umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Schwannomatosis ?

Answer: What are the signs and symptoms of Schwannomatosis? Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwannomatosis, these tumors can grow along any nerve in the body, although they are less common on the vestibular nerve (vestibular schwannomas, also known as acoustic neuromas). People with vestibular schwannomas, especially those with tumors affecting the vestibular nerve on both sides of the head (bilateral), may have neurofibromatosis type 2 instead. The signs and symptoms associated with schwannomatosis vary based on the size and location of the schwannomas. The most common symptom is chronic pain, which can develop as a growing schwannoma presses on nerves or surrounding tissues. Some people may develop a mass if the schwannomas is located just beneath the skin. Others can experience neurological symptoms such as numbness; tingling; and/or weakness in the fingers and toes. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwannomatosis. 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 skin - Abnormality of the vertebral column - Autosomal dominant inheritance - Incomplete penetrance - Meningioma - Schwannoma - Somatic mutation - Spinal cord tumor - Variable expressivity - 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 causes Hypolipoproteinemia ?

Answer: What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention disease.  Hypobetalipoproteinemia is inherited in an autosomal dominant fashion. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affected. Each affected person usually has one affected parent. Autosomal dominant disorders tend to occur in every generation of an affected family. When a person with an autosomal dominant disorder has a child, there is a 50% chance that their child will inherit the condition.  In some families the condition is due to mutations in a gene called APOB, in other families the underlying mutation has not been identified. People with this condition usually do not experience symptoms. People who inherit two hypobetalipoproteinemia gene mutations may have extremely low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). Some of these individuals have no symptoms while others  have developed fatty liver, intestinal fat malabsorption, and neurological problems. Abetalipoproteinemia is a rare disorder with approximately 100 cases described worldwide. Mutations in the MTTP gene cause abetalipoproteinemia. It is passed through families in an autosomal recessive pattern. Click here to learn more about autosomal recessive inheritance. The signs and symptoms of abetalipoproteinemia may include failure to thrive, diarrhea, abnormal star-shaped red blood cells, and fatty, foul-smelling stools in infants, nervous system impairment in children, retinitis pigmentosa and difficulty with balance and walking in childhood or adulthood. Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide and is also inherited in an autosomal recessive pattern. The signs and symptoms appear in the first few months of life and may include failure to thrive, diarrhea, fatty, foul-smelling stools, and later nervous system impairment. Other genetic conditions characterized by hypolipoproteinemia include, but is not limited to: Lecithin acyltransferase deficiency Tangier Disease
Question: What are the symptoms of Leri pleonosteosis ?

Answer: What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. 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 form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Brachydactyly syndrome 90% Camptodactyly of finger 90% Genu recurvatum 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Short stature 90% Thickened skin 90% Upslanted palpebral fissure 90% Abnormally straight spine 50% Blepharophimosis 50% Cubitus valgus 50% Scoliosis 50% Elbow dislocation 7.5% Strabismus 7.5% Microcornea 5% Abnormality of the carpal bones - Abnormality of the vertebral column - Autosomal dominant inheritance - Broad metacarpals - Broad thumb - Enlarged interphalangeal joints - Hallux valgus - Joint stiffness - Laryngeal stenosis - Pes cavus - Short metacarpal - Short metatarsal - Short palm - Short stepped shuffling gait - Short thumb - 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) Thrombocythemia and Thrombocytosis ?

Answer: Thrombocythemia (THROM-bo-si-THE-me-ah) and thrombocytosis (THROM-bo-si-TO-sis) are conditions in which your blood has a higher than normal number of platelets (PLATE-lets).
                
Platelets are blood cell fragments. They're made in your bone marrow along with other kinds of blood cells.
                
Platelets travel through your blood vessels and stick together (clot). Clotting helps stop any bleeding that may occur if a blood vessel is damaged. Platelets also are called thrombocytes (THROM-bo-sites) because a blood clot also is called a thrombus.
                
A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood.
                
Overview
                
The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia.
                
This condition occurs if faulty cells in the bone marrow make too many platelets. Bone marrow is the sponge-like tissue inside the bones. It contains stem cells that develop into red blood cells, white blood cells, and platelets. What causes the bone marrow to make too many platelets often isn't known.
                
With primary thrombocythemia, a high platelet count may occur alone or with other blood cell disorders. This condition isn't common.
                
When another disease or condition causes a high platelet count, the term "thrombocytosis" is preferred. This condition often is called secondary or reactive thrombocytosis. Secondary thrombocytosis is more common than primary thrombocythemia.
                
Often, a high platelet count doesn't cause signs or symptoms. Rarely, serious or life-threatening symptoms can develop, such as blood clots and bleeding. These symptoms are more likely to occur in people who have primary thrombocythemia.
                
Outlook
                
People who have primary thrombocythemia with no signs or symptoms don't need treatment, as long as the condition remains stable.
                
Other people who have this condition may need medicines or procedures to treat it. Most people who have primary thrombocythemia will live a normal lifespan.
                
