sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Alopecia intellectual disability syndrome 2 ?

Answer:
What are the signs and symptoms of Alopecia intellectual disability syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia intellectual disability syndrome 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) Alopecia universalis - Autosomal recessive inheritance - Intellectual disability - 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 Aromatase excess syndrome ?

Answer:
What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess 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) Accelerated skeletal maturation - Autosomal dominant inheritance - Gynecomastia - 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.
Question:
What are the symptoms of Ring chromosome 10 ?

Answer:
What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. 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 antihelix 90% Abnormality of the nipple 90% Abnormality of the nose 90% Aganglionic megacolon 90% Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Decreased body weight 90% Frontal bossing 90% Hypertelorism 90% Hypocalcemia 90% Intrauterine growth retardation 90% Large earlobe 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Pectus excavatum 90% Renal hypoplasia/aplasia 90% Sandal gap 90% Seizures 90% Short neck 90% Tapered finger 90% Thin vermilion border 90% 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) Dentinogenesis imperfecta ?

Answer:
Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. This can affect both primary (baby) and permanent teeth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. There are three types of dentinogenesis imperfecta. Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. Type II and type III: usually occur in people without another inherited disorder. Some families with type II also have progressive hearing loss. Type III