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Government Programs

Details: The Maternal and Child Health Bureau of the Health Resources and Services Administration strives to ensure equal access to quality health care in a supportive, culturally competent family and community setting. Visit their website to learn more about their programs.

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› Url: https://rarediseases.info.nih.gov/pages/75/government-programs Go Now

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Nonalcoholic steatohepatitis

Details: Nonalcoholic steatohepatitis, or NASH, is a common, often “silent” liver disease.It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol.The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a liver problem.

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6430/nonalcoholic-steatohepatitis Go Now

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Cerebellar degeneration

Details: The Merck Manual for health care professionals provides information on Cerebellar degeneration. 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

› Verified 1 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration Go Now

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Glomerulonephritis Genetic and Rare Diseases Information

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.

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6516/glomerulonephritis Go Now

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Polycythemia vera Genetic and Rare Diseases Information

Details: 46 rows · Polycythemia vera is a condition characterized by an increased number of …

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› Url: https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera Go Now

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Craniopharyngioma Genetic and Rare Diseases Information

Details: 47 rows · MedlinePlus was designed by the National Library of Medicine to help you …

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/10486/craniopharyngioma Go Now

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Chronic lymphocytic leukemia Genetic and Rare Diseases

Details: It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic lymphocytic leukemia.

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6104/chronic-lymphocytic-leukemia Go Now

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Maple syrup urine disease

Details: The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you.

› Verified 3 days ago

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

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Myasthenia gravis Genetic and Rare Diseases Information

Details: Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal muscles. Common symptoms include weakness of the muscles that control the eye and eyelid, facial expressions, chewing, talking, and swallowing. Weakness tends to increase during periods of activity and improve after periods of rest.

› Verified 5 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis Go Now

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Primary orthostatic tremor

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

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor Go Now

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Transverse myelitis

Details: Transverse myelitis is a neurological disorder caused by inflammation of the spinal cord, which carries nerve signals from the brain to the rest of the body. The segment of the spinal cord that has inflammation or damage determines the symptoms a person has. Generally, inflammation at one segment causes symptoms at that level and below that level.

› Verified 7 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7796/transverse-myelitis Go Now

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Pyoderma gangrenosum

Details: Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), …

› Verified 8 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum Go Now

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Spasmodic dysphonia

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.

› Verified 7 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7668/spasmodic-dysphonia Go Now

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Hidradenitis suppurativa

Details: Hidradenitis suppurativa (HS) is a chronic skin disease which causes painful, boil-like lumps that form under the skin and often secrete pus and blood.HS occurs most often in areas where skin rubs together, such as the armpits, groin, and under the breasts. Symptoms usually begin after puberty.

› Verified 2 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6658/hidradenitis-suppurativa Go Now

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Gilbert syndrome Genetic and Rare Diseases Information

Details: Gilbert syndrome is a mild liver disorder that impairs the body's ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia). Most people with Gilbert syndrome do not have symptoms or have mild jaundice.In some cases, jaundice is triggered or made

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6507/gilbert-syndrome Go Now

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Bullous pemphigoid Genetic and Rare Diseases Information

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.

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/5972/bullous-pemphigoid Go Now

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Syndrome of inappropriate antidiuretic hormone Genetic

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.

› Verified 5 days ago

› Url: https://rarediseases.info.nih.gov/diseases/10306/syndrome-of-inappropriate-antidiuretic-hormone Go Now

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Myotonic dystrophy Genetic and Rare Diseases Information

Details: Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles.

› Verified 7 days ago

› Url: https://rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy Go Now

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Alpha-thalassemia Genetic and Rare Diseases Information

Details: Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin.Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications.Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease.Hb Bart syndrome may be …

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/621/alpha-thalassemia Go Now

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Ring chromosome 21

Details: Ring chromosome 21 is a rare chromosome abnormality in which the ends of chromosome 21 join together to form a ring shape. Many people with ring chromosome 21 have normal development and are healthy, having been diagnosed after having chromosome testing due to infertility, multiple miscarriages, or a child with a chromosome abnormality.

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 Go Now

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Zollinger-Ellison syndrome

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

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7918/zollinger-ellison-syndrome Go Now

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Congenital anosmia 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.

› Verified 6 days ago

› Url: https://rarediseases.info.nih.gov/diseases/9486/congenital-anosmia Go Now

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New-onset refractory status epilepticus Genetic and Rare

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.

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/12244/norse Go Now

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Lesch Nyhan syndrome

Details: Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability.

› Verified 8 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome Go Now

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Noonan syndrome Genetic and Rare Diseases Information

Details: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, problems with bone structure (skeletal malformations), and developmental delay.

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome Go Now

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Familial adenomatous polyposis

Details: Familial adenomatous polyposis (FAP) leads to the growth of hundreds to thousands of non-cancerous (benign) polyps in the colon and rectum. Overtime, the polyps can become cancerous (malignant), leading to colorectal cancer at an average age of 39 years. Symptoms of FAP may include dental abnormalities, tumors of the connective tissue (desmoid tumors), and benign and malignant …

› Verified 8 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6408/familial-adenomatous-polyposis Go Now

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Glycine encephalopathy

Details: Glycine encephalopathy is an inherited metabolic disease characterized by abnormally high levels of an amino acid called glycine. Glycine is a chemical messenger that transmits signals in the brain. According to the symptoms the disease onset, glycine encephalopathy may be divided in: Classical neonatal form (most common): Symptoms start within a few days of life and may include poor feeding

› Verified Just Now

› Url: https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy Go Now

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Myalgic encephalomyelitis/chronic fatigue syndrome

Details: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is an umbrella term that includes both myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS). It is a serious, chronic and complex disease that affects many systems of the body and can profoundly impact daily activities. The main symptom is disabling fatigue that does not improve with rest and lasts at least 6 …

› Verified 2 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7121/chronic-fatigue-syndrome Go Now

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Aarskog syndrome

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

› Verified 4 days ago

› Url: https://rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome Go Now

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Klinefelter syndrome

Details: NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease. The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases

› Verified 8 days ago

› Url: https://rarediseases.info.nih.gov/diseases/8705/klinefelter-syndrome Go Now

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Primary biliary cholangitis Genetic and Rare Diseases

Details: Primary biliary cholangitis (PBC) is a chronic, progressive liver disease in which the bile ducts become inflamed and damaged. This leads to the buildup of bile and causes liver problems such as scarring, cirrhosis (scarring and poor liver function), and eventual liver failure. PBC is more common in women. Many people do not have symptoms when they are first diagnosed and may not develop

› Verified 5 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7459/primary-biliary-cholangitis Go Now

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Familial hypocalciuric hypercalcemia Genetic and Rare

Details: It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. !LINK! is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health …

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› Url: https://rarediseases.info.nih.gov/diseases/10828/familial-hypocalciuric-hypercalcemia Go Now

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Glutathione synthetase deficiency Genetic and Rare

Details: The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Pediatric Patients With Metabolic or Other Genetic Disorders which may be of interest to you.

› Verified 2 days ago

› Url: https://rarediseases.info.nih.gov/diseases/10047/glutathione-synthetase-deficiency Go Now

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Sturge-Weber syndrome 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.

› Verified 9 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome Go Now

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Sickle cell anemia

Details: Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. Signs and symptoms of sickle cell disease usually begin in early

› Verified 5 days ago

› Url: https://rarediseases.info.nih.gov/diseases/8614/disease Go Now

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Wolff-Parkinson-White syndrome 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. Genetics Home Reference (GHR) contains information on Wolff-Parkinson-White syndrome. This website is maintained by the National Library of Medicine.

› Verified 8 days ago

› Url: https://rarediseases.info.nih.gov/diseases/7897/wolff-parkinson-white-syndrome Go Now

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Empty sella syndrome Genetic and Rare Diseases

Details: The Merck Manual for health care professionals provides information on Empty sella syndrome. 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.

› Verified 8 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome Go Now

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Glucose-6-phosphate dehydrogenase deficiency Genetic and

Details: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain foods, drugs, infections or stress.It occurs when a person is missing or has low levels of the enzyme glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells work properly. Symptoms during a hemolytic episode may include …

› Verified 2 days ago

› Url: https://rarediseases.info.nih.gov/diseases/6520/glucose-6-phosphate-dehydrogenase-deficiency Go Now

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