Rarediseases.info.nih.gov

Viral infections

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Actived: 3 days ago

URL: https://rarediseases.info.nih.gov/diseases/diseases-by-category/25/viral-infections

Peutz-Jeghers syndrome

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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Calloso-genital dysplasia

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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Pseudoachondroplasia

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 Evaluation and Treatment of Skeletal Diseases which may be of interest to you

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Teaching Resources

Teach.Genetics is a University of Utah site offering a wealth of resources and information aimed at helping educators bring genetics, bioscience, and health to the classroom. A companion to popular Learn.Genetics website, Teach.Genetics offers additional tools and resources to support your curriculum. The Northwest Association for Biomedical

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Kawasaki disease Genetic and Rare Diseases Information

NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases. 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

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Facial clefting corpus callosum agenesis Genetic and

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Klinefelter syndrome

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

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Hidradenitis suppurativa

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.

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Metabolic disorders

COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Get the latest research information from NIH: https://covid19.nih.gov (link is external)

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Hashimoto's syndrome

The Merck Manual for health care professionals provides information on Hashimoto's syndrome. Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers.

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Trimethylaminuria Genetic and Rare Diseases Information

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

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Myotonia congenita

Myotonia congenita is a genetic disease characterized by the inability of the skeletal muscles to quickly relax after voluntary movements. Symptoms typically begin in childhood and vary from person to person. They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms of myotonia congenita: Becker disease, which is the most

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Hereditary spherocytosis

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen. [1] Other symptoms of hemolytic anemia may include feeling that

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Paramyotonia congenita Genetic and Rare Diseases

Paramyotonia congenita is an inherited condition that affects muscles used for movement ( skeletal muscles ), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing ( myotonia) that prevent muscles from relaxing normally and lead to muscle weakness.

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Hereditary methemoglobinemia

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 Hereditary methemoglobinemia. This website is …

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Paroxysomal nonkinesigenic dyskinesia Genetic and Rare

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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Craniorachischisis Genetic and Rare Diseases Information

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.

Category:  Health Go Health

Hereditary sensory and autonomic neuropathy Genetic and

Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatty substances, that allows electrical impulses to transmit along the nerve cells.

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Anaplastic thyroid cancer

Anaplastic thyroid cancer (ATC) accounts for less than 2% of all thyroid cancers and is the most aggressive type of thyroid cancer. Most cases of anaplastic thyroid cancer are diagnosed in the sixth to seventh decade of life. Women are more likely to be affected than men. ATC generally occurs in individuals with a history of goiter or thyroid cancer. A history of head and neck radiation or

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Congenital and Genetic Diseases Genetic and Rare

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Pediatric autoimmune neuropsychiatric disorders associated

The National Institute of Mental Health (NIMH) has information on this topic. NIMH is part of the National Institutes of Health and is dedicated to understanding, treating, and preventing mental illnesses. The PANDAS Network offers an information page on Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections

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Lung adenocarcinoma

Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people can experience chest pain, a persistent cough, fatigue, coughing up blood

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Hemoglobin C disease Genetic and Rare Diseases

Hemoglobin C disease is a condition affecting a protein in the blood which transports oxygen throughout the body.Symptoms of this condition can include fatigue, weakness, and anemia.The spleen can also become enlarged as a result of this disease. For many people with this condition, symptoms are relatively mild and the lifespan is normal.

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Hereditary hemorrhagic telangiectasia Genetic and Rare

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with HHT can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. AVMs on the skin are called telangiectasias.AVMs can also develop in other parts of the body, including the brain, lungs, liver, or intestines.

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Methylcobalamin deficiency cbl G type Genetic and Rare

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 …

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Citrullinemia type II

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 …

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Hemicrania continua Genetic and Rare Diseases

Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine-like pain (exacerbations).These severe pain periods can last from 20 minutes to days.

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Familial hemophagocytic lymphohistiocytosis Genetic and

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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Intrahepatic cholangiocarcinoma Genetic and Rare

Intrahepatic cholangiocarcinoma is a cancer that develops in the cells within the bile ducts; both inside and outside the liver. The terms cholangiocarinoma and bile duct cancer are often used to refer to the same condition. This condition occurs slightly more often in males than females and usually affects people who are between 50-70 years old.

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BRCA2 hereditary breast and ovarian cancer syndrome

BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast

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Familial hypobetalipoproteinemia Genetic and Rare

Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats, causing low levels of cholesterol in the blood. The severity of the condition varies widely. Mildly affected people may have no signs or symptoms. Many affected people develop an abnormal buildup of fats in the liver (called hepatic steatosis, or fatty liver).

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Factor XIII deficiency

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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Hepatorenal syndrome Genetic and Rare Diseases

Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health ().There are two distinct types of hepatorenal syndrome.

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Bullous pemphigoid Genetic and Rare Diseases Information

Bullous pemphigoid is an autoimmune disorder which occurs when the body's immune system attacks and destroys healthy body tissue by mistake. Treatment may include corticosteroids taken by mouth or applied to the skin. Medicines that suppress the immune system may also be prescribed. For some, antibiotics in the tetracycline family are useful.

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Gastroschisis Genetic and Rare Diseases Information

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 …

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Nontuberculous mycobacterial lung disease Genetic and

Nontuberculous mycobacterial (NTM) lung disease is an infectious condition caused by certain types of mycobacteria.Some people with NTM lung disease have no signs or symptoms, while others experience a severe cough, hemoptysis (coughing up blood), shortness of …

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Spinal muscular atrophy type 4

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 …

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Homocystinuria due to CBS deficiency Genetic and Rare

Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to correctly use the amino acid, homocysteine, one of the building blocks of protein. This form of homocystinuria is caused by a genetic mutation in the CBS gene, which leads to low levels or absence of an enzyme called cystathionine beta-synthase (CBS). When CBS is absent or not working right

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