Treatment and outlook for secondary thrombocytosis depend on its underlying cause.
Question: How to diagnose Myelodysplastic/ Myeloproliferative Neoplasms ?

Answer: Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic/myeloproliferative neoplasms. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease such as an enlarged spleen and liver. A history of the patients health habits and past illnesses and treatments will also be taken.     -   Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following:                - The number of red blood cells and platelets.       - The number and type of white blood cells.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.       - The portion of the sample made up of red blood cells.              -   Peripheral blood smear : A procedure in which a sample of blood is checked for blast cells, the number and kinds of white blood cells, the number of platelets, and changes in the shape of blood cells.    -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.     -   Bone marrow aspiration and biopsy : The removal of a small piece of bone and bone marrow by inserting a needle into the hipbone or breastbone. A pathologist views both the bone and bone marrow samples under a microscope to look for abnormal cells.  The following tests may be done on the sample of tissue that is removed:               -  Cytogenetic analysis : A test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes. The cancer cells in myelodysplastic/myeloproliferative neoplasms do not contain the Philadelphia chromosome that is present in chronic myelogenous leukemia.      -  Immunocytochemistry : A test that uses antibodies to check for certain antigens in a sample of bone marrow. The antibody is usually linked to a radioactive substance or a dye that causes the cells in the sample to light up under a microscope. This type of test is used to tell the difference between myelodysplastic/myeloproliferative neoplasms, leukemia, and other conditions.
Question: What are the symptoms of Schneckenbecken dysplasia ?

Answer: What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. 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 pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the metaphyses 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Short neck 90% Sprengel anomaly 90% Abnormality of the fingernails 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplastic toenails 50% Accelerated skeletal maturation 7.5% Cleft palate 7.5% Tarsal synostosis 7.5% Advanced ossification of carpal bones - Advanced tarsal ossification - Anterior rib cupping - Autosomal recessive inheritance - Brachydactyly syndrome - Disproportionate short-limb short stature - Dumbbell-shaped long bone - Flat acetabular roof - Flat midface - Hypoplastic scapulae - Lateral clavicle hook - Metaphyseal irregularity - Ovoid vertebral bodies - Short ribs - 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 Hypotension ?

Answer: Orthostatic Hypotension and Neurally Mediated Hypotension
                
The signs and symptoms of orthostatic hypotension and neurally mediated hypotension (NMH) are similar. They include:
                
Dizziness or light-headedness
                
Blurry vision
                
Confusion
                
Weakness
                
Fatigue (feeling tired)
                
Nausea (feeling sick to your stomach)
                
Orthostatic hypotension may happen within a few seconds or minutes of standing up after you've been sitting or lying down.
                
You may feel that you're going to faint, or you may actually faint. These signs and symptoms go away if you sit or lie down for a few minutes until your blood pressure adjusts to normal.
                
The signs and symptoms of NMH occur after standing for a long time or in response to an unpleasant, upsetting, or scary situation. The drop in blood pressure with NMH doesn't last long and often goes away after sitting down.
                
Severe Hypotension Linked to Shock
                
In shock, not enough blood and oxygen flow to the body's major organs, including the brain. The early signs and symptoms of reduced blood flow to the brain include light-headedness, sleepiness, and confusion.
                
In the earliest stages of shock, it may be hard to detect any signs or symptoms. In older people, the first symptom may only be confusion.
                
Over time, as shock worsens, a person won't be able to sit up without passing out. If the shock continues, the person will lose consciousness. Shock often is fatal if not treated right away.
                
Other signs and symptoms of shock vary, depending on what's causing the shock. When low blood volume (from major blood loss, for example) or poor pumping action in the heart (from heart failure, for example) causes shock:
                
The skin becomes cold and sweaty. It often looks blue or pale. If pressed, the color returns to normal more slowly than usual. A bluish network of lines appears under the skin.
                
The pulse becomes weak and rapid.
                
The person begins to breathe very quickly.
                
When extreme relaxation of blood vessels causes shock (such as in vasodilatory shock), a person feels warm and flushed at first. Later, the skin becomes cold and sweaty, and the person feels very sleepy.
                
Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911.
Question: What is (are) critical congenital heart disease ?

Answer: Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.  Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.  Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.  Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.  People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
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.
Question: What are the symptoms of Cleft palate short stature vertebral anomalies ?

Answer: What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. 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 form of the vertebral bodies 90% Abnormality of the metacarpal bones 90% Aganglionic megacolon 90% Brachydactyly syndrome 90% Carious teeth 90% Cleft palate 90% Cognitive impairment 90% Delayed skeletal maturation 90% Epicanthus 90% Genu recurvatum 90% Low-set, posteriorly rotated ears 90% Scoliosis 90% Short neck 90% Short nose 90% Short stature 90% Vertebral segmentation defect 90% Abnormality of bone mineral density 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Anteverted nares 50% Congenital diaphragmatic hernia 50% Facial asymmetry 50% Joint hypermobility 50% Laryngomalacia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Thin vermilion border 50% 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.