[{"id":"hereditary-diseases-cystic-fibrosis","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Cystic Fibrosis","answer":"Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs.  CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage.","detailed_information":"NIH: National Heart, Lung, and Blood Institute\n\nCystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs.  CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage.\nThe symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms.","layman_term":"Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Cystic fibrosis","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["cystic","fibrosis","hereditary","cysticfibrosis","cystic fibrosis","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Cystic Fibrosis","url":"https:\/\/medlineplus.gov\/cysticfibrosis.html"},{"title":"NIH GARD – Cystic fibrosis","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Cystic%20fibrosis"},{"title":"Orphanet – Cystic fibrosis","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Cystic%20fibrosis"},{"title":"NLM ClinVar – Cystic fibrosis","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Cystic%20fibrosis"},{"title":"PubMed – Cystic fibrosis","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Cystic%20fibrosis"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/cysticfibrosis.html","source_label":"MedlinePlus – Cystic Fibrosis"},{"id":"hereditary-diseases-sickle-cell-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Sickle Cell Disease","answer":"The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.","detailed_information":"N\/A","layman_term":"The sickle-shaped cells are not flexible and cannot change shape easily.","possible_causes":["If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.","Who is more likely to have sickle cell disease (SCD)?In the United States, most of the people with SCD are African Americans:","About 1 in 13 Black or African American babies are born with sickle cell trait","About 1 in every 365 Black or African American babies are born with sickle cell disease","SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds."],"treatment_overview":["All states now test newborns for SCD (as well as many other treatable conditions) as part of their screening programs. These programs help find the conditions early, so treatment can be started right away.","People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.","Treatments that can help relieve symptoms and lessen complications, including:"],"medical_scientific_name":"Sickle Cell Disease Due to Hb S\/S","basic_treatment_steps":["Pain relievers for acute or chronic pain.","Other treatments for specific complications, such as medicines to lower blood pressure  and vitamins to treat a vitamin deficiency.","Complementary and alternative medicine (CAM) seems to help some people deal with pain caused by SCD. These types of CAM may lower your pain, especially if it is not well managed with medicines::","Cognitive behavioral therapy (a type of counseling)","Acupuncture","Exercise or movement programs, such as yoga","Massage","Meditation and mindfulness practices","Virtual reality, a computer-generated 3D environment you can see with special goggles","It's also important to take steps to keep yourself as healthy as possible:","Get regular medical care","Get your routine vaccinations"],"first_aid_steps":[],"symptoms":["Painful swelling of the hands and feet","Fatigue or fussiness from anemia","A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)"],"keywords":["sickle","cell","disease","hereditary","sicklecelldisease","sickle cell disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Sickle Cell Disease","url":"https:\/\/medlineplus.gov\/sicklecelldisease.html"},{"title":"NIH GARD – Sickle Cell Disease Due to Hb S\/S","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Sickle%20Cell%20Disease%20Due%20to%20Hb%20S%2FS"},{"title":"Orphanet – Sickle Cell Disease Due to Hb S\/S","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Sickle%20Cell%20Disease%20Due%20to%20Hb%20S%2FS"},{"title":"NLM ClinVar – Sickle Cell Disease Due to Hb S\/S","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Sickle%20Cell%20Disease%20Due%20to%20Hb%20S%2FS"},{"title":"PubMed – Sickle Cell Disease Due to Hb S\/S","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Sickle%20Cell%20Disease%20Due%20to%20Hb%20S%2FS"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/sicklecelldisease.html","source_label":"MedlinePlus – Sickle Cell Disease"},{"id":"hereditary-diseases-sickle-cell-trait","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Sickle Cell Trait","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Sickle cell trait","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["sickle","cell","trait","hereditary","sicklecelltrait","sickle cell trait","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Sickle cell trait","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Sickle%20cell%20trait"},{"title":"Orphanet – Sickle cell trait","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Sickle%20cell%20trait"},{"title":"NLM ClinVar – Sickle cell trait","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Sickle%20cell%20trait"},{"title":"PubMed – Sickle cell trait","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Sickle%20cell%20trait"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Sickle%20cell%20trait","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-beta-thalassemia-major","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Beta Thalassemia Major","answer":"Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.","detailed_information":"Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.\nThalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.\nDoctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.\nNIH: National Heart, Lung, and Blood Institute","layman_term":"Thalassemias are inherited blood disorders.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["beta","thalassemia","major","hereditary","betathalassemiamajor","beta thalassemia major","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Thalassemia","url":"https:\/\/medlineplus.gov\/thalassemia.html"},{"title":"NIH GARD – Beta Thalassemia Major","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Beta%20Thalassemia%20Major"},{"title":"Orphanet – Beta Thalassemia Major","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Beta%20Thalassemia%20Major"},{"title":"PubMed – Beta Thalassemia Major","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Beta%20Thalassemia%20Major"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/thalassemia.html","source_label":"MedlinePlus – Thalassemia"},{"id":"hereditary-diseases-beta-thalassemia-minor","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Beta Thalassemia Minor","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["beta","thalassemia","minor","hereditary","betathalassemiaminor","beta thalassemia minor","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Beta Thalassemia Minor","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Beta%20Thalassemia%20Minor"},{"title":"Orphanet – Beta Thalassemia Minor","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Beta%20Thalassemia%20Minor"},{"title":"PubMed – Beta Thalassemia Minor","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Beta%20Thalassemia%20Minor"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Beta%20Thalassemia%20Minor","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-alpha-thalassemia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Alpha Thalassemia","answer":"Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.","detailed_information":"Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.\nThalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.\nDoctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.\nNIH: National Heart, Lung, and Blood Institute","layman_term":"Thalassemias are inherited blood disorders.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"alpha Thalassemia","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["alpha","thalassemia","hereditary","alphathalassemia","alpha thalassemia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Thalassemia","url":"https:\/\/medlineplus.gov\/thalassemia.html"},{"title":"NIH GARD – alpha Thalassemia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=alpha%20Thalassemia"},{"title":"Orphanet – alpha Thalassemia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=alpha%20Thalassemia"},{"title":"NLM ClinVar – alpha Thalassemia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=alpha%20Thalassemia"},{"title":"PubMed – alpha Thalassemia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=alpha%20Thalassemia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/thalassemia.html","source_label":"MedlinePlus – Thalassemia"},{"id":"hereditary-diseases-hemophilia-a","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Hemophilia A","answer":"Your blood contains many proteins called clotting factors that can help form clots to stop bleeding. People with hemophilia have low levels of one of these factors, usually either factor VIII (8) or factor IX (9). How severe the hemophilia is depends on the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding could happen and might lead to serious health problems.","detailed_information":"N\/A","layman_term":"Your blood contains many proteins called clotting factors that can help form clots to stop bleeding.","possible_causes":["These genes are on the X chromosome. You may have one or two X chromosomes:","People who are born male have one X chromosome (from the mother) and one Y chromosome (from the father). They can get hemophilia if their one X chromosome has the gene change.","People who are born female have two X chromosomes, one from the father and one from the mother. They usually only get hemophilia if:","Both X chromosomes have the gene change OR","One X chromosome has the gene change and the other X chromosome is missing or inactive."],"treatment_overview":["Ask about your medical history, including your symptoms and other health conditions you may have.","Ask about your family history, to find out if you have relatives who have or had hemophilia.","Do a physical exam to look for signs of hemophilia, such as bruising.","There is genetic testing for the factor VIII (8) and factor IX (9) genes. This testing may be used in people who have a family history of hemophilia to:","Identify people who are carriers before they make decisions about pregnancy","Test a fetus for hemophilia during pregnancy","Test a newborn for hemophilia"],"medical_scientific_name":"Hemophilia A with vascular abnormality","basic_treatment_steps":["If bleeding has damaged your joints, physical therapy may help them function better."],"first_aid_steps":[],"symptoms":[],"keywords":["hemophilia","hereditary","hemophiliaa","hemophilia a","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Hemophilia","url":"https:\/\/medlineplus.gov\/hemophilia.html"},{"title":"NIH GARD – Hemophilia A with vascular abnormality","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hemophilia%20A%20with%20vascular%20abnormality"},{"title":"Orphanet – Hemophilia A with vascular abnormality","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Hemophilia%20A%20with%20vascular%20abnormality"},{"title":"NLM ClinVar – Hemophilia A with vascular abnormality","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Hemophilia%20A%20with%20vascular%20abnormality"},{"title":"PubMed – Hemophilia A with vascular abnormality","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hemophilia%20A%20with%20vascular%20abnormality"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/hemophilia.html","source_label":"MedlinePlus – Hemophilia"},{"id":"hereditary-diseases-hemophilia-b","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Hemophilia B","answer":"Your blood contains many proteins called clotting factors that can help form clots to stop bleeding. People with hemophilia have low levels of one of these factors, usually either factor VIII (8) or factor IX (9). How severe the hemophilia is depends on the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding could happen and might lead to serious health problems.","detailed_information":"N\/A","layman_term":"Your blood contains many proteins called clotting factors that can help form clots to stop bleeding.","possible_causes":["These genes are on the X chromosome. You may have one or two X chromosomes:","People who are born male have one X chromosome (from the mother) and one Y chromosome (from the father). They can get hemophilia if their one X chromosome has the gene change.","People who are born female have two X chromosomes, one from the father and one from the mother. They usually only get hemophilia if:","Both X chromosomes have the gene change OR","One X chromosome has the gene change and the other X chromosome is missing or inactive."],"treatment_overview":["Ask about your medical history, including your symptoms and other health conditions you may have.","Ask about your family history, to find out if you have relatives who have or had hemophilia.","Do a physical exam to look for signs of hemophilia, such as bruising.","There is genetic testing for the factor VIII (8) and factor IX (9) genes. This testing may be used in people who have a family history of hemophilia to:","Identify people who are carriers before they make decisions about pregnancy","Test a fetus for hemophilia during pregnancy","Test a newborn for hemophilia"],"medical_scientific_name":"HEMOPHILIA B BRANDENBURG","basic_treatment_steps":["If bleeding has damaged your joints, physical therapy may help them function better."],"first_aid_steps":[],"symptoms":[],"keywords":["hemophilia","hereditary","hemophiliab","hemophilia b","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Hemophilia","url":"https:\/\/medlineplus.gov\/hemophilia.html"},{"title":"NIH GARD – HEMOPHILIA B BRANDENBURG","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=HEMOPHILIA%20B%20BRANDENBURG"},{"title":"Orphanet – HEMOPHILIA B BRANDENBURG","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=HEMOPHILIA%20B%20BRANDENBURG"},{"title":"NLM ClinVar – HEMOPHILIA B BRANDENBURG","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=HEMOPHILIA%20B%20BRANDENBURG"},{"title":"PubMed – HEMOPHILIA B BRANDENBURG","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=HEMOPHILIA%20B%20BRANDENBURG"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/hemophilia.html","source_label":"MedlinePlus – Hemophilia"},{"id":"hereditary-diseases-von-willebrand-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Von Willebrand Disease","answer":"Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets:","detailed_information":"Platelets, also known as thrombocytes, are blood cells. They form in your bone marrow, a sponge-like tissue in your bones. Platelets play a major role in blood clotting. Normally, when one of your blood vessels is injured, you start to bleed. Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. You can have different problems with your platelets:\n- If your blood has a low number of platelets, it is called thrombocytopenia. This can put you at risk for mild to serious bleeding. The bleeding could be external or internal. There can be various causes. If the problem is mild, you may not need treatment. For more serious cases, you may need medicines or blood or platelet transfusions.\n- If your blood has too many platelets, you may have a higher risk of blood clots.\n- When the cause is unknown, this is called thrombocythemia. It is rare. You may not need treatment if there are no signs or symptoms. In other cases, people who have it may need treatment with medicines or procedures.\n- If another disease or condition is causing the high platelet count, it is thrombocytosis. The treatment and outlook for thrombocytosis depends on what is causing it.\n- Another possible problem is that your platelets do not work as they should. For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. There are different types of in von Willebrand Disease; treatment depends on which type you have.\nNIH: National Heart, Lung, and Blood Institute","layman_term":"Platelets, also known as thrombocytes, are blood cells.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"von Willebrand disease type 1","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["von","willebrand","disease","hereditary","vonwillebranddisease","von willebrand disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Platelet Disorders","url":"https:\/\/medlineplus.gov\/plateletdisorders.html"},{"title":"NIH GARD – von Willebrand disease type 1","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=von%20Willebrand%20disease%20type%201"},{"title":"Orphanet – von Willebrand disease type 1","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=von%20Willebrand%20disease%20type%201"},{"title":"NLM ClinVar – von Willebrand disease type 1","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=von%20Willebrand%20disease%20type%201"},{"title":"PubMed – von Willebrand disease type 1","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=von%20Willebrand%20disease%20type%201"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/plateletdisorders.html","source_label":"MedlinePlus – Platelet Disorders"},{"id":"hereditary-diseases-factor-v-leiden-thrombophilia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Factor V Leiden Thrombophilia","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["factor","leiden","thrombophilia","hereditary","factorvleidenthrombophilia","factor v leiden thrombophilia","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Factor V Leiden Thrombophilia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Factor%20V%20Leiden%20Thrombophilia"},{"title":"Orphanet – Factor V Leiden Thrombophilia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Factor%20V%20Leiden%20Thrombophilia"},{"title":"PubMed – Factor V Leiden Thrombophilia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Factor%20V%20Leiden%20Thrombophilia"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Factor%20V%20Leiden%20Thrombophilia","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-prothrombin-g20210a","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Prothrombin G20210A","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["prothrombin","g20210a","hereditary","prothrombing20210a","prothrombin g20210a","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Prothrombin G20210A","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Prothrombin%20G20210A"},{"title":"Orphanet – Prothrombin G20210A","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Prothrombin%20G20210A"},{"title":"PubMed – Prothrombin G20210A","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Prothrombin%20G20210A"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Prothrombin%20G20210A","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-hereditary-angioedema","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Hereditary Angioedema","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Hereditary angioedema type 1","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["hereditary","angioedema","hereditaryangioedema","hereditary angioedema","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Hereditary angioedema type 1","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20angioedema%20type%201"},{"title":"Orphanet – Hereditary angioedema type 1","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Hereditary%20angioedema%20type%201"},{"title":"NLM ClinVar – Hereditary angioedema type 1","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Hereditary%20angioedema%20type%201"},{"title":"PubMed – Hereditary angioedema type 1","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hereditary%20angioedema%20type%201"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20angioedema%20type%201","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-familial-hypercholesterolemia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Familial Hypercholesterolemia","answer":"If you have too much cholesterol in your blood, it can combine with other substances in the blood to form plaque. Plaque sticks to the walls of your arteries. This buildup of plaque is known as atherosclerosis. It can lead to coronary artery disease, a condition in which your coronary arteries become narrow or even blocked.","detailed_information":"N\/A","layman_term":"If you have too much cholesterol in your blood, it can combine with other substances in the blood to form plaque.","possible_causes":["Lack of physical activity, with lots of sitting and little exercise. This lowers your HDL (good) cholesterol.","Smoking, which lowers HDL cholesterol, especially in women. It also raises your LDL cholesterol.","Stress, which may raise levels of certain hormones such as corticosteroids. These can cause your body to make more cholesterol.","Drinking too much alcohol, which can raise your total cholesterol level.","What can raise my risk of high cholesterol?A variety of things can raise your risk of high cholesterol:","Age. Your cholesterol levels tend to rise as you get older. Even though it is less common, younger people, including children and teens, can also have high cholesterol.","Family history. High blood cholesterol can run in families.","Other health conditions. Conditions such as diabetes, chronic kidney disease, HIV, and lupus can raise your risk of high cholesterol.","Medicines. Certain medicines can raise your level of LDL cholesterol or lower your level of HDL cholesterol, including:","Steroids","Some chemotherapy medicines","Medicines taken after an organ transplant"],"treatment_overview":["If the flow of oxygen-rich blood to your heart muscle is reduced or blocked, it can cause angina (chest pain) or a heart attack."],"medical_scientific_name":"Familial hypercholesterolemia","basic_treatment_steps":["NIH: National Heart, Lung, and Blood Institute"],"first_aid_steps":[],"symptoms":[],"keywords":["familial","hypercholesterolemia","hereditary","familialhypercholesterolemia","familial hypercholesterolemia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Cholesterol","url":"https:\/\/medlineplus.gov\/cholesterol.html"},{"title":"NIH GARD – Familial hypercholesterolemia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20hypercholesterolemia"},{"title":"Orphanet – Familial hypercholesterolemia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Familial%20hypercholesterolemia"},{"title":"NLM ClinVar – Familial hypercholesterolemia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Familial%20hypercholesterolemia"},{"title":"PubMed – Familial hypercholesterolemia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Familial%20hypercholesterolemia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/cholesterol.html","source_label":"MedlinePlus – Cholesterol"},{"id":"hereditary-diseases-familial-hypertriglyceridemia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Familial Hypertriglyceridemia","answer":"Triglycerides are a type of fat. They are the most common type of fat in your body. They come from foods, especially butter, oils, and other fats you eat. Triglycerides also come from extra calories. These are the calories that you eat, but your body does not need right away.","detailed_information":"What are triglycerides?Triglycerides are a type of fat. They are the most common type of fat in your body. They come from foods, especially butter, oils, and other fats you eat. Triglycerides also come from extra calories. These are the calories that you eat, but your body does not need right away.\nYour body changes these extra calories into triglycerides and stores them in fat cells. When your body needs energy, it releases the triglycerides. Your VLDL cholesterol particles carry the triglycerides to your tissues.\nHaving a high level of triglycerides can raise your risk of heart diseases, such as coronary artery disease.","layman_term":"Triglycerides are a type of fat.","possible_causes":["Regularly eating more calories than you burn off, especially if you eat a lot of sugar","Being overweight or having obesity","Cigarette smoking","Excessive alcohol use","Certain medicines","Some genetic disorders","Thyroid diseases","Poorly controlled type 2 diabetes","Liver or kidney diseases"],"treatment_overview":["What are the treatments for high triglycerides?You may be able to lower your triglyceride levels with lifestyle changes:","Controlling your weight","Regular physical activity","Not smoking","Limiting sugar and refined foods","Limiting alcohol","Switching from saturated fats to healthier fats","Some people will also need to take cholesterol medicines to lower their triglycerides."],"medical_scientific_name":"N\/A","basic_treatment_steps":["What are the treatments for high triglycerides?You may be able to lower your triglyceride levels with lifestyle changes:","Controlling your weight","Regular physical activity","Not smoking","Limiting sugar and refined foods","Limiting alcohol","Switching from saturated fats to healthier fats","Some people will also need to take cholesterol medicines to lower their triglycerides."],"first_aid_steps":[],"symptoms":[],"keywords":["familial","hypertriglyceridemia","hereditary","familialhypertriglyceridemia","familial hypertriglyceridemia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Triglycerides","url":"https:\/\/medlineplus.gov\/triglycerides.html"},{"title":"NIH GARD – Familial Hypertriglyceridemia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20Hypertriglyceridemia"},{"title":"Orphanet – Familial Hypertriglyceridemia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Familial%20Hypertriglyceridemia"},{"title":"PubMed – Familial Hypertriglyceridemia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Familial%20Hypertriglyceridemia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/triglycerides.html","source_label":"MedlinePlus – Triglycerides"},{"id":"hereditary-diseases-maturity-onset-diabetes-of-the-young","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Maturity-Onset Diabetes of the Young","answer":"What is diabetes?Diabetes, also known as diabetes mellitus, is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose is your body's main source of energy. Your body can make glucose, but it also comes from the food you eat. Insulin is a hormone made by your pancreas. Insulin helps move glucose from your bloodstream into your cells, where it can be used for energy. If you have diabetes, your body can't make insulin, can't use insulin as well as it should, or both. Too much glucose stays in your blood and doesn't reach your cells. This can cause glucose levels to get too high. Over time, high blood glucose levels can lead to serious health conditions. But you can take steps to manage your diabetes and try to prevent these health problems. What are the types of diabetes?There are different types of diabetes: - Type 1 diabetes. If you have type 1 diabetes, your body makes little or no insulin. It happens when your immune system attacks and destroys the cells that produce insulin. - Type 2 diabetes. This is the most common form of diabetes. If you have type 2 diabetes, your body may still be able to make insulin, but your cells don't respond well to insulin. They can't easily take up enough glucose from your blood. - Gestational diabetes. This is a form of diabetes that develops during pregnancy. It happens when your body can't make the extra insulin it needs during pregnancy.","detailed_information":"N\/A","layman_term":"What is diabetes?Diabetes, also known as diabetes mellitus, is a disease in which your blood glucose, or blood sugar, levels are too high.","possible_causes":["Researchers think type 1 diabetes is caused by genes and factors in the environment that might trigger the disease.","Type 2 diabetes is caused by several factors, including lifestyle factors and genes. The lifestyle factors include not being physically active and being overweight or having obesity.","Researchers think gestational diabetes is caused by the hormonal changes of pregnancy along with genetic and lifestyle factors.","Who is more likely to develop diabetes?The different types of diabetes have different risk factors:","You can develop type 1 diabetes at any age, but it most often starts in childhood. Having a parent or sibling with type 1 diabetes may increase your chance of developing it.","You are at higher risk of developing type 2 diabetes if you:","Are overweight or have obesity.","Are over age 35. Children, teenagers, and younger adults can get diabetes, but it is more common in middle-aged and older adults.","Have a family history of diabetes.","Have prediabetes. This means that your blood glucose is higher than normal, but it's not high enough to be called diabetes.","Had gestational diabetes.","Have given birth to a baby weighing 9 pounds or more."],"treatment_overview":["What are the treatments for diabetes?Treatment for diabetes involves managing your blood glucose levels:","If you have type 1 diabetes, you will need to take daily doses of insulin, either by injection or through a special pump. Some people also need to take another type of diabetes medicine that works with insulin.","Checking your blood glucose levels is also an important part of managing your diabetes. Ask your provider about the best way to check your blood glucose level and how often you should check it."],"medical_scientific_name":"Maturity-onset diabetes of the young","basic_treatment_steps":["What are the types of diabetes?There are different types of diabetes:","Type 1 diabetes. If you have type 1 diabetes, your body makes little or no insulin. It happens when your immune system attacks and destroys the cells that produce insulin.","Gestational diabetes. This is a form of diabetes that develops during pregnancy. It happens when your body can't make the extra insulin it needs during pregnancy.","NIH: National Institute of Diabetes and Digestive and Kidney Diseases"],"first_aid_steps":[],"symptoms":["Feeling very thirsty","Feeling very hungry","Urinating (peeing) more often, including at night","Fatigue","Blurry vision","Numbness or tingling in the feet or hands","Sores that do not heal","Losing weight without trying","But it's important to know that your symptoms may vary, depending on which type you have:"],"keywords":["maturity","onset","diabetes","the","young","hereditary","maturityonsetdiabetesoftheyoung","maturity-onset diabetes of the young","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Diabetes","url":"https:\/\/medlineplus.gov\/diabetes.html"},{"title":"NIH GARD – Maturity-onset diabetes of the young","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Maturity-onset%20diabetes%20of%20the%20young"},{"title":"Orphanet – Maturity-onset diabetes of the young","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Maturity-onset%20diabetes%20of%20the%20young"},{"title":"NLM ClinVar – Maturity-onset diabetes of the young","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Maturity-onset%20diabetes%20of%20the%20young"},{"title":"PubMed – Maturity-onset diabetes of the young","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Maturity-onset%20diabetes%20of%20the%20young"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/diabetes.html","source_label":"MedlinePlus – Diabetes"},{"id":"hereditary-diseases-mody-type-2","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"MODY Type 2","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["mody","type","hereditary","modytype2","mody type 2","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – MODY Type 2","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MODY%20Type%202"},{"title":"Orphanet – MODY Type 2","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=MODY%20Type%202"},{"title":"PubMed – MODY Type 2","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=MODY%20Type%202"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MODY%20Type%202","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-mody-type-3","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"MODY Type 3","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["mody","type","hereditary","modytype3","mody type 3","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – MODY Type 3","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MODY%20Type%203"},{"title":"Orphanet – MODY Type 3","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=MODY%20Type%203"},{"title":"PubMed – MODY Type 3","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=MODY%20Type%203"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MODY%20Type%203","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-neonatal-diabetes","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Neonatal Diabetes","answer":"What is diabetes?Diabetes, also known as diabetes mellitus, is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose is your body's main source of energy. Your body can make glucose, but it also comes from the food you eat. Insulin is a hormone made by your pancreas. Insulin helps move glucose from your bloodstream into your cells, where it can be used for energy. If you have diabetes, your body can't make insulin, can't use insulin as well as it should, or both. Too much glucose stays in your blood and doesn't reach your cells. This can cause glucose levels to get too high. Over time, high blood glucose levels can lead to serious health conditions. But you can take steps to manage your diabetes and try to prevent these health problems. What are the types of diabetes?There are different types of diabetes: - Type 1 diabetes. If you have type 1 diabetes, your body makes little or no insulin. It happens when your immune system attacks and destroys the cells that produce insulin. - Type 2 diabetes. This is the most common form of diabetes. If you have type 2 diabetes, your body may still be able to make insulin, but your cells don't respond well to insulin. They can't easily take up enough glucose from your blood. - Gestational diabetes. This is a form of diabetes that develops during pregnancy. It happens when your body can't make the extra insulin it needs during pregnancy.","detailed_information":"N\/A","layman_term":"What is diabetes?Diabetes, also known as diabetes mellitus, is a disease in which your blood glucose, or blood sugar, levels are too high.","possible_causes":["Researchers think type 1 diabetes is caused by genes and factors in the environment that might trigger the disease.","Type 2 diabetes is caused by several factors, including lifestyle factors and genes. The lifestyle factors include not being physically active and being overweight or having obesity.","Researchers think gestational diabetes is caused by the hormonal changes of pregnancy along with genetic and lifestyle factors.","Who is more likely to develop diabetes?The different types of diabetes have different risk factors:","You can develop type 1 diabetes at any age, but it most often starts in childhood. Having a parent or sibling with type 1 diabetes may increase your chance of developing it.","You are at higher risk of developing type 2 diabetes if you:","Are overweight or have obesity.","Are over age 35. Children, teenagers, and younger adults can get diabetes, but it is more common in middle-aged and older adults.","Have a family history of diabetes.","Have prediabetes. This means that your blood glucose is higher than normal, but it's not high enough to be called diabetes.","Had gestational diabetes.","Have given birth to a baby weighing 9 pounds or more."],"treatment_overview":["What are the treatments for diabetes?Treatment for diabetes involves managing your blood glucose levels:","If you have type 1 diabetes, you will need to take daily doses of insulin, either by injection or through a special pump. Some people also need to take another type of diabetes medicine that works with insulin.","Checking your blood glucose levels is also an important part of managing your diabetes. Ask your provider about the best way to check your blood glucose level and how often you should check it."],"medical_scientific_name":"Neonatal diabetes mellitus","basic_treatment_steps":["What are the types of diabetes?There are different types of diabetes:","Type 1 diabetes. If you have type 1 diabetes, your body makes little or no insulin. It happens when your immune system attacks and destroys the cells that produce insulin.","Gestational diabetes. This is a form of diabetes that develops during pregnancy. It happens when your body can't make the extra insulin it needs during pregnancy.","NIH: National Institute of Diabetes and Digestive and Kidney Diseases"],"first_aid_steps":[],"symptoms":["Feeling very thirsty","Feeling very hungry","Urinating (peeing) more often, including at night","Fatigue","Blurry vision","Numbness or tingling in the feet or hands","Sores that do not heal","Losing weight without trying","But it's important to know that your symptoms may vary, depending on which type you have:"],"keywords":["neonatal","diabetes","hereditary","neonataldiabetes","neonatal diabetes","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Diabetes","url":"https:\/\/medlineplus.gov\/diabetes.html"},{"title":"NIH GARD – Neonatal diabetes mellitus","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Neonatal%20diabetes%20mellitus"},{"title":"Orphanet – Neonatal diabetes mellitus","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Neonatal%20diabetes%20mellitus"},{"title":"NLM ClinVar – Neonatal diabetes mellitus","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Neonatal%20diabetes%20mellitus"},{"title":"PubMed – Neonatal diabetes mellitus","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Neonatal%20diabetes%20mellitus"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/diabetes.html","source_label":"MedlinePlus – Diabetes"},{"id":"hereditary-diseases-melas-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"MELAS Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"MELAS syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["melas","syndrome","hereditary","melassyndrome","melas syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – MELAS syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MELAS%20syndrome"},{"title":"Orphanet – MELAS syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=MELAS%20syndrome"},{"title":"NLM ClinVar – MELAS syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=MELAS%20syndrome"},{"title":"PubMed – MELAS syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=MELAS%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MELAS%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-merrf-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"MERRF Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"MERRF syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["merrf","syndrome","hereditary","merrfsyndrome","merrf syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – MERRF syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MERRF%20syndrome"},{"title":"Orphanet – MERRF syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=MERRF%20syndrome"},{"title":"NLM ClinVar – MERRF syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=MERRF%20syndrome"},{"title":"PubMed – MERRF syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=MERRF%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=MERRF%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-leber-hereditary-optic-neuropathy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Leber Hereditary Optic Neuropathy","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Leber hereditary optic neuropathy, autosomal recessive","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["leber","hereditary","optic","neuropathy","leberhereditaryopticneuropathy","leber hereditary optic neuropathy","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Leber hereditary optic neuropathy, autosomal recessive","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Leber%20hereditary%20optic%20neuropathy%2C%20autosomal%20recessive"},{"title":"Orphanet – Leber hereditary optic neuropathy, autosomal recessive","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Leber%20hereditary%20optic%20neuropathy%2C%20autosomal%20recessive"},{"title":"NLM ClinVar – Leber hereditary optic neuropathy, autosomal recessive","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Leber%20hereditary%20optic%20neuropathy%2C%20autosomal%20recessive"},{"title":"PubMed – Leber hereditary optic neuropathy, autosomal recessive","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Leber%20hereditary%20optic%20neuropathy%2C%20autosomal%20recessive"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Leber%20hereditary%20optic%20neuropathy%2C%20autosomal%20recessive","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-huntington-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Huntington Disease","answer":"Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions. If one of your parents has Huntington's disease, you have a 50% chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test. There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease. NIH: National Institute of Neurological Disorders and Stroke","detailed_information":"N\/A","layman_term":"Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Huntington disease","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":["There is no cure.  Medicines can help manage some of the symptoms, but cannot slow down or stop the disease.","NIH: National Institute of Neurological Disorders and Stroke"],"keywords":["huntington","disease","hereditary","huntingtondisease","huntington disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Huntington's Disease","url":"https:\/\/medlineplus.gov\/huntingtonsdisease.html"},{"title":"NIH GARD – Huntington disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Huntington%20disease"},{"title":"Orphanet – Huntington disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Huntington%20disease"},{"title":"NLM ClinVar – Huntington disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Huntington%20disease"},{"title":"PubMed – Huntington disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Huntington%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/huntingtonsdisease.html","source_label":"MedlinePlus – Huntington's Disease"},{"id":"hereditary-diseases-spinocerebellar-ataxia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Spinocerebellar Ataxia","answer":"When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include:","detailed_information":"When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include:\n- Cancer\n- Genetic disorders\n- Ataxias - failure of muscle control in the arms and legs that result in movement disorders\n- Degeneration - disorders caused by brain cells decreasing in size or wasting away\nTreatment of cerebellar disorders depends on the cause. In some cases, there is no cure but treatment may help with symptoms.\nNIH: National Institute of Neurological Disorders and Stroke","layman_term":"When you play the piano or hit a tennis ball you are activating the cerebellum.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Spinocerebellar ataxia 43","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["spinocerebellar","ataxia","hereditary","spinocerebellarataxia","spinocerebellar ataxia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Cerebellar Disorders","url":"https:\/\/medlineplus.gov\/cerebellardisorders.html"},{"title":"NIH GARD – Spinocerebellar ataxia 43","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Spinocerebellar%20ataxia%2043"},{"title":"Orphanet – Spinocerebellar ataxia 43","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Spinocerebellar%20ataxia%2043"},{"title":"NLM ClinVar – Spinocerebellar ataxia 43","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Spinocerebellar%20ataxia%2043"},{"title":"PubMed – Spinocerebellar ataxia 43","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Spinocerebellar%20ataxia%2043"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/cerebellardisorders.html","source_label":"MedlinePlus – Cerebellar Disorders"},{"id":"hereditary-diseases-friedreich-ataxia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Friedreich Ataxia","answer":"Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs.  Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include:","detailed_information":"Friedreich ataxia is an inherited disease that damages your nervous system. The damage affects your spinal cord and the nerves that control muscle movement in your arms and legs.  Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which means trouble coordinating movements. Specific symptoms include:\n- Difficulty walking\n- \tMuscle weakness\n- \tSpeech problems\n- \tInvoluntary eye movements\n- \tScoliosis (curving of the spine to one side)\n- \tHeart palpitations, from the heart disease which can happen along with Friedreich ataxia\nPeople with Friedreich ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure. You can treat symptoms with medicines, braces, surgery, and physical therapy.\nNIH: National Institute of Neurological Disorders and Stroke","layman_term":"Friedreich ataxia is an inherited disease that damages your nervous system.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Friedreich ataxia","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["friedreich","ataxia","hereditary","friedreichataxia","friedreich ataxia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Friedreich Ataxia","url":"https:\/\/medlineplus.gov\/friedreichataxia.html"},{"title":"NIH GARD – Friedreich ataxia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Friedreich%20ataxia"},{"title":"Orphanet – Friedreich ataxia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Friedreich%20ataxia"},{"title":"NLM ClinVar – Friedreich ataxia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Friedreich%20ataxia"},{"title":"PubMed – Friedreich ataxia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Friedreich%20ataxia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/friedreichataxia.html","source_label":"MedlinePlus – Friedreich Ataxia"},{"id":"hereditary-diseases-duchenne-muscular-dystrophy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Duchenne Muscular Dystrophy","answer":"There are many different types of MD. Some of the more common types include:","detailed_information":"N\/A","layman_term":"There are many different types of MD.","possible_causes":["There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can  have different gene changes.","Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy."],"treatment_overview":["A medical and family history","A physical exam","Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles","Muscle biopsies","Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals","Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems","Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise","Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue"],"medical_scientific_name":"Duchenne muscular dystrophy","basic_treatment_steps":["Physical therapy to help keep muscles flexible and strong","Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles","Respiratory care, such as breathing exercises, oxygen therapy, and ventilators","Speech therapy to help with speech and swallowing problems","Assistive devices, such as wheelchairs, splints and braces, and walkers"],"first_aid_steps":[],"symptoms":["Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts","NIH: National Institute of Neurological Disorders and Stroke"],"keywords":["duchenne","muscular","dystrophy","hereditary","duchennemusculardystrophy","duchenne muscular dystrophy","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Muscular Dystrophy","url":"https:\/\/medlineplus.gov\/musculardystrophy.html"},{"title":"NIH GARD – Duchenne muscular dystrophy","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Duchenne%20muscular%20dystrophy"},{"title":"Orphanet – Duchenne muscular dystrophy","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Duchenne%20muscular%20dystrophy"},{"title":"NLM ClinVar – Duchenne muscular dystrophy","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Duchenne%20muscular%20dystrophy"},{"title":"PubMed – Duchenne muscular dystrophy","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Duchenne%20muscular%20dystrophy"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/musculardystrophy.html","source_label":"MedlinePlus – Muscular Dystrophy"},{"id":"hereditary-diseases-becker-muscular-dystrophy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Becker Muscular Dystrophy","answer":"There are many different types of MD. Some of the more common types include:","detailed_information":"N\/A","layman_term":"There are many different types of MD.","possible_causes":["There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can  have different gene changes.","Muscular dystrophy can run in families, or you can be the first in your family to have a muscular dystrophy."],"treatment_overview":["A medical and family history","A physical exam","Blood and urine tests, including genetic tests and tests for certain enzymes that may be released by damaged muscles","Muscle biopsies","Electromyography and nerve conduction studies to find out if muscles are responding the right way to nerve signals","Heart testing, such as an electrocardiogram (EKG), since some types of MD can cause heart problems","Exercise tests to measure muscle strength and breathing and detect any increased rates of certain chemicals following exercise","Imaging tests such as an MRI to look at muscle quality and bulk and measure fatty replacement of muscle tissue"],"medical_scientific_name":"Becker muscular dystrophy","basic_treatment_steps":["Physical therapy to help keep muscles flexible and strong","Occupational therapy to relearn lost motor skills and learn ways to work around weakened muscles","Respiratory care, such as breathing exercises, oxygen therapy, and ventilators","Speech therapy to help with speech and swallowing problems","Assistive devices, such as wheelchairs, splints and braces, and walkers"],"first_aid_steps":[],"symptoms":["Surgery to treat some of the conditions associated with MD, such as heart problems, scoliosis, and cataracts","NIH: National Institute of Neurological Disorders and Stroke"],"keywords":["becker","muscular","dystrophy","hereditary","beckermusculardystrophy","becker muscular dystrophy","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Muscular Dystrophy","url":"https:\/\/medlineplus.gov\/musculardystrophy.html"},{"title":"NIH GARD – Becker muscular dystrophy","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Becker%20muscular%20dystrophy"},{"title":"Orphanet – Becker muscular dystrophy","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Becker%20muscular%20dystrophy"},{"title":"NLM ClinVar – Becker muscular dystrophy","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Becker%20muscular%20dystrophy"},{"title":"PubMed – Becker muscular dystrophy","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Becker%20muscular%20dystrophy"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/musculardystrophy.html","source_label":"MedlinePlus – Muscular Dystrophy"},{"id":"hereditary-diseases-myotonic-dystrophy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Myotonic Dystrophy","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Myotonic dystrophy","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["myotonic","dystrophy","hereditary","myotonicdystrophy","myotonic dystrophy","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Myotonic dystrophy","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Myotonic%20dystrophy"},{"title":"Orphanet – Myotonic dystrophy","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Myotonic%20dystrophy"},{"title":"NLM ClinVar – Myotonic dystrophy","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Myotonic%20dystrophy"},{"title":"PubMed – Myotonic dystrophy","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Myotonic%20dystrophy"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Myotonic%20dystrophy","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-charcot-marie-tooth-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Charcot-Marie-Tooth Disease","answer":"Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people.","detailed_information":"Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people.\nCMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak.\nDoctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help.\nNIH: National Institute of Neurological Disorders and Stroke","layman_term":"Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Charcot-Marie-Tooth disease","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["charcot","marie","tooth","disease","hereditary","charcotmarietoothdisease","charcot-marie-tooth disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Charcot-Marie-Tooth Disease","url":"https:\/\/medlineplus.gov\/charcotmarietoothdisease.html"},{"title":"NIH GARD – Charcot-Marie-Tooth disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Charcot-Marie-Tooth%20disease"},{"title":"Orphanet – Charcot-Marie-Tooth disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Charcot-Marie-Tooth%20disease"},{"title":"NLM ClinVar – Charcot-Marie-Tooth disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Charcot-Marie-Tooth%20disease"},{"title":"PubMed – Charcot-Marie-Tooth disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Charcot-Marie-Tooth%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/charcotmarietoothdisease.html","source_label":"MedlinePlus – Charcot-Marie-Tooth Disease"},{"id":"hereditary-diseases-spinal-muscular-atrophy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Spinal Muscular Atrophy","answer":"As the motor neurons die off, your muscles start to weaken and atrophy (waste away). The muscle damage gets worse over time and can affect speaking, walking, swallowing, and breathing.","detailed_information":"N\/A","layman_term":"As the motor neurons die off, your muscles start to weaken and atrophy (waste away).","possible_causes":["Some of the less common types of SMA may be caused by changes in other genes."],"treatment_overview":["A physical exam","A medical history, including asking about family history","Genetic testing to check for the gene changes that cause SMA","Electromyography and nerve conduction studies and a muscle biopsy may be done, especially if no gene changes were found","In some states, genetic testing for SMA is part of newborn screening tests."],"medical_scientific_name":"Spinal muscular atrophy","basic_treatment_steps":["Medicines to help the body make more of the proteins that the motor neurons need","Gene therapy for children under 2 years of age","Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs to help people stay more independent","Good nutrition and a balanced diet to help maintain weight and strength. Some people might need a feeding tube in order to get the nutrition they need.","NIH: National Institute of Neurological Disorders and Stroke"],"first_aid_steps":[],"symptoms":[],"keywords":["spinal","muscular","atrophy","hereditary","spinalmuscularatrophy","spinal muscular atrophy","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Spinal Muscular Atrophy","url":"https:\/\/medlineplus.gov\/spinalmuscularatrophy.html"},{"title":"NIH GARD – Spinal muscular atrophy","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Spinal%20muscular%20atrophy"},{"title":"Orphanet – Spinal muscular atrophy","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Spinal%20muscular%20atrophy"},{"title":"NLM ClinVar – Spinal muscular atrophy","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Spinal%20muscular%20atrophy"},{"title":"PubMed – Spinal muscular atrophy","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Spinal%20muscular%20atrophy"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/spinalmuscularatrophy.html","source_label":"MedlinePlus – Spinal Muscular Atrophy"},{"id":"hereditary-diseases-amyotrophic-lateral-sclerosis-familial","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Amyotrophic Lateral Sclerosis Familial","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["amyotrophic","lateral","sclerosis","familial","hereditary","amyotrophiclateralsclerosisfamilial","amyotrophic lateral sclerosis familial","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Amyotrophic Lateral Sclerosis Familial","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Amyotrophic%20Lateral%20Sclerosis%20Familial"},{"title":"Orphanet – Amyotrophic Lateral Sclerosis Familial","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Amyotrophic%20Lateral%20Sclerosis%20Familial"},{"title":"PubMed – Amyotrophic Lateral Sclerosis Familial","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Amyotrophic%20Lateral%20Sclerosis%20Familial"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Amyotrophic%20Lateral%20Sclerosis%20Familial","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-familial-alzheimer-early-onset","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Familial Alzheimer Early-Onset","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["familial","alzheimer","early","onset","hereditary","familialalzheimerearlyonset","familial alzheimer early-onset","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Familial Alzheimer Early-Onset","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20Alzheimer%20Early-Onset"},{"title":"Orphanet – Familial Alzheimer Early-Onset","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Familial%20Alzheimer%20Early-Onset"},{"title":"PubMed – Familial Alzheimer Early-Onset","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Familial%20Alzheimer%20Early-Onset"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20Alzheimer%20Early-Onset","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-familial-parkinson","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Familial Parkinson","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["familial","parkinson","hereditary","familialparkinson","familial parkinson","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Familial Parkinson","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20Parkinson"},{"title":"Orphanet – Familial Parkinson","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Familial%20Parkinson"},{"title":"PubMed – Familial Parkinson","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Familial%20Parkinson"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20Parkinson","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-tuberous-sclerosis","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Tuberous Sclerosis","answer":"Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include:","detailed_information":"Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include:\n- Skin problems, such as light patches and thickened skin\n- Seizures\n- Behavior problems\n- Intellectual disabilities\n- Kidney problems\nSome people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening.\nTuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications.\nNIH: National Institute of Neurological Disorders and Stroke","layman_term":"Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Tuberous sclerosis 1","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["tuberous","sclerosis","hereditary","tuberoussclerosis","tuberous sclerosis","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Tuberous Sclerosis","url":"https:\/\/medlineplus.gov\/tuberoussclerosis.html"},{"title":"NIH GARD – Tuberous sclerosis 1","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Tuberous%20sclerosis%201"},{"title":"Orphanet – Tuberous sclerosis 1","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Tuberous%20sclerosis%201"},{"title":"NLM ClinVar – Tuberous sclerosis 1","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Tuberous%20sclerosis%201"},{"title":"PubMed – Tuberous sclerosis 1","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Tuberous%20sclerosis%201"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/tuberoussclerosis.html","source_label":"MedlinePlus – Tuberous Sclerosis"},{"id":"hereditary-diseases-neurofibromatosis-type-1","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Neurofibromatosis Type 1","answer":"Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.  You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes.  Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.","detailed_information":"Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.  You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes.  Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.\nThere are three types of neurofibromatosis:\n- Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood.  Sometimes the symptoms are present at birth.","layman_term":"Neurofibromatosis is a genetic disorder of the nervous system.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":["Schwannomatosis causes intense pain. It is the rarest type.","NIH: National Institute of Neurological Disorders and Stroke"],"keywords":["neurofibromatosis","type","hereditary","neurofibromatosistype1","neurofibromatosis type 1","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Neurofibromatosis","url":"https:\/\/medlineplus.gov\/neurofibromatosis.html"},{"title":"NIH GARD – Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Neurofibromatosis%20type%201%20due%20to%20NF1%20mutation%20or%20intragenic%20deletion"},{"title":"Orphanet – Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Neurofibromatosis%20type%201%20due%20to%20NF1%20mutation%20or%20intragenic%20deletion"},{"title":"NLM ClinVar – Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Neurofibromatosis%20type%201%20due%20to%20NF1%20mutation%20or%20intragenic%20deletion"},{"title":"PubMed – Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Neurofibromatosis%20type%201%20due%20to%20NF1%20mutation%20or%20intragenic%20deletion"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/neurofibromatosis.html","source_label":"MedlinePlus – Neurofibromatosis"},{"id":"hereditary-diseases-neurofibromatosis-type-2","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Neurofibromatosis Type 2","answer":"Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.  You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes.  Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.","detailed_information":"Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.  You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes.  Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.\nThere are three types of neurofibromatosis:\n- Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood.  Sometimes the symptoms are present at birth.","layman_term":"Neurofibromatosis is a genetic disorder of the nervous system.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":["Schwannomatosis causes intense pain. It is the rarest type.","NIH: National Institute of Neurological Disorders and Stroke"],"keywords":["neurofibromatosis","type","hereditary","neurofibromatosistype2","neurofibromatosis type 2","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Neurofibromatosis","url":"https:\/\/medlineplus.gov\/neurofibromatosis.html"},{"title":"NIH GARD – Neurofibromatosis Type 2","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Neurofibromatosis%20Type%202"},{"title":"Orphanet – Neurofibromatosis Type 2","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Neurofibromatosis%20Type%202"},{"title":"PubMed – Neurofibromatosis Type 2","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Neurofibromatosis%20Type%202"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/neurofibromatosis.html","source_label":"MedlinePlus – Neurofibromatosis"},{"id":"hereditary-diseases-fragile-x-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Fragile X Syndrome","answer":"Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include: - Intelligence problems, ranging from learning disabilities to severe intellectual disabilities - Social and emotional problems, such as aggression in boys or shyness in girls - Speech and language problems, especially in boys A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help. NIH: National Institute of Child Health and Human Development","detailed_information":"N\/A","layman_term":"Fragile X syndrome is the most common form of inherited developmental disability.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Fragile X syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":["People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include:","Intelligence problems, ranging from learning disabilities to severe intellectual disabilities","Social and emotional problems, such as aggression in boys or shyness in girls","Speech and language problems, especially in boys","A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help.","NIH: National Institute of Child Health and Human Development"],"keywords":["fragile","syndrome","hereditary","fragilexsyndrome","fragile x syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Fragile X Syndrome","url":"https:\/\/medlineplus.gov\/fragilexsyndrome.html"},{"title":"NIH GARD – Fragile X syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Fragile%20X%20syndrome"},{"title":"Orphanet – Fragile X syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Fragile%20X%20syndrome"},{"title":"NLM ClinVar – Fragile X syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Fragile%20X%20syndrome"},{"title":"PubMed – Fragile X syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Fragile%20X%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/fragilexsyndrome.html","source_label":"MedlinePlus – Fragile X Syndrome"},{"id":"hereditary-diseases-rett-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Rett Syndrome","answer":"Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls.  It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include:","detailed_information":"Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls.  It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include:\n- Loss of speech\n- Loss of hand movements such as grasping\n- Compulsive movements such as hand wringing\n- Balance problems\n- Breathing problems\n- Behavior problems\n- Learning problems or intellectual disability\nRett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.\nNIH: National Institute of Child Health and Human Development","layman_term":"Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Rett syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["rett","syndrome","hereditary","rettsyndrome","rett syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Rett Syndrome","url":"https:\/\/medlineplus.gov\/rettsyndrome.html"},{"title":"NIH GARD – Rett syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Rett%20syndrome"},{"title":"Orphanet – Rett syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Rett%20syndrome"},{"title":"NLM ClinVar – Rett syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Rett%20syndrome"},{"title":"PubMed – Rett syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Rett%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/rettsyndrome.html","source_label":"MedlinePlus – Rett Syndrome"},{"id":"hereditary-diseases-angelman-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Angelman Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Angelman syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["angelman","syndrome","hereditary","angelmansyndrome","angelman syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Angelman syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Angelman%20syndrome"},{"title":"Orphanet – Angelman syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Angelman%20syndrome"},{"title":"NLM ClinVar – Angelman syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Angelman%20syndrome"},{"title":"PubMed – Angelman syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Angelman%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Angelman%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-prader-willi-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Prader-Willi Syndrome","answer":"Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity.","detailed_information":"Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity.\nBabies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include:\n- Short stature\n- Poor motor skills\n- Weight gain\n- Underdeveloped sex organs\n- Mild intellectual and learning disabilities\nThere is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives.\nNIH: National Institute of Child Health and Human Development","layman_term":"Prader-Willi Syndrome (PWS) is a rare genetic disorder.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Prader-Willi syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["prader","willi","syndrome","hereditary","praderwillisyndrome","prader-willi syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Prader-Willi Syndrome","url":"https:\/\/medlineplus.gov\/praderwillisyndrome.html"},{"title":"NIH GARD – Prader-Willi syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Prader-Willi%20syndrome"},{"title":"Orphanet – Prader-Willi syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Prader-Willi%20syndrome"},{"title":"NLM ClinVar – Prader-Willi syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Prader-Willi%20syndrome"},{"title":"PubMed – Prader-Willi syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Prader-Willi%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/praderwillisyndrome.html","source_label":"MedlinePlus – Prader-Willi Syndrome"},{"id":"hereditary-diseases-williams-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Williams Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Williams syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["williams","syndrome","hereditary","williamssyndrome","williams syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Williams syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Williams%20syndrome"},{"title":"Orphanet – Williams syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Williams%20syndrome"},{"title":"NLM ClinVar – Williams syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Williams%20syndrome"},{"title":"PubMed – Williams syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Williams%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Williams%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-down-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Down Syndrome","answer":"There is no single, standard treatment for Down syndrome. Treatments are based on each person's physical and intellectual needs, strengths, and limitations.","detailed_information":"What are the treatments for Down syndrome?There is no single, standard treatment for Down syndrome. Treatments are based on each person's physical and intellectual needs, strengths, and limitations.\nServices early in life focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapies. They are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.\nSince people with Down syndrome can have birth defects and other health problems, they will need regular medical care. They may need to have certain extra health screenings to check for problems that happen more often in people with Down syndrome.","layman_term":"There is no single, standard treatment for Down syndrome.","possible_causes":["One factor that increases the risk of having a baby with Down syndrome is the age of the mother. Women ages 35 and older are more likely to have a baby with Down syndrome."],"treatment_overview":["There are two basic types of tests that help find Down syndrome during pregnancy:"],"medical_scientific_name":"Down syndrome","basic_treatment_steps":["There are two basic types of tests that help find Down syndrome during pregnancy:"],"first_aid_steps":[],"symptoms":["Some of the common physical signs of Down syndrome include:","A flat face","Eyes that slant up","A short neck","Small hands and feet","Poor muscle tone","Loose joints","Hearing loss","Sleep apnea (a disorder that causes you to repeatedly stop breathing during sleep)","Ear infections","Eye diseases","Congenital heart defects (heart defects that are present at birth)"],"keywords":["down","syndrome","hereditary","downsyndrome","down syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Down Syndrome","url":"https:\/\/medlineplus.gov\/downsyndrome.html"},{"title":"NIH GARD – Down syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Down%20syndrome"},{"title":"Orphanet – Down syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Down%20syndrome"},{"title":"NLM ClinVar – Down syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Down%20syndrome"},{"title":"PubMed – Down syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Down%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/downsyndrome.html","source_label":"MedlinePlus – Down Syndrome"},{"id":"hereditary-diseases-edwards-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Edwards Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["edwards","syndrome","hereditary","edwardssyndrome","edwards syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"},{"title":"Orphanet – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"},{"title":"NLM ClinVar – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"},{"title":"PubMed – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-patau-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Patau Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["patau","syndrome","hereditary","patausyndrome","patau syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"},{"title":"Orphanet – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"},{"title":"NLM ClinVar – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"},{"title":"PubMed – Down syndrome (Trisomy 21) Patau syndrome (Trisomy 13) Edwards syndrome (Trisomy 18) Klinefelter syndrome (47,XXY) Turner syndrome (45, XO), and aneuploidies corresponding to the 46 chromosome screening","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Down%20syndrome%20%28Trisomy%2021%29%20Patau%20syndrome%20%28Trisomy%2013%29%20Edwards%20syndrome%20%28Trisomy%2018%29%20Klinefelter%20syndrome%20%2847%2CXXY%29%20Turner%20syndrome%20%2845%2C%20XO%29%2C%20and%20aneuploidies%20corresponding%20to%20the%2046%20chromosome%20screening","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-turner-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Turner Syndrome","answer":"What is Turner syndrome?Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems such as infertility and heart problems.","detailed_information":"N\/A","layman_term":"What is Turner syndrome?Turner syndrome is a genetic disorder that affects a girl's development and appearance.","possible_causes":[],"treatment_overview":["What are the treatments for Turner syndrome?There is no cure for Turner syndrome, but there are treatments for some of the symptoms:","If they are started in early childhood, hormone injections can often increase adult height by a few inches","Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss","Assisted reproduction technologies can help some women with Turner syndrome get pregnant","People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome.","NIH: National Institute of Child Health and Human Development"],"medical_scientific_name":"Turner syndrome","basic_treatment_steps":["What are the treatments for Turner syndrome?There is no cure for Turner syndrome, but there are treatments for some of the symptoms:","If they are started in early childhood, hormone injections can often increase adult height by a few inches","Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss","Assisted reproduction technologies can help some women with Turner syndrome get pregnant","People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome.","NIH: National Institute of Child Health and Human Development"],"first_aid_steps":[],"symptoms":["A neck that is short and has extra skin (a \"webbed\" neck)","A low hairline in the back","Low-set ears","Swollen hands and feet"],"keywords":["turner","syndrome","hereditary","turnersyndrome","turner syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Turner Syndrome","url":"https:\/\/medlineplus.gov\/turnersyndrome.html"},{"title":"NIH GARD – Turner syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Turner%20syndrome"},{"title":"Orphanet – Turner syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Turner%20syndrome"},{"title":"NLM ClinVar – Turner syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Turner%20syndrome"},{"title":"PubMed – Turner syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Turner%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/turnersyndrome.html","source_label":"MedlinePlus – Turner Syndrome"},{"id":"hereditary-diseases-klinefelter-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Klinefelter Syndrome","answer":"What is Klinefelter syndrome (KS)?Klinefelter syndrome (KS) is a genetic condition that happens when a male is born with an extra copy of the X chromosome. KS can affect different stages of physical, language, and social development. It also usually causes infertility.","detailed_information":"N\/A","layman_term":"What is Klinefelter syndrome (KS)?Klinefelter syndrome (KS) is a genetic condition that happens when a male is born with an extra copy of the X chromosome.","possible_causes":[],"treatment_overview":["Treatments for KS may include:","Testosterone replacement therapy","Surgery to remove or reduce breasts","Physical, speech, behavioral, and occupational therapy","In some cases, fertility treatments may help men with KS father children.","NIH: National Institute of Child Health and Human Development"],"medical_scientific_name":"Klinefelter syndrome","basic_treatment_steps":["Treatments for KS may include:","Testosterone replacement therapy","Surgery to remove or reduce breasts","Physical, speech, behavioral, and occupational therapy","In some cases, fertility treatments may help men with KS father children.","NIH: National Institute of Child Health and Human Development"],"first_aid_steps":[],"symptoms":["Boys with KS may be taller than other boys their age, with more fat around the belly. After puberty, they may have:","Smaller testes and penis","Breast growth (called gynecomastia)","Less facial and body hair","Reduced muscle tone","Narrower shoulders and wider hips","Weaker bones","Decreased sexual interest","Lower energy","Many of these symptoms happen because of low testosterone in the body. Testosterone is the main male sex hormone.","Boys with KS may also have learning or language problems. These problems may affect them socially, so they may be shy and quiet and can have trouble fitting in.","Most males with KS are infertile because they make little or no sperm."],"keywords":["klinefelter","syndrome","hereditary","klinefeltersyndrome","klinefelter syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Klinefelter Syndrome","url":"https:\/\/medlineplus.gov\/klinefeltersyndrome.html"},{"title":"NIH GARD – Klinefelter syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Klinefelter%20syndrome"},{"title":"Orphanet – Klinefelter syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Klinefelter%20syndrome"},{"title":"NLM ClinVar – Klinefelter syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Klinefelter%20syndrome"},{"title":"PubMed – Klinefelter syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Klinefelter%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/klinefeltersyndrome.html","source_label":"MedlinePlus – Klinefelter Syndrome"},{"id":"hereditary-diseases-triple-x-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Triple X Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["triple","syndrome","hereditary","triplexsyndrome","triple x syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Triple X Syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Triple%20X%20Syndrome"},{"title":"Orphanet – Triple X Syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Triple%20X%20Syndrome"},{"title":"PubMed – Triple X Syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Triple%20X%20Syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Triple%20X%20Syndrome","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-digeorge-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"DiGeorge Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"DiGeorge syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["digeorge","syndrome","hereditary","digeorgesyndrome","digeorge syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – DiGeorge syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=DiGeorge%20syndrome"},{"title":"Orphanet – DiGeorge syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=DiGeorge%20syndrome"},{"title":"NLM ClinVar – DiGeorge syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=DiGeorge%20syndrome"},{"title":"PubMed – DiGeorge syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=DiGeorge%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=DiGeorge%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-marfan-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Marfan Syndrome","answer":"Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.","detailed_information":"Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.\nMarfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.","layman_term":"Marfan syndrome is a disorder that affects connective tissue.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Marfan syndrome","basic_treatment_steps":["NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases"],"first_aid_steps":[],"symptoms":[],"keywords":["marfan","syndrome","hereditary","marfansyndrome","marfan syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Marfan Syndrome","url":"https:\/\/medlineplus.gov\/marfansyndrome.html"},{"title":"NIH GARD – Marfan syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Marfan%20syndrome"},{"title":"Orphanet – Marfan syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Marfan%20syndrome"},{"title":"NLM ClinVar – Marfan syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Marfan%20syndrome"},{"title":"PubMed – Marfan syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Marfan%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/marfansyndrome.html","source_label":"MedlinePlus – Marfan Syndrome"},{"id":"hereditary-diseases-ehlers-danlos-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Ehlers-Danlos Syndrome","answer":"Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken","detailed_information":"Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken\nconnective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.\nEDS usually affects your skin, joints and blood vessel walls. Symptoms include:\n- \tLoose joints\n- \tFragile, small blood vessels\n- \tAbnormal scar formation and wound healing\n- \tSoft, velvety, stretchy skin that bruises easily","layman_term":"Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Ehlers-Danlos syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["ehlers","danlos","syndrome","hereditary","ehlersdanlossyndrome","ehlers-danlos syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Ehlers-Danlos Syndrome","url":"https:\/\/medlineplus.gov\/ehlersdanlossyndrome.html"},{"title":"NIH GARD – Ehlers-Danlos syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Ehlers-Danlos%20syndrome"},{"title":"Orphanet – Ehlers-Danlos syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Ehlers-Danlos%20syndrome"},{"title":"NLM ClinVar – Ehlers-Danlos syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Ehlers-Danlos%20syndrome"},{"title":"PubMed – Ehlers-Danlos syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Ehlers-Danlos%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/ehlersdanlossyndrome.html","source_label":"MedlinePlus – Ehlers-Danlos Syndrome"},{"id":"hereditary-diseases-osteogenesis-imperfecta","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Osteogenesis Imperfecta","answer":"Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly.  When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.","detailed_information":"Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly.  When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.\nOI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.\nThere is no specific test for OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery.\nNIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases","layman_term":"Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Osteogenesis imperfecta","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["osteogenesis","imperfecta","hereditary","osteogenesisimperfecta","osteogenesis imperfecta","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Osteogenesis Imperfecta","url":"https:\/\/medlineplus.gov\/osteogenesisimperfecta.html"},{"title":"NIH GARD – Osteogenesis imperfecta","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Osteogenesis%20imperfecta"},{"title":"Orphanet – Osteogenesis imperfecta","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Osteogenesis%20imperfecta"},{"title":"NLM ClinVar – Osteogenesis imperfecta","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Osteogenesis%20imperfecta"},{"title":"PubMed – Osteogenesis imperfecta","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Osteogenesis%20imperfecta"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/osteogenesisimperfecta.html","source_label":"MedlinePlus – Osteogenesis Imperfecta"},{"id":"hereditary-diseases-achondroplasia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Achondroplasia","answer":"People with dwarfism have short stature. This means that their height is under 4' 10\" as an adult. They are usually of normal intelligence. Dwarfism most often does happen in families where both parents are of average height.","detailed_information":"People with dwarfism have short stature. This means that their height is under 4' 10\" as an adult. They are usually of normal intelligence. Dwarfism most often does happen in families where both parents are of average height.\nMore than 300 different conditions can cause dwarfism. Achondroplasia is the most common type of dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. You may also have a larger head and weak muscle tone. Other genetic conditions, kidney disease, and problems with metabolism or hormones can also cause dwarfism.\nThe conditions that cause dwarfism can also cause other health problems. Most of them are treatable. It is important to have regular checkups throughout your life.  With proper medical care, most people with dwarfism have active lives and live as long as other people.","layman_term":"People with dwarfism have short stature.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Achondroplasia","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["achondroplasia","hereditary","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Dwarfism","url":"https:\/\/medlineplus.gov\/dwarfism.html"},{"title":"NIH GARD – Achondroplasia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Achondroplasia"},{"title":"Orphanet – Achondroplasia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Achondroplasia"},{"title":"NLM ClinVar – Achondroplasia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Achondroplasia"},{"title":"PubMed – Achondroplasia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Achondroplasia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/dwarfism.html","source_label":"MedlinePlus – Dwarfism"},{"id":"hereditary-diseases-polycystic-kidney-disease-ad","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Polycystic Kidney Disease AD","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["polycystic","kidney","disease","hereditary","polycystickidneydiseasead","polycystic kidney disease ad","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Polycystic Kidney Disease AD","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Polycystic%20Kidney%20Disease%20AD"},{"title":"Orphanet – Polycystic Kidney Disease AD","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Polycystic%20Kidney%20Disease%20AD"},{"title":"PubMed – Polycystic Kidney Disease AD","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Polycystic%20Kidney%20Disease%20AD"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Polycystic%20Kidney%20Disease%20AD","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-polycystic-kidney-disease-ar","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Polycystic Kidney Disease AR","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["polycystic","kidney","disease","hereditary","polycystickidneydiseasear","polycystic kidney disease ar","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Polycystic Kidney Disease AR","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Polycystic%20Kidney%20Disease%20AR"},{"title":"Orphanet – Polycystic Kidney Disease AR","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Polycystic%20Kidney%20Disease%20AR"},{"title":"PubMed – Polycystic Kidney Disease AR","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Polycystic%20Kidney%20Disease%20AR"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Polycystic%20Kidney%20Disease%20AR","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-alport-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Alport Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Alport syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["alport","syndrome","hereditary","alportsyndrome","alport syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Alport syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Alport%20syndrome"},{"title":"Orphanet – Alport syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Alport%20syndrome"},{"title":"NLM ClinVar – Alport syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Alport%20syndrome"},{"title":"PubMed – Alport syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Alport%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Alport%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-bartter-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Bartter Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Bartter syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["bartter","syndrome","hereditary","barttersyndrome","bartter syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Bartter syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Bartter%20syndrome"},{"title":"Orphanet – Bartter syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Bartter%20syndrome"},{"title":"NLM ClinVar – Bartter syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Bartter%20syndrome"},{"title":"PubMed – Bartter syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Bartter%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Bartter%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-gitelman-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Gitelman Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["gitelman","syndrome","hereditary","gitelmansyndrome","gitelman syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Gitelman Syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Gitelman%20Syndrome"},{"title":"Orphanet – Gitelman Syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Gitelman%20Syndrome"},{"title":"PubMed – Gitelman Syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Gitelman%20Syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Gitelman%20Syndrome","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-nephrogenic-diabetes-insipidus","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Nephrogenic Diabetes Insipidus","answer":"Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water.","detailed_information":"Diabetes insipidus (DI) causes frequent urination. You become extremely thirsty, so you drink. Then you urinate. This cycle can keep you from sleeping or even make you wet the bed. Your body produces lots of urine that is almost all water.\nDI is different from diabetes mellitus (DM), which involves insulin problems and high blood sugar. The symptoms can be similar. However, DI is related to how your kidneys handle fluids. It's much less common than DM. Urine and blood tests can show which one you have.\nUsually, DI is caused by a problem with your pituitary gland or your kidneys. Treatment depends on the cause of the problem.  Medicines can often help.\nNIH: National Institute of Diabetes and Digestive and Kidney Diseases","layman_term":"Diabetes insipidus (DI) causes frequent urination.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Nephrogenic diabetes insipidus","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["nephrogenic","diabetes","insipidus","hereditary","nephrogenicdiabetesinsipidus","nephrogenic diabetes insipidus","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Diabetes Insipidus","url":"https:\/\/medlineplus.gov\/diabetesinsipidus.html"},{"title":"NIH GARD – Nephrogenic diabetes insipidus","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Nephrogenic%20diabetes%20insipidus"},{"title":"Orphanet – Nephrogenic diabetes insipidus","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Nephrogenic%20diabetes%20insipidus"},{"title":"NLM ClinVar – Nephrogenic diabetes insipidus","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Nephrogenic%20diabetes%20insipidus"},{"title":"PubMed – Nephrogenic diabetes insipidus","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Nephrogenic%20diabetes%20insipidus"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/diabetesinsipidus.html","source_label":"MedlinePlus – Diabetes Insipidus"},{"id":"hereditary-diseases-primary-hyperoxaluria","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Primary Hyperoxaluria","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Primary hyperoxaluria","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["primary","hyperoxaluria","hereditary","primaryhyperoxaluria","primary hyperoxaluria","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Primary hyperoxaluria","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Primary%20hyperoxaluria"},{"title":"Orphanet – Primary hyperoxaluria","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Primary%20hyperoxaluria"},{"title":"NLM ClinVar – Primary hyperoxaluria","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Primary%20hyperoxaluria"},{"title":"PubMed – Primary hyperoxaluria","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Primary%20hyperoxaluria"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Primary%20hyperoxaluria","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-wilson-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Wilson Disease","answer":"Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes. Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it. Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper. With early detection and proper treatment, you can enjoy good health. NIH: National Institute of Diabetes and Digestive and Kidney Diseases","detailed_information":"N\/A","layman_term":"Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Wilson disease","basic_treatment_steps":["With early detection and proper treatment, you can enjoy good health.","NIH: National Institute of Diabetes and Digestive and Kidney Diseases"],"first_aid_steps":[],"symptoms":[],"keywords":["wilson","disease","hereditary","wilsondisease","wilson disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Wilson Disease","url":"https:\/\/medlineplus.gov\/wilsondisease.html"},{"title":"NIH GARD – Wilson disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Wilson%20disease"},{"title":"Orphanet – Wilson disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Wilson%20disease"},{"title":"NLM ClinVar – Wilson disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Wilson%20disease"},{"title":"PubMed – Wilson disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Wilson%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/wilsondisease.html","source_label":"MedlinePlus – Wilson Disease"},{"id":"hereditary-diseases-hereditary-hemochromatosis","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Hereditary Hemochromatosis","answer":"Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.","detailed_information":"Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.\nThere are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.","layman_term":"Hemochromatosis is a disease in which too much iron builds up in your body.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Hereditary hemochromatosis","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":["NIH: National Heart, Lung, and Blood Institute"],"keywords":["hereditary","hemochromatosis","hereditaryhemochromatosis","hereditary hemochromatosis","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Hemochromatosis","url":"https:\/\/medlineplus.gov\/hemochromatosis.html"},{"title":"NIH GARD – Hereditary hemochromatosis","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20hemochromatosis"},{"title":"Orphanet – Hereditary hemochromatosis","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Hereditary%20hemochromatosis"},{"title":"NLM ClinVar – Hereditary hemochromatosis","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Hereditary%20hemochromatosis"},{"title":"PubMed – Hereditary hemochromatosis","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hereditary%20hemochromatosis"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/hemochromatosis.html","source_label":"MedlinePlus – Hemochromatosis"},{"id":"hereditary-diseases-alpha-1-antitrypsin-deficiency","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Alpha-1 Antitrypsin Deficiency","answer":"AAT is made by your liver. It helps protect your lungs from inflammation and irritating substances you might breathe in, such as smoke. If your liver doesn't make enough AAT, your lungs may be more easily damaged from smoking, pollution, or dust from the environment. This can lead to a serious lung condition called chronic obstructive pulmonary disease (COPD). AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency.","detailed_information":"N\/A","layman_term":"AAT is made by your liver.","possible_causes":["If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.","There are a few gene changes that cause AAT deficiency. These gene changes can:","Decrease the amount of AAT protein your liver makes."],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":["Affect the shape of the AAT protein so that it can't move out of your liver to protect your lungs. Over time, AAT builds up in your liver and causes damage."],"first_aid_steps":[],"symptoms":["Wheezing","Shortness of breath, especially after exercise","Chronic cough with phlegm (mucus)","Repeated respiratory infections such as colds and the flu","Chest pain","Fatigue","Faster-than-normal heartbeat when you stand up","Vision problems","Losing weight without trying","Some people who have AAT deficiency may have liver damage. Signs of liver damage include jaundice (a condition that causes your skin and eyes to turn yellow) and swelling in your legs.","Rarely, AAT deficiency can cause skin problems, such as painful lumps or patches."],"keywords":["alpha","antitrypsin","deficiency","hereditary","alpha1antitrypsindeficiency","alpha-1 antitrypsin deficiency","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Alpha-1 Antitrypsin Deficiency","url":"https:\/\/medlineplus.gov\/alpha1antitrypsindeficiency.html"},{"title":"NIH GARD – Alpha-1 Antitrypsin Deficiency","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Alpha-1%20Antitrypsin%20Deficiency"},{"title":"Orphanet – Alpha-1 Antitrypsin Deficiency","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Alpha-1%20Antitrypsin%20Deficiency"},{"title":"PubMed – Alpha-1 Antitrypsin Deficiency","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Alpha-1%20Antitrypsin%20Deficiency"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/alpha1antitrypsindeficiency.html","source_label":"MedlinePlus – Alpha-1 Antitrypsin Deficiency"},{"id":"hereditary-diseases-hereditary-spherocytosis","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Hereditary Spherocytosis","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Hereditary spherocytosis","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["hereditary","spherocytosis","hereditaryspherocytosis","hereditary spherocytosis","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Hereditary spherocytosis","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20spherocytosis"},{"title":"Orphanet – Hereditary spherocytosis","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Hereditary%20spherocytosis"},{"title":"NLM ClinVar – Hereditary spherocytosis","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Hereditary%20spherocytosis"},{"title":"PubMed – Hereditary spherocytosis","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hereditary%20spherocytosis"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20spherocytosis","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-g6pd-deficiency","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"G6PD Deficiency","answer":"Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body.  The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.","detailed_information":"Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body.  The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them.\nIf you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include:\n- Paleness\n- Jaundice\n- Dark urine\n- Fatigue\n- Shortness of breath\n- Enlarged spleen\n- Rapid heart rate\nA blood test can tell if you have it. Treatments include medicines to treat infection, avoiding substances that cause the problem with red blood cells, and sometimes transfusions.\nNIH: National Library of Medicine","layman_term":"Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"G6PD deficiency","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["g6pd","deficiency","hereditary","g6pddeficiency","g6pd deficiency","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – G6PD Deficiency","url":"https:\/\/medlineplus.gov\/g6pddeficiency.html"},{"title":"NIH GARD – G6PD deficiency","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=G6PD%20deficiency"},{"title":"Orphanet – G6PD deficiency","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=G6PD%20deficiency"},{"title":"NLM ClinVar – G6PD deficiency","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=G6PD%20deficiency"},{"title":"PubMed – G6PD deficiency","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=G6PD%20deficiency"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/g6pddeficiency.html","source_label":"MedlinePlus – G6PD Deficiency"},{"id":"hereditary-diseases-fanconi-anemia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Fanconi Anemia","answer":"What is aplastic anemia?Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. It happens when there is damage to stem cells inside your bone marrow. There are different types of aplastic anemia, including Fanconi anemia.","detailed_information":"N\/A","layman_term":"What is aplastic anemia?Aplastic anemia is a rare but serious blood disorder.","possible_causes":["Autoimmune disorders, which are the most common cause","Certain inherited gene changes, such as the one that can cause Fanconi anemia","Toxic substances, such as pesticides, arsenic, and benzene","Radiation therapy and chemotherapy for cancer","Certain medicines","Viral infections such as hepatitis, Epstein-Barr virus, or HIV","Pregnancy","In many people, the cause is unknown. This is called idiopathic aplastic anemia."],"treatment_overview":["Take your medical and your family medical histories","Do a physical exam","Order tests, such as tests to check if you have low numbers of cells in your bone marrow and blood","Blood transfusions","Blood and marrow stem cell transplants","Medicines to suppress your immune system","Because of the risk of blood disorders, your doctor will monitor your condition and screen you for blood disorders regularly.","NIH: National Heart, Lung, and Blood Institute"],"medical_scientific_name":"Fanconi anemia","basic_treatment_steps":["Take your medical and your family medical histories","Do a physical exam","Order tests, such as tests to check if you have low numbers of cells in your bone marrow and blood","Blood transfusions","Blood and marrow stem cell transplants","Medicines to suppress your immune system","Because of the risk of blood disorders, your doctor will monitor your condition and screen you for blood disorders regularly.","NIH: National Heart, Lung, and Blood Institute"],"first_aid_steps":[],"symptoms":["Fatigue","Weakness","Dizziness","Shortness of breath","Easy bruising or bleeding","What other problems can aplastic anemia cause?Aplastic anemia can cause other problems, including frequent infections and bleeding. It raises your risk of developing a serious blood disorder."],"keywords":["fanconi","anemia","hereditary","fanconianemia","fanconi anemia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Aplastic Anemia","url":"https:\/\/medlineplus.gov\/aplasticanemia.html"},{"title":"NIH GARD – Fanconi anemia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Fanconi%20anemia"},{"title":"Orphanet – Fanconi anemia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Fanconi%20anemia"},{"title":"NLM ClinVar – Fanconi anemia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Fanconi%20anemia"},{"title":"PubMed – Fanconi anemia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Fanconi%20anemia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/aplasticanemia.html","source_label":"MedlinePlus – Aplastic Anemia"},{"id":"hereditary-diseases-diamond-blackfan-anemia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Diamond-Blackfan Anemia","answer":"If you have anemia, your blood does not carry enough oxygen to the rest of your body.  The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.","detailed_information":"If you have anemia, your blood does not carry enough oxygen to the rest of your body.  The most common cause of anemia is not having enough iron. Your body needs iron to make hemoglobin. Hemoglobin is an iron-rich protein that gives the red color to blood. It carries oxygen from the lungs to the rest of the body.\nAnemia has three main causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction.\nConditions that may lead to anemia include:\n- Heavy periods\n- Pregnancy\n- Ulcers\n- Colon polyps or colon cancer\n- Inherited disorders\n- A diet that does not have enough iron, folic acid or vitamin B12\n- Blood disorders such as sickle cell anemia and thalassemia, or cancer\n- Aplastic anemia, a condition that can be inherited or acquired\n- G6PD deficiency, a metabolic disorder\nAnemia can make you feel tired, cold, dizzy, and irritable. You may be short of breath or have a headache.\nYour doctor will diagnose anemia with a physical exam and blood tests. Treatment depends on the kind of anemia you have.\nNIH: National Heart, Lung, and Blood Institute","layman_term":"If you have anemia, your blood does not carry enough oxygen to the rest of your body.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Diamond-Blackfan anemia","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["diamond","blackfan","anemia","hereditary","diamondblackfananemia","diamond-blackfan anemia","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Anemia","url":"https:\/\/medlineplus.gov\/anemia.html"},{"title":"NIH GARD – Diamond-Blackfan anemia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Diamond-Blackfan%20anemia"},{"title":"Orphanet – Diamond-Blackfan anemia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Diamond-Blackfan%20anemia"},{"title":"NLM ClinVar – Diamond-Blackfan anemia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Diamond-Blackfan%20anemia"},{"title":"PubMed – Diamond-Blackfan anemia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Diamond-Blackfan%20anemia"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/anemia.html","source_label":"MedlinePlus – Anemia"},{"id":"hereditary-diseases-wiskott-aldrich-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Wiskott-Aldrich Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Wiskott-Aldrich syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["wiskott","aldrich","syndrome","hereditary","wiskottaldrichsyndrome","wiskott-aldrich syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Wiskott-Aldrich syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Wiskott-Aldrich%20syndrome"},{"title":"Orphanet – Wiskott-Aldrich syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Wiskott-Aldrich%20syndrome"},{"title":"NLM ClinVar – Wiskott-Aldrich syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Wiskott-Aldrich%20syndrome"},{"title":"PubMed – Wiskott-Aldrich syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Wiskott-Aldrich%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Wiskott-Aldrich%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-severe-combined-immunodeficiency","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Severe Combined Immunodeficiency","answer":"When germs such as bacteria or viruses invade your body, they attack and multiply. This is called an infection. The infection causes the disease that makes you sick. Your immune system protects you from the disease by fighting off the germs.","detailed_information":"N\/A","layman_term":"When germs such as bacteria or viruses invade your body, they attack and multiply.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Severe combined immunodeficiency disease","basic_treatment_steps":["Mucous membranes, which are the moist, inner linings of some organs and body cavities. They make mucus and other substances which can trap and fight germs.","White blood cells, which fight germs","Organs and tissues of the lymph system, such as the thymus, spleen, tonsils, lymph nodes, lymph vessels, and bone marrow.  They produce, store, and carry white blood cells.","What are the types of immunity?There are three different types of immunity:","Active immunity, also called adaptive immunity, develops when you are infected with or vaccinated against a foreign substance. Active immunity is usually long-lasting. For many diseases, it can last your entire life."],"first_aid_steps":[],"symptoms":[],"keywords":["severe","combined","immunodeficiency","hereditary","severecombinedimmunodeficiency","severe combined immunodeficiency","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Immune System and Disorders","url":"https:\/\/medlineplus.gov\/immunesystemanddisorders.html"},{"title":"NIH GARD – Severe combined immunodeficiency disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Severe%20combined%20immunodeficiency%20disease"},{"title":"Orphanet – Severe combined immunodeficiency disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Severe%20combined%20immunodeficiency%20disease"},{"title":"NLM ClinVar – Severe combined immunodeficiency disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Severe%20combined%20immunodeficiency%20disease"},{"title":"PubMed – Severe combined immunodeficiency disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Severe%20combined%20immunodeficiency%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/immunesystemanddisorders.html","source_label":"MedlinePlus – Immune System and Disorders"},{"id":"hereditary-diseases-chronic-granulomatous-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Chronic Granulomatous Disease","answer":"When germs such as bacteria or viruses invade your body, they attack and multiply. This is called an infection. The infection causes the disease that makes you sick. Your immune system protects you from the disease by fighting off the germs.","detailed_information":"N\/A","layman_term":"When germs such as bacteria or viruses invade your body, they attack and multiply.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Chronic granulomatous disease","basic_treatment_steps":["Mucous membranes, which are the moist, inner linings of some organs and body cavities. They make mucus and other substances which can trap and fight germs.","White blood cells, which fight germs","Organs and tissues of the lymph system, such as the thymus, spleen, tonsils, lymph nodes, lymph vessels, and bone marrow.  They produce, store, and carry white blood cells.","What are the types of immunity?There are three different types of immunity:","Active immunity, also called adaptive immunity, develops when you are infected with or vaccinated against a foreign substance. Active immunity is usually long-lasting. For many diseases, it can last your entire life."],"first_aid_steps":[],"symptoms":[],"keywords":["chronic","granulomatous","disease","hereditary","chronicgranulomatousdisease","chronic granulomatous disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Immune System and Disorders","url":"https:\/\/medlineplus.gov\/immunesystemanddisorders.html"},{"title":"NIH GARD – Chronic granulomatous disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Chronic%20granulomatous%20disease"},{"title":"Orphanet – Chronic granulomatous disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Chronic%20granulomatous%20disease"},{"title":"NLM ClinVar – Chronic granulomatous disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Chronic%20granulomatous%20disease"},{"title":"PubMed – Chronic granulomatous disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Chronic%20granulomatous%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/immunesystemanddisorders.html","source_label":"MedlinePlus – Immune System and Disorders"},{"id":"hereditary-diseases-x-linked-agammaglobulinemia","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"X-linked Agammaglobulinemia","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"X-linked agammaglobulinemia","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["linked","agammaglobulinemia","hereditary","xlinkedagammaglobulinemia","x-linked agammaglobulinemia","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – X-linked agammaglobulinemia","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=X-linked%20agammaglobulinemia"},{"title":"Orphanet – X-linked agammaglobulinemia","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=X-linked%20agammaglobulinemia"},{"title":"NLM ClinVar – X-linked agammaglobulinemia","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=X-linked%20agammaglobulinemia"},{"title":"PubMed – X-linked agammaglobulinemia","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=X-linked%20agammaglobulinemia"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=X-linked%20agammaglobulinemia","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-common-variable-immunodeficiency-hereditary","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Common Variable Immunodeficiency Hereditary","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["common","variable","immunodeficiency","hereditary","commonvariableimmunodeficiencyhereditary","common variable immunodeficiency hereditary","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Common Variable Immunodeficiency Hereditary","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Common%20Variable%20Immunodeficiency%20Hereditary"},{"title":"Orphanet – Common Variable Immunodeficiency Hereditary","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Common%20Variable%20Immunodeficiency%20Hereditary"},{"title":"PubMed – Common Variable Immunodeficiency Hereditary","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Common%20Variable%20Immunodeficiency%20Hereditary"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Common%20Variable%20Immunodeficiency%20Hereditary","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-hereditary-breast-ovarian-cancer-brca1","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Hereditary Breast Ovarian Cancer BRCA1","answer":"There are a few different types of ovarian cancer. The most common type is epithelial cancer. It begins in the cells that cover the ovary.","detailed_information":"N\/A","layman_term":"There are a few different types of ovarian cancer.","possible_causes":["There are also certain genetic changes that can raise your risk of ovarian cancer, including changes called BRCA1 and BRCA2. These two changes also raise your risk of breast and other cancers.","Besides genetics, your lifestyle and the environment can affect your risk of ovarian cancer.","Who is more likely to develop ovarian cancer?Certain people are more likely to develop ovarian cancer. They include those who:","Have a family history of ovarian cancer in a mother, aunt, grandmother, or sister","Have inherited changes in the BRCA1 or BRCA2 genes","Have certain other genetic conditions, such as Lynch syndrome","Have endometriosis","Took hormone replacement therapy","Are overweight or have obesity","Are tall","Are older, especially those who have gone through menopause","Have never been pregnant"],"treatment_overview":["Will ask about your medical history, including your symptoms","Will ask about your family health history, including relatives who have had ovarian cancer","Will do a physical exam, including a pelvic exam","Will likely do imaging tests","May do blood tests such as a CA-125 blood test","Often the only way to know for sure that you have ovarian cancer is by having a biopsy of the tissue. A biopsy is done during surgery to remove the tumor.","What are the treatments for ovarian cancer?Treatments for ovarian cancer may include:","Surgery to remove as much of the cancer as possible","Chemotherapy","Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells","Your provider may suggest that you have genetic testing to look for the gene changes that raise the risk for ovarian cancer. Knowing whether you have the gene change may help your provider decide on your treatment plan.","NIH: National Cancer Institute"],"medical_scientific_name":"N\/A","basic_treatment_steps":["Will ask about your medical history, including your symptoms","Will ask about your family health history, including relatives who have had ovarian cancer","Will do a physical exam, including a pelvic exam","Will likely do imaging tests","May do blood tests such as a CA-125 blood test","Often the only way to know for sure that you have ovarian cancer is by having a biopsy of the tissue. A biopsy is done during surgery to remove the tumor.","What are the treatments for ovarian cancer?Treatments for ovarian cancer may include:","Surgery to remove as much of the cancer as possible","Chemotherapy","Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells","Your provider may suggest that you have genetic testing to look for the gene changes that raise the risk for ovarian cancer. Knowing whether you have the gene change may help your provider decide on your treatment plan.","NIH: National Cancer Institute"],"first_aid_steps":[],"symptoms":["The signs and symptoms may include:","Pain, swelling, or a feeling of pressure in the abdomen (belly) or pelvis","Sudden or frequent urge to urinate (pee)","Trouble eating or feeling full","A lump in the pelvic area","Gastrointestinal problems, such as gas, bloating, or constipation"],"keywords":["hereditary","breast","ovarian","cancer","brca1","hereditarybreastovariancancerbrca1","hereditary breast ovarian cancer brca1","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Ovarian Cancer","url":"https:\/\/medlineplus.gov\/ovariancancer.html"},{"title":"NIH GARD – Hereditary Breast Ovarian Cancer BRCA1","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20Breast%20Ovarian%20Cancer%20BRCA1"},{"title":"Orphanet – Hereditary Breast Ovarian Cancer BRCA1","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Hereditary%20Breast%20Ovarian%20Cancer%20BRCA1"},{"title":"PubMed – Hereditary Breast Ovarian Cancer BRCA1","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hereditary%20Breast%20Ovarian%20Cancer%20BRCA1"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/ovariancancer.html","source_label":"MedlinePlus – Ovarian Cancer"},{"id":"hereditary-diseases-brca2-mutation-carrier","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"BRCA2 Mutation Carrier","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["brca2","mutation","carrier","hereditary","brca2mutationcarrier","brca2 mutation carrier","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – BRCA2 Mutation Carrier","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=BRCA2%20Mutation%20Carrier"},{"title":"Orphanet – BRCA2 Mutation Carrier","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=BRCA2%20Mutation%20Carrier"},{"title":"PubMed – BRCA2 Mutation Carrier","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=BRCA2%20Mutation%20Carrier"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=BRCA2%20Mutation%20Carrier","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-lynch-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Lynch Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Lynch syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["lynch","syndrome","hereditary","lynchsyndrome","lynch syndrome","hereditary 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They can grow in your brain and spinal cord, kidneys, pancreas, adrenal glands, and reproductive tract. The tumors are usually benign (non-cancerous). But some tumors, such as those in the kidney and pancreas, can become cancerous.","detailed_information":"N\/A","layman_term":"What is Von Hippel-Lindau disease (VHL)?Von Hippel-Lindau disease (VHL) is a rare disease that causes tumors and cysts to grow in your body.","possible_causes":[],"treatment_overview":["NIH: National Institute of Neurological Disorders and Stroke"],"medical_scientific_name":"Von Hippel-Lindau syndrome","basic_treatment_steps":["NIH: National Institute of Neurological Disorders and Stroke"],"first_aid_steps":[],"symptoms":["Headaches","Problems with balance and walking","Dizziness","Weakness of the limbs","Vision problems","High blood pressure"],"keywords":["von","hippel","lindau","hereditary","vonhippellindau","von hippel-lindau","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Von Hippel-Lindau Disease","url":"https:\/\/medlineplus.gov\/vonhippellindaudisease.html"},{"title":"NIH GARD – Von Hippel-Lindau syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Von%20Hippel-Lindau%20syndrome"},{"title":"Orphanet – Von Hippel-Lindau syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Von%20Hippel-Lindau%20syndrome"},{"title":"NLM ClinVar – Von Hippel-Lindau syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Von%20Hippel-Lindau%20syndrome"},{"title":"PubMed – Von Hippel-Lindau syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Von%20Hippel-Lindau%20syndrome"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/vonhippellindaudisease.html","source_label":"MedlinePlus – Von Hippel-Lindau Disease"},{"id":"hereditary-diseases-retinoblastoma-hereditary","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Retinoblastoma Hereditary","answer":"Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up of muscles, skin and nerves. If the cancer starts inside the eyeball it's called intraocular cancer. The most common intraocular cancers in adults are melanoma and lymphoma. The most common eye cancer in children is retinoblastoma, which starts in the cells of the retina.  Cancer can also spread to the eye from other parts of the body.","detailed_information":"Cancer of the eye is uncommon. It can affect the outer parts of the eye, such as the eyelid, which are made up of muscles, skin and nerves. If the cancer starts inside the eyeball it's called intraocular cancer. The most common intraocular cancers in adults are melanoma and lymphoma. The most common eye cancer in children is retinoblastoma, which starts in the cells of the retina.  Cancer can also spread to the eye from other parts of the body.\nTreatment for eye cancer varies by the type and by how advanced it is. It may include surgery, radiation therapy, freezing or heat therapy, or laser therapy.","layman_term":"Cancer of the eye is uncommon.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["retinoblastoma","hereditary","retinoblastomahereditary","retinoblastoma hereditary","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Eye Cancer","url":"https:\/\/medlineplus.gov\/eyecancer.html"},{"title":"NIH GARD – Retinoblastoma Hereditary","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Retinoblastoma%20Hereditary"},{"title":"Orphanet – Retinoblastoma Hereditary","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Retinoblastoma%20Hereditary"},{"title":"PubMed – Retinoblastoma Hereditary","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Retinoblastoma%20Hereditary"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/eyecancer.html","source_label":"MedlinePlus – Eye Cancer"},{"id":"hereditary-diseases-li-fraumeni-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Li-Fraumeni Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Li-Fraumeni syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["fraumeni","syndrome","hereditary","lifraumenisyndrome","li-fraumeni syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Li-Fraumeni syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Li-Fraumeni%20syndrome"},{"title":"Orphanet – Li-Fraumeni syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Li-Fraumeni%20syndrome"},{"title":"NLM ClinVar – Li-Fraumeni syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Li-Fraumeni%20syndrome"},{"title":"PubMed – Li-Fraumeni syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Li-Fraumeni%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Li-Fraumeni%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-gardner-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Gardner Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Gardner syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["gardner","syndrome","hereditary","gardnersyndrome","gardner syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Gardner syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Gardner%20syndrome"},{"title":"Orphanet – Gardner syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Gardner%20syndrome"},{"title":"NLM ClinVar – Gardner syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Gardner%20syndrome"},{"title":"PubMed – Gardner syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Gardner%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Gardner%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-peutz-jeghers-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Peutz-Jeghers Syndrome","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Peutz-Jeghers syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["peutz","jeghers","syndrome","hereditary","peutzjegherssyndrome","peutz-jeghers syndrome","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Peutz-Jeghers syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Peutz-Jeghers%20syndrome"},{"title":"Orphanet – Peutz-Jeghers syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Peutz-Jeghers%20syndrome"},{"title":"NLM ClinVar – Peutz-Jeghers syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Peutz-Jeghers%20syndrome"},{"title":"PubMed – Peutz-Jeghers syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Peutz-Jeghers%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Peutz-Jeghers%20syndrome","source_label":"NLM ClinVar disease 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nonpolyposis colon cancer","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Hereditary%20nonpolyposis%20colon%20cancer"},{"title":"PubMed – Hereditary nonpolyposis colon cancer","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hereditary%20nonpolyposis%20colon%20cancer"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20nonpolyposis%20colon%20cancer","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-familial-mediterranean-fever","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Familial Mediterranean Fever","answer":"A fever is a body temperature that is higher than normal. A normal temperature can vary from person to person, but it is usually around 98.6 °F (37 °C). A fever is not a disease. It is usually a sign that your body is trying to fight an illness or infection.","detailed_information":"A fever is a body temperature that is higher than normal. A normal temperature can vary from person to person, but it is usually around 98.6 °F (37 °C). A fever is not a disease. It is usually a sign that your body is trying to fight an illness or infection.\nInfections cause most fevers. You get a fever because your body is trying to kill the virus or bacteria that caused the infection. Most of those bacteria and viruses do well when your body is at your normal temperature. But if you have a fever, it is harder for them to survive. Fever also activates your body's immune system.\nOther causes of fevers include:\n- Medicines, including some antibiotics, blood pressure medicines, and anti-seizure medicines\n- Heat illness\n- Cancers\n- Autoimmune diseases\n- Some childhood vaccines","layman_term":"A fever is a body temperature that is higher than normal.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Familial Mediterranean fever","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["familial","mediterranean","fever","hereditary","familialmediterraneanfever","familial mediterranean fever","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Fever","url":"https:\/\/medlineplus.gov\/fever.html"},{"title":"NIH GARD – Familial Mediterranean fever","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Familial%20Mediterranean%20fever"},{"title":"Orphanet – Familial Mediterranean fever","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Familial%20Mediterranean%20fever"},{"title":"NLM ClinVar – Familial Mediterranean fever","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Familial%20Mediterranean%20fever"},{"title":"PubMed – Familial Mediterranean fever","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Familial%20Mediterranean%20fever"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/fever.html","source_label":"MedlinePlus – Fever"},{"id":"hereditary-diseases-tnf-receptor-associated-periodic-syndrome","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"TNF Receptor Associated Periodic 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syndrome","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["hereditary","periodic","fever","hereditaryperiodicfever","hereditary periodic fever","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Hereditary periodic fever syndrome","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20periodic%20fever%20syndrome"},{"title":"Orphanet – Hereditary periodic fever syndrome","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Hereditary%20periodic%20fever%20syndrome"},{"title":"NLM ClinVar – Hereditary periodic fever syndrome","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Hereditary%20periodic%20fever%20syndrome"},{"title":"PubMed – Hereditary periodic fever syndrome","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Hereditary%20periodic%20fever%20syndrome"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Hereditary%20periodic%20fever%20syndrome","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-porphyria-cutanea-tarda-hereditary","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Porphyria Cutanea Tarda Hereditary","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["porphyria","cutanea","tarda","hereditary","porphyriacutaneatardahereditary","porphyria cutanea tarda hereditary","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Porphyria Cutanea Tarda Hereditary","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Porphyria%20Cutanea%20Tarda%20Hereditary"},{"title":"Orphanet – Porphyria Cutanea Tarda Hereditary","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Porphyria%20Cutanea%20Tarda%20Hereditary"},{"title":"PubMed – Porphyria Cutanea Tarda Hereditary","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Porphyria%20Cutanea%20Tarda%20Hereditary"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Porphyria%20Cutanea%20Tarda%20Hereditary","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-acute-intermittent-porphyria","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Acute Intermittent Porphyria","answer":"Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.","detailed_information":"Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.\nThere are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.\nCertain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks.","layman_term":"Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme.","possible_causes":[],"treatment_overview":["NIH: National Institute of Diabetes and Digestive and Kidney Diseases"],"medical_scientific_name":"Acute intermittent porphyria","basic_treatment_steps":["NIH: National Institute of Diabetes and Digestive and Kidney Diseases"],"first_aid_steps":[],"symptoms":[],"keywords":["acute","intermittent","porphyria","hereditary","acuteintermittentporphyria","acute intermittent porphyria","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Porphyria","url":"https:\/\/medlineplus.gov\/porphyria.html"},{"title":"NIH GARD – Acute intermittent porphyria","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Acute%20intermittent%20porphyria"},{"title":"Orphanet – Acute intermittent porphyria","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Acute%20intermittent%20porphyria"},{"title":"NLM ClinVar – Acute intermittent porphyria","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Acute%20intermittent%20porphyria"},{"title":"PubMed – Acute intermittent porphyria","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Acute%20intermittent%20porphyria"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/porphyria.html","source_label":"MedlinePlus – Porphyria"},{"id":"hereditary-diseases-gaucher-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Gaucher Disease","answer":"Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly. There are three types: - Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age. - Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2. - In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3. NIH: National Institute of Neurological Disorders and Stroke","detailed_information":"N\/A","layman_term":"Gaucher disease is a rare, inherited disorder.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Gaucher disease","basic_treatment_steps":["There are three types:","Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.","Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.","In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.","Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.","NIH: National Institute of Neurological Disorders and Stroke"],"first_aid_steps":[],"symptoms":[],"keywords":["gaucher","disease","hereditary","gaucherdisease","gaucher disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Gaucher Disease","url":"https:\/\/medlineplus.gov\/gaucherdisease.html"},{"title":"NIH GARD – Gaucher disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Gaucher%20disease"},{"title":"Orphanet – Gaucher disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Gaucher%20disease"},{"title":"NLM ClinVar – Gaucher disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Gaucher%20disease"},{"title":"PubMed – Gaucher disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Gaucher%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/gaucherdisease.html","source_label":"MedlinePlus – Gaucher Disease"},{"id":"hereditary-diseases-niemann-pick-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Niemann-Pick Disease","answer":"A genetic brain disorder is caused by a variation or a mutation in a gene.  A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.","detailed_information":"A genetic brain disorder is caused by a variation or a mutation in a gene.  A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.\nSome genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.\nSome examples of genetic brain disorders include:\n- Leukodystrophies\n- Phenylketonuria\n- Tay-Sachs disease\n- Wilson disease\nMany people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms.  Some are life-threatening.","layman_term":"A genetic brain disorder is caused by a variation or a mutation in a gene.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Niemann-Pick disease type E","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["niemann","pick","disease","hereditary","niemannpickdisease","niemann-pick disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Genetic Brain Disorders","url":"https:\/\/medlineplus.gov\/geneticbraindisorders.html"},{"title":"NIH GARD – Niemann-Pick disease type E","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Niemann-Pick%20disease%20type%20E"},{"title":"Orphanet – Niemann-Pick disease type E","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Niemann-Pick%20disease%20type%20E"},{"title":"NLM ClinVar – Niemann-Pick disease type E","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Niemann-Pick%20disease%20type%20E"},{"title":"PubMed – Niemann-Pick disease type E","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Niemann-Pick%20disease%20type%20E"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/geneticbraindisorders.html","source_label":"MedlinePlus – Genetic Brain Disorders"},{"id":"hereditary-diseases-tay-sachs-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Tay-Sachs Disease","answer":"Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.","detailed_information":"Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.\nInfants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.\nThe cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene.  If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease.\nThere is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.\nNIH: National Institute of Neurological Disorders and Stroke","layman_term":"Tay-Sachs disease is a rare, inherited disease.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Tay-Sachs disease","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["tay","sachs","disease","hereditary","taysachsdisease","tay-sachs disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Tay-Sachs Disease","url":"https:\/\/medlineplus.gov\/taysachsdisease.html"},{"title":"NIH GARD – Tay-Sachs disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Tay-Sachs%20disease"},{"title":"Orphanet – Tay-Sachs disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Tay-Sachs%20disease"},{"title":"NLM ClinVar – Tay-Sachs disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Tay-Sachs%20disease"},{"title":"PubMed – Tay-Sachs disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Tay-Sachs%20disease"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/taysachsdisease.html","source_label":"MedlinePlus – Tay-Sachs Disease"},{"id":"hereditary-diseases-fabry-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Fabry Disease","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Fabry disease","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["fabry","disease","hereditary","fabrydisease","fabry disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Fabry disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Fabry%20disease"},{"title":"Orphanet – Fabry disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Fabry%20disease"},{"title":"NLM ClinVar – Fabry disease","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Fabry%20disease"},{"title":"PubMed – Fabry disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Fabry%20disease"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Fabry%20disease","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-pompe-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Pompe Disease","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["pompe","disease","hereditary","pompedisease","pompe disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Pompe Disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Pompe%20Disease"},{"title":"Orphanet – Pompe Disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Pompe%20Disease"},{"title":"PubMed – Pompe Disease","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Pompe%20Disease"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Pompe%20Disease","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-mucopolysaccharidosis-type-i","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Mucopolysaccharidosis Type I","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Mucopolysaccharidosis Type I\/II","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["mucopolysaccharidosis","type","hereditary","mucopolysaccharidosistypei","mucopolysaccharidosis type i","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Mucopolysaccharidosis Type I\/II","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Mucopolysaccharidosis%20Type%20I%2FII"},{"title":"Orphanet – Mucopolysaccharidosis Type I\/II","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Mucopolysaccharidosis%20Type%20I%2FII"},{"title":"NLM ClinVar – Mucopolysaccharidosis Type I\/II","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Mucopolysaccharidosis%20Type%20I%2FII"},{"title":"PubMed – Mucopolysaccharidosis Type I\/II","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Mucopolysaccharidosis%20Type%20I%2FII"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Mucopolysaccharidosis%20Type%20I%2FII","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-mucopolysaccharidosis-type-ii","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Mucopolysaccharidosis Type II","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"N\/A","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["mucopolysaccharidosis","type","hereditary","mucopolysaccharidosistypeii","mucopolysaccharidosis type ii","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Mucopolysaccharidosis Type II","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Mucopolysaccharidosis%20Type%20II"},{"title":"Orphanet – Mucopolysaccharidosis Type II","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Mucopolysaccharidosis%20Type%20II"},{"title":"PubMed – Mucopolysaccharidosis Type II","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Mucopolysaccharidosis%20Type%20II"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Mucopolysaccharidosis%20Type%20II","source_label":"NIH \/ NLM medical references"},{"id":"hereditary-diseases-krabbe-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Krabbe Disease","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Krabbe disease due to saposin A deficiency","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["krabbe","disease","hereditary","krabbedisease","krabbe disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Krabbe disease due to saposin A deficiency","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Krabbe%20disease%20due%20to%20saposin%20A%20deficiency"},{"title":"Orphanet – Krabbe disease due to saposin A deficiency","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Krabbe%20disease%20due%20to%20saposin%20A%20deficiency"},{"title":"NLM ClinVar – Krabbe disease due to saposin A deficiency","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Krabbe%20disease%20due%20to%20saposin%20A%20deficiency"},{"title":"PubMed – Krabbe disease due to saposin A deficiency","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Krabbe%20disease%20due%20to%20saposin%20A%20deficiency"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Krabbe%20disease%20due%20to%20saposin%20A%20deficiency","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-metachromatic-leukodystrophy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Metachromatic Leukodystrophy","answer":"N\/A","detailed_information":"N\/A","layman_term":"N\/A","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Metachromatic leukodystrophy","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["metachromatic","leukodystrophy","hereditary","metachromaticleukodystrophy","metachromatic leukodystrophy","hereditary diseases","hereditary_diseases"],"references":[{"title":"NIH GARD – Metachromatic leukodystrophy","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Metachromatic%20leukodystrophy"},{"title":"Orphanet – Metachromatic leukodystrophy","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Metachromatic%20leukodystrophy"},{"title":"NLM ClinVar – Metachromatic leukodystrophy","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Metachromatic%20leukodystrophy"},{"title":"PubMed – Metachromatic leukodystrophy","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Metachromatic%20leukodystrophy"}],"source":"database","source_url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Metachromatic%20leukodystrophy","source_label":"NLM ClinVar disease names"},{"id":"hereditary-diseases-adrenoleukodystrophy","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Adrenoleukodystrophy","answer":"Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord.  Leukodystrophies damage the white matter of your CNS. The white matter includes:","detailed_information":"What are leukodystrophies?Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord.  Leukodystrophies damage the white matter of your CNS. The white matter includes:\n- Nerve fibers, also called axons, which connect your nerve cells\n- Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.\nWhen the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.\nThere are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.","layman_term":"Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS).","possible_causes":[],"treatment_overview":["Physical and neurological exams","A medical history, including asking about family history","Imaging tests, such as an MRI or CT scan","Genetic testing to look for genetic changes that could cause leukodystrophies","Lab tests","What are the treatments for leukodystrophies?There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:","Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)","Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems","Nutritional therapy for eating and swallowing problems","Educational and recreational programs","Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.","NIH: National Institute of Neurological Disorders and Stroke"],"medical_scientific_name":"Adrenoleukodystrophy","basic_treatment_steps":["Physical and neurological exams","A medical history, including asking about family history","Imaging tests, such as an MRI or CT scan","Genetic testing to look for genetic changes that could cause leukodystrophies","Lab tests","What are the treatments for leukodystrophies?There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:","Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)","Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems","Nutritional therapy for eating and swallowing problems","Educational and recreational programs","Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.","NIH: National Institute of Neurological Disorders and Stroke"],"first_aid_steps":[],"symptoms":["Muscle tone","Balance and mobility","Walking","Speech","Ability to eat","Vision","Hearing","Behavior","There can also be other symptoms, such as:","Learning disabilities","Bladder issues","Breathing problems"],"keywords":["adrenoleukodystrophy","hereditary","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Leukodystrophies","url":"https:\/\/medlineplus.gov\/leukodystrophies.html"},{"title":"NIH GARD – Adrenoleukodystrophy","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Adrenoleukodystrophy"},{"title":"Orphanet – Adrenoleukodystrophy","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Adrenoleukodystrophy"},{"title":"NLM ClinVar – Adrenoleukodystrophy","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Adrenoleukodystrophy"},{"title":"PubMed – Adrenoleukodystrophy","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Adrenoleukodystrophy"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/leukodystrophies.html","source_label":"MedlinePlus – Leukodystrophies"},{"id":"hereditary-diseases-phenylketonuria","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Phenylketonuria","answer":"Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.  All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.","detailed_information":"Phenylketonuria (PKU) is a type of amino acid metabolism disorder. It is inherited. If you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.  All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.\nThe best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns.  For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas, and cereals. Nutritional formulas provide the vitamins and minerals you can't get from their food.","layman_term":"Phenylketonuria (PKU) is a type of amino acid metabolism disorder.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Phenylketonuria","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":["NIH: National Institute of Child Health and Human Development"],"keywords":["phenylketonuria","hereditary","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Phenylketonuria","url":"https:\/\/medlineplus.gov\/phenylketonuria.html"},{"title":"NIH GARD – Phenylketonuria","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Phenylketonuria"},{"title":"Orphanet – Phenylketonuria","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Phenylketonuria"},{"title":"NLM ClinVar – Phenylketonuria","url":"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=Phenylketonuria"},{"title":"PubMed – Phenylketonuria","url":"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=Phenylketonuria"}],"source":"database","source_url":"https:\/\/medlineplus.gov\/phenylketonuria.html","source_label":"MedlinePlus – Phenylketonuria"},{"id":"hereditary-diseases-maple-syrup-urine-disease","category":"hereditary_diseases","category_label":"Hereditary diseases","title":"Maple Syrup Urine Disease","answer":"A genetic brain disorder is caused by a variation or a mutation in a gene.  A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.","detailed_information":"A genetic brain disorder is caused by a variation or a mutation in a gene.  A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.\nSome genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.\nSome examples of genetic brain disorders include:\n- Leukodystrophies\n- Phenylketonuria\n- Tay-Sachs disease\n- Wilson disease\nMany people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms.  Some are life-threatening.","layman_term":"A genetic brain disorder is caused by a variation or a mutation in a gene.","possible_causes":[],"treatment_overview":[],"medical_scientific_name":"Maple syrup urine disease","basic_treatment_steps":[],"first_aid_steps":[],"symptoms":[],"keywords":["maple","syrup","urine","disease","hereditary","maplesyrupurinedisease","maple syrup urine disease","hereditary diseases","hereditary_diseases"],"references":[{"title":"MedlinePlus – Genetic Brain Disorders","url":"https:\/\/medlineplus.gov\/geneticbraindisorders.html"},{"title":"NIH GARD – Maple syrup urine disease","url":"https:\/\/rarediseases.info.nih.gov\/diseases?search=Maple%20syrup%20urine%20disease"},{"title":"Orphanet – Maple syrup urine disease","url":"https:\/\/www.orpha.net\/en\/disease\/search?o=FullTextSearch&q=Maple%20syrup%20urine%20disease"},{"title":"NLM ClinVar – Maple syrup urine 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