umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Noonan syndrome ?

Answer: Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.  People with Noonan syndrome have distinctive facial features such as a deep groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward. Affected individuals may have a high arch in the roof of the mouth (high-arched palate), poor alignment of the teeth, and a small lower jaw (micrognathia). Many children with Noonan syndrome have a short neck and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck.  Approximately 50 to 70 percent of individuals with Noonan syndrome have short stature. At birth, they are usually of normal length and weight, but growth slows over time. Abnormal levels of growth hormone may contribute to the slow growth.  Individuals with Noonan syndrome often have either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some affected people may also have an abnormal side-to-side curvature of the spine (scoliosis).  Most people with Noonan syndrome have a heart defect. The most common heart defect is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve stenosis). Some affected individuals have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood.  A variety of bleeding disorders have been associated with Noonan syndrome. Some people may have excessive bruising, nosebleeds, or prolonged bleeding following injury or surgery. Women with a bleeding disorder typically have excessive bleeding during menstruation (menorrhagia) or childbirth.  Adolescent males with Noonan syndrome typically experience delayed puberty. Affected individuals go through puberty starting at age 13 or 14 and have a reduced pubertal growth spurt. Most males with Noonan syndrome have undescended testicles (cryptorchidism), which may be related to delayed puberty or to infertility (inability to father a child) later in life. Females with Noonan syndrome typically have normal puberty and fertility.  Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a small percentage has special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. Infants with Noonan syndrome may be born with puffy hands and feet caused by a buildup of fluid (lymphedema), which can go away on its own. Affected infants may also have feeding problems, which typically get better by age 1 or 2. Older individuals can also develop lymphedema, usually in the ankles and lower legs.
Question: What are the symptoms of Prostate Cancer ?

Answer: Symptoms Most cancers in their early, most treatable stages don't cause any symptoms. Early prostate cancer usually does not cause symptoms. However, if prostate cancer develops and is not treated, it can cause these symptoms: - a need to urinate frequently, especially at night  - difficulty starting urination or holding back urine  - inability to urinate  - weak or interrupted flow of urine  - painful or burning urination  - difficulty in having an erection  - painful ejaculation  - blood in urine or semen  - pain or stiffness in the lower back, hips, or upper thighs. a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs. Any of these symptoms may be caused by cancer, but more often they are due to enlargement of the prostate, which is not cancer. If You Have Symptoms If you have any of these symptoms, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system. The doctor will ask questions about your medical history and perform an exam to try to find the cause of the prostate problems. The PSA Test The doctor may also suggest a blood test to check your prostate specific antigen, or PSA, level. PSA levels can be high not only in men who have prostate cancer, but also in men with an enlarged prostate gland and men with infections of the prostate. PSA tests may be very useful for early cancer diagnosis. However, PSA tests alone do not always tell whether or not cancer is present. PSA screening for prostate cancer is not perfect. (Screening tests check for disease in a person who shows no symptoms.) Most men with mildly elevated PSA do not have prostate cancer, and many men with prostate cancer have normal levels of PSA. A recent study revealed that men with low prostate specific antigen levels, or PSA, may still have prostate cancer. Also, the digital rectal exam can miss many prostate cancers. Other Tests The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If Cancer is Present If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope. One way of grading prostate cancer, called the Gleason system, uses scores of 2 to 10. Another system uses G1 through G4. The higher the score, the higher the grade of the tumor. High-grade tumors grow more quickly and are more likely to spread than low-grade tumors.
Question: What are the symptoms of Cushing disease ?

Answer: What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing disease. 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 adipose tissue 90% Hypercortisolism 90% Neoplasm of the endocrine system 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Abdominal pain 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Migraine 7.5% Myopathy 7.5% Paronychia 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Abdominal obesity - Abnormal fear/anxiety-related behavior - Alkalosis - Biconcave vertebral bodies - Edema - Facial erythema - Glucose intolerance - Hirsutism - Increased circulating ACTH level - Kyphosis - Mood changes - Oligomenorrhea - Osteoporosis - Pituitary adenoma - Poor wound healing - Psychotic mentation - Purpura - Skeletal muscle atrophy - Striae distensae - Vertebral compression fractures - 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.
Question: What is (are) type 1 diabetes ?

Answer: Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood.  Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.  Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.  Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.
Question: What are the symptoms of Subaortic stenosis short stature syndrome ?

Answer: What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature 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 the aorta 90% Abnormality of the voice 90% Anteverted nares 90% Arrhythmia 90% Short stature 90% Hernia of the abdominal wall 50% Kyphosis 50% Obesity 50% Respiratory insufficiency 50% Scoliosis 50% Abnormality of lipid metabolism 7.5% Acne 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Epicanthus 7.5% Low-set, posteriorly rotated ears 7.5% Microdontia 7.5% Nystagmus 7.5% Short neck 7.5% Single transverse palmar crease 7.5% Synostosis of carpal bones 7.5% Type II diabetes mellitus 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Broad finger - Broad toe - Diastema - Flat face - Glaucoma - Growth delay - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Malar flattening - Membranous subvalvular aortic stenosis - Microcornea - Microphthalmia - Narrow mouth - Opacification of the corneal stroma - Pectus excavatum - Round face - Shield chest - Short foot - Short nose - Short palm - Short phalanx of finger - Short toe - Short upper lip - Small hand - Strabismus - Subaortic stenosis - Wide intermamillary distance - Wide nasal bridge - 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.
Question: What are the symptoms of Uropathy distal obstructive polydactyly ?

Answer: What are the signs and symptoms of Uropathy distal obstructive polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uropathy distal obstructive polydactyly. 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 the cardiac septa - Abnormality of the larynx - Abnormality of the ureter - Abnormality of the uterus - Accessory spleen - Adrenal hypoplasia - Agenesis of corpus callosum - Ambiguous genitalia, female - Ambiguous genitalia, male - Anal atresia - Anencephaly - Arnold-Chiari malformation - Asplenia - Autosomal recessive inheritance - Bile duct proliferation - Bowing of the long bones - Breech presentation - Cerebellar hypoplasia - Cerebral hypoplasia - Cleft palate - Cleft upper lip - Clinodactyly - Coarctation of aorta - Cryptorchidism - Dandy-Walker malformation - Elevated amniotic fluid alpha-fetoprotein - External genital hypoplasia - Foot polydactyly - Hydrocephalus - Hypertelorism - Hypoplasia of the bladder - Hypotelorism - Intestinal malrotation - Intrauterine growth retardation - Iris coloboma - Large placenta - Lobulated tongue - Low-set ears - Microcephaly - Microphthalmia - Natal tooth - Occipital encephalocele - Olfactory lobe agenesis - Oligohydramnios - Omphalocele - Patent ductus arteriosus - Polycystic kidney dysplasia - Postaxial hand polydactyly - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Short neck - Single umbilical artery - Sloping forehead - Splenomegaly - Syndactyly - Talipes - Webbed neck - Wide mouth - 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.
Question: What is (are) chronic granulomatous disease ?

Answer: Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.  People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes.  Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system.  Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs.  Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.
Question: What is (are) Bile Duct Cancer (Cholangiocarcinoma) ?

Answer: Key Points
                    - Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts.     - Having colitis or certain liver diseases can increase the risk of bile duct cancer.    - Signs of bile duct cancer include jaundice and pain in the abdomen.    - Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer.    - Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer.     - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts.
                    A network of tubes, called ducts, connects the liver, gallbladder, and small intestine. This network begins in the liver where many small ducts collect bile (a fluid made by the liver to break down fats during digestion). The small ducts come together to form the right and left hepatic ducts, which lead out of the liver. The two ducts join outside the liver and form the common hepatic duct. The cystic duct connects the gallbladder to the common hepatic duct. Bile from the liver passes through the hepatic ducts, common hepatic duct, and cystic duct and is stored in the gallbladder.    When food is being digested, bile stored in the gallbladder is released and passes through the cystic duct to the common bile duct and into the small intestine.    Bile duct cancer is also called cholangiocarcinoma.   There are two types of bile duct cancer:         -   Intrahepatic bile duct cancer : This type of cancer forms in the bile ducts inside the liver. Only a small number of bile duct cancers are intrahepatic. Intrahepatic bile duct cancers are also called intrahepatic cholangiocarcinomas.    -   Extrahepatic bile duct cancer : The extrahepatic bile duct is made up of the hilum region and the distal region. Cancer can form in either region:                - Perihilar bile duct cancer: This type of cancer is found in the hilum region, the area where the right and left bile ducts exit the liver and join to form the common hepatic duct. Perihilar bile duct cancer is also called a Klatskin tumor or perihilar cholangiocarcinoma.      - Distal extrahepatic bile duct cancer: This type of cancer is found in the distal region. The distal region is made up of the common bile duct which passes through the pancreas and ends in the small intestine. Distal extrahepatic bile duct cancer is also called extrahepatic cholangiocarcinoma.