sarnsrun/medquad huggingface dataset:
Topic: Cutaneous mastocytoma
Question: What are the symptoms of Cutaneous mastocytoma ?
Answer: What are the signs and symptoms of Cutaneous mastocytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Thickened skin 50% Abdominal pain 7.5% Impaired temperature sensation 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Gamma heavy chain disease
Question: What is (are) Gamma heavy chain disease ?
Answer: Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body.  Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder.
Source: GARD
Topic: Gamma heavy chain disease
Question: What are the symptoms of Gamma heavy chain disease ?
Answer: What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly).
Source: GARD
Topic: Gamma heavy chain disease
Question: What causes Gamma heavy chain disease ?
Answer: What causes gamma heavy chain disease?  The causes or risk factors for gamma heavy chain disease are not known.
Source: GARD
Topic: Gamma heavy chain disease
Question: What are the treatments for Gamma heavy chain disease ?
Answer: How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using "gamma heavy chain disease [ti] AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search.
Source: GARD
Topic: Tukel syndrome
Question: What are the symptoms of Tukel syndrome ?
Answer: What are the signs and symptoms of Tukel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Carpal bone aplasia - Carpal synostosis - Compensatory chin elevation - Congenital fibrosis of extraocular muscles - Nonprogressive restrictive external ophthalmoplegia - Postaxial oligodactyly - Ptosis - Restrictive external ophthalmoplegia - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Senior Loken Syndrome
Question: What is (are) Senior Loken Syndrome ?
Answer: Senior Loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. It can be caused by mutations in one of at least six genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. These microscopic, finger-like projections stick out on the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). Senior Loken syndrome is inherited in an autosomal recessive pattern.
Source: GARD
Topic: Senior Loken Syndrome
Question: What are the symptoms of Senior Loken Syndrome ?
Answer: What are the signs and symptoms of Senior Loken Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Senior Loken Syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Cognitive impairment 90% Hypertension 90% Multicystic kidney dysplasia 90% Polycystic kidney dysplasia 90% Short stature 90% Visual impairment 90% Abnormality of the renal tubule 50% Abnormality of bone mineral density 7.5% Cataract 7.5% Cone-shaped epiphysis 7.5% Congenital hepatic fibrosis 7.5% Incoordination 7.5% Anemia - Autosomal recessive inheritance - Heterogeneous - Nephronophthisis - Polydipsia - Polyuria - Stage 5 chronic kidney disease - Tapetoretinal degeneration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Sarcoidosis
Question: What is (are) Sarcoidosis ?
Answer: Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. The granulomas can be found in almost any part of the body, but occur more commonly in the lungs, lymph nodes, eyes, skin, and liver. Although no one is sure what causes sarcoidosis, it is thought by most scientists to be a disorder of the immune system. The course of the disease varies from person to person. It often goes away on its own, but in some people symptoms of sarcoidosis may last a lifetime. For those who need treatment, anti-inflammatory medications and immunosuppressants can help.
Source: GARD
Topic: Sarcoidosis
Question: What are the symptoms of Sarcoidosis ?
Answer: What are the signs and symptoms of Sarcoidosis? Many people who have sarcoidosis don't have symptoms. Others may feel like they are coming down with the flu or a respiratory infection. While almost any body part or system can be affected, the lungs are most commonly involved. If granulomas form in the lungs, symptoms may include shortness of breath (dyspnea), a cough that won't go away, and chest pain. Some people feel very tired, uneasy, or depressed. Night sweats and weight loss are also common.      Sarcoidosis can also cause the following:   Skin rashes, ulcers or discoloration   Joint stiffness or pain   Enlarged lymph nodes   Enlarged liver or spleen   Vision problems, eye dryness or irritation   Headaches, seizures, or weakness on one side of the face   Aches and pains in the muscles and bones   Abnormal heart beats   Kidney stones The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcoidosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hepatomegaly 7.5% Splenomegaly 7.5% Optic neuropathy 5% Abnormality of the mouth - Anorexia - Arthritis - Blurred vision - Bone cyst - Cough - Dyspnea - Elevated erythrocyte sedimentation rate - Enlarged lacrimal glands - Exaggerated cellular immune processes - Fever - Generalized lymphadenopathy - Glaucoma - Hypercalciuria - Increased antibody level in blood - Inflammation of the large intestine - Interstitial pulmonary disease - Iridocyclitis - Pancytopenia - Photophobia - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Sarcoidosis
Question: What causes Sarcoidosis ?
Answer: What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. Others suspect that exposure to toxins or allergens in the environment is to blame. It's also possible that some people have a genetic predisposition to developing sarcoidosis, which, when combined with an environmental trigger, produces the disease. Studies are ongoing to investigate the genetic and environmental components of this disease.
Source: GARD
Topic: Sarcoidosis
Question: What are the treatments for Sarcoidosis ?
Answer: What treatment is available for sarcoidosis? The treatment of sarcoidosis depends on :  the symptoms present the severity of the symptoms whether any vital organs (e.g., your lungs, eyes, heart, or brain) are affected how the organ is affected. Some organs must be treated, regardless of your symptoms. Others may not need to be treated. Usually, if a patient doesn't have symptoms, he or she doesn't need treatment, and probably will recover in time. Currently, the drug that is most commonly used to treat sarcoidosis is prednisone.  When a patient's condition gets worse when taking prednisone or when the side effects of prednisone are severe in the patient, a doctor may prescribe other drugs. Most of these other drugs reduce inflammation by suppressing the immune system. These other drugs include: hydroxychloroquine (Plaquenil), methotrexate, azathioprine (Imuran), and cyclophosphamide (Cytoxan). Researchers continue to look for new and better treatments for sarcoidosis. Anti-tumor necrosis factor drugs and antibiotics are currently being studied. More detailed information about the treatment of sarcoidosis can be found at the following links: https://www.stopsarcoidosis.org/awareness/treatment-options/ http://emedicine.medscape.com/article/301914-treatment#showall
Source: GARD
Topic: Polycystic ovarian syndrome
Question: What is (are) Polycystic ovarian syndrome ?
Answer: Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of  hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a combination of genetic and environmental factors. Treatment for PCOS may involve birth control pills and medications for diabetes and infertility. Medicines called anti-androgens are also used to speed the growth of hair and clear acne.
Source: GARD
Topic: Polycystic ovarian syndrome
Question: What are the symptoms of Polycystic ovarian syndrome ?
Answer: What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Amenorrhea - Autosomal dominant inheritance - Enlarged polycystic ovaries - Hirsutism - Obesity - Oligomenorrhea - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Metaphyseal dysplasia maxillary hypoplasia brachydactyly
Question: What are the symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly ?
Answer: What are the signs and symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal dysplasia maxillary hypoplasia brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the humerus 50% Camptodactyly of finger 50% Craniofacial hyperostosis 50% Reduced bone mineral density 50% Cerebral cortical atrophy 7.5% Recurrent fractures 7.5% Autosomal dominant inheritance - Flared metaphysis - Hypoplasia of the maxilla - Metaphyseal dysplasia - Multiple small vertebral fractures - Osteoporosis of vertebrae - Platyspondyly - Premature loss of teeth - Short 5th metacarpal - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Factor V deficiency
Question: What is (are) Factor V deficiency ?
Answer: Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.
Source: GARD
Topic: Factor V deficiency
Question: What are the symptoms of Factor V deficiency ?
Answer: What are the signs and symptoms of Factor V deficiency? The symptoms of factor V deficiency may include: Bleeding into the skin Excessive bruising Nose bleeds Bleeding of the gums Excessive menstrual bleeding Prolonged or excessive loss of blood with surgery or trauma Umbilical stump bleeding The Human Phenotype Ontology provides the following list of signs and symptoms for Factor V deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Autosomal recessive inheritance - Bruising susceptibility - Epistaxis - Menorrhagia - Prolonged bleeding time - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor V activity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Factor V deficiency
Question: What causes Factor V deficiency ?
Answer: What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally.
Source: GARD
Topic: Factor V deficiency
Question: What are the treatments for Factor V deficiency ?
Answer: How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery.  Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.
Source: GARD
Topic: Growth hormone insensitivity with immunodeficiency
Question: What are the symptoms of Growth hormone insensitivity with immunodeficiency ?
Answer: What are the signs and symptoms of Growth hormone insensitivity with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Growth hormone insensitivity with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of lipid metabolism 90% Insulin resistance 90% Microcephaly 90% Short stature 90% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Fine hair 50% Hypoglycemia 50% Hypoplasia of penis 50% Type II diabetes mellitus 50% Abnormality of immune system physiology 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the nail 7.5% Abnormality of the voice 7.5% Cognitive impairment 7.5% Diabetes insipidus 7.5% Hearing impairment 7.5% Truncal obesity 7.5% Growth hormone deficiency - Respiratory difficulties - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD