseases

Details: Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

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Complex regional pain syndrome | Genetic and Rare Diseases

Details: Complex regional pain syndrome (CRPS) is a chronic pain condition that mainly affects the arms, legs, hands, and feet, but may involve the entire body. CRPS symptoms often begin after surgery or an injury. The main feature of CRPS is continuous, intense pain that is out of proportion to the severity of the injury.

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About GARD | Genetic and Rare Diseases Information Center

Details: The Genetic and Rare Diseases (GARD) Information Center is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by two parts of the National Institutes of Health (NIH): NCATS and the National Human Genome Research Institute (NHGRI).

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X-linked adrenoleukodystrophy | Genetic and Rare Diseases

Details: X-linked adrenoleukodystrophy (X-ALD) is a genetic disease that affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disease often have progressive loss of the fatty covering (myelin) that surrounds the nerves in the brain and spinal cord.They may also have a shortage of certain hormones that is caused by damage to the outer layer of

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› Url: https://rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy Go Now

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Goldenhar disease | Genetic and Rare Diseases Information

Details: Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear () or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities.

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Finding Funding Opportunities | Genetic and Rare Diseases

Details: Medical research funding is essential for developing new diagnostic tests and treatments for rare diseases, but it can be difficult to learn about funding opportunities. The following list of resources can help medical researchers find funding sources from the National Institutes of Health (NIH) and advocacy organizations.

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Fatal familial insomnia | Genetic and Rare Diseases

Details: Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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Cushing's syndrome | Genetic and Rare Diseases Information

Details: Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish

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› Url: https://rarediseases.info.nih.gov/diseases/6224/cushings-syndrome Go Now

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Huntington disease | Genetic and Rare Diseases Information

Details: Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems.

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Vascular Ehlers-Danlos syndrome | Genetic and Rare

Details: Vascular Ehlers-Danlos syndrome is typically caused by a change (mutation) in the COL3A1 gene.Rarely, it may be caused by a mutation in the COL1A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such

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› Url: https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome Go Now

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