sarnsrun/medquadmini huggingface dataset:
Question:
What is (are) Light chain deposition disease ?

Answer:
Light chain deposition disease (LCDD) involves the immune system, the body's system of protecting ourselves against infection. The body fights infection with antibodies. Antibodies are made up of small protein segments called light chains and heavy chains. People with LCDD make  too many light chains which get deposited in many different tissues and organs of the body. While LCDD can occur in any organ, the kidneys are always involved. Deposits of light chains can also occur in the liver, heart, small intestine, spleen, skin, nervous system and bone marrow. Additionally, about 50-60% of patients with LCDD have multiple myeloma and 17% have a disease called monoclonal gammopathy of unknown significance (MGUS). Early signs and symptoms of light chain deposition disease may include protein in the urine, high blood pressure, decreased kidney function, and nephrotic syndrome. The goal of treatment in patients with LCDD is to stop/decrease the production of light chains and damage to organs. Treatment options can include: autologous stem cell transplantation; a drug called Bortezomib; a class of drugs called immunomodulatory drugs; and kidney transplant.
Question:
Is Light chain deposition disease inherited ?

Answer:
Is light chain deposition disease a genetic/inheritable disease? Currently, we are not aware of inherited genes or genetic factors that would increase a persons risk for developing light chain deposition disease. You can read more about risk factors for multiple myeloma and monoclonal gammopathy of undetermined significance at the following links to the MayoClinic.com Website. Multiple myeloma risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors Monoclonal gammopathy of undetermined significance risk factors: http://www.mayoclinic.com/health/multiple-myeloma/DS00415/DSECTION=risk-factors
Question:
What are the symptoms of Gestational trophoblastic tumor ?

Answer:
What are the signs and symptoms of Gestational trophoblastic tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Gestational trophoblastic tumor. 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 menstrual cycle 90% Spontaneous abortion 90% Neoplasm of the liver 50% Neoplasm of the lung 50% Neoplasm of the nervous system 50% Renal neoplasm 50% Vaginal neoplasm 50% Abnormality of the genitourinary system - Autosomal recessive inheritance - 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) Neuroblastoma ?

Answer:
Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5.  It occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body.  It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).  The symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell.  It affects one out of 100,000 children.  The exact cause of this tumor is not yet known.  Neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (MRI), or computed tomography (CT) scans; and a biopsy.  Treatment depends on the size and location of the tumor within the body, as well as the childs age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases.
Question:
What are the symptoms of Neuroblastoma ?

Answer:
What are the signs and symptoms of Neuroblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroblastoma. 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) Neoplasm of the nervous system 90% Abdominal pain - Abnormality of the thorax - Anemia - Ataxia - Autosomal dominant inheritance - Bone pain - Diarrhea - Elevated urinary dopamine - Elevated urinary homovanillic acid - Elevated urinary vanillylmandelic acid - Failure to thrive - Fever - Ganglioneuroblastoma - Ganglioneuroma - Heterogeneous - Horner syndrome - Hypertension - Incomplete penetrance - Myoclonus - Neuroblastoma - Opsoclonus - Skin nodule - Spinal cord compression - Sporadic - 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.
Question:
What is (are) Friedreich ataxia ?

Answer:
Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.
Question:
What causes Friedreich ataxia ?

Answer:
What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.
Question:
Is Friedreich ataxia inherited ?

Answer:
How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question:
What are the symptoms of Chylomicron retention disease ?

Answer:
What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention 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 blood and blood-forming tissues - Abnormality of the eye - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Growth delay - Hypoalbuminemia - Hypobetalipoproteinemia - Hypocholesterolemia - Infantile onset - Intellectual disability - Malnutrition - Steatorrhea - Vomiting - 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 COASY Protein-Associated Neurodegeneration ?

Answer:
What are the signs and symptoms of COASY Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for COASY Protein-Associated Neurodegeneration . 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) Pes cavus 5% Autosomal recessive inheritance - Bradykinesia - Developmental regression - Distal amyotrophy - Dysarthria - Hyporeflexia - Mental deterioration - Motor axonal neuropathy - Neurodegeneration - Obsessive-compulsive behavior - Oromandibular dystonia - Progressive - Rigidity - Spastic paraparesis - Spastic tetraplegia - Toe walking - 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) Aicardi-Goutieres syndrome type 3 ?

Answer:
Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
Question:
What are the symptoms of Aicardi-Goutieres syndrome type 3 ?

Answer:
What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. 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 - Cerebral calcification - CSF lymphocytic pleiocytosis - Death in childhood - Delayed myelination - Dystonia - Elevated hepatic transaminases - Encephalopathy - Hepatosplenomegaly - Hyperreflexia - Hypoplasia of the corpus callosum - Muscular hypotonia - Nystagmus - Progressive microcephaly - Severe global developmental delay - Spasticity - Thrombocytopenia - 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 Tuberous sclerosis, type 2 ?

Answer:
What are the signs and symptoms of Tuberous sclerosis, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 2. 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) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - 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) Fallopian tube cancer ?

Answer:
Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecologic cancers.  Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of the different cell types that make up the fallopian tubes. The most common type is called adenocarcinoma (a cancer of cells from glands). Leiomyosarcoma (a cancer of smooth muscle cells) and transitional cell carcinoma (a cancer of the cells lining the fallopian tubes) are more rare.  While some fallopian tube cancers actually begin in the tubes themselves, fallopian tube cancer is more often the result of cancer spreading from other parts of the body to the tubes. For example, the fallopian tubes are a common site of metastasis (spread) of cancers that started in the ovaries, uterus, endometrium, (the tissue lining the uterus) appendix, or colon.  Women with fallopian tube cancer may experience symptoms, although some affected women may have no symptoms at all. The signs of fallopian tube cancer are often non-specific, meaning that they can also be signs of other medical conditions that are not cancer. Signs and symptoms of fallopian tube cancer can include: irregular or heavy vaginal bleeding (especially after menopause); occasional abdominal or pelvic pain or feeling of pressure; vaginal discharge that may be clear, white, or tinged with blood; and a pelvic mass or lump. Doctors use many tests to diagnose cancer of the fallopian tubes. Some of these tests may include: pelvic examination, transvaginal ultrasound, a blood test that measures the tumor marker CA-125, computed tomography (CT or CAT) scan, and magnetic resonance imaging (MRI). Fallopian tube cancer can be best treated when detected early. If the cancer has spread to the walls of the tubes or outside of the tubes, then there is a lower chance that the disease can be treated successfully. The stage of the cancer determines the type of treatment needed. Most women will need surgery and some will go on to have chemotherapy and/or radiation therapy. [1] [2]
Question:
What are the symptoms of Progressive supranuclear palsy atypical ?

Answer:
What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. 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 pyramidal signs - Adult onset - Dementia - Kyphoscoliosis - Morphological abnormality of the pyramidal tract - Ophthalmoparesis - Parkinsonism - Rigidity - Tremor - 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 Juvenile myelomonocytic leukemia ?

Answer:
What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. 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) Juvenile myelomonocytic leukemia - Somatic mutation - 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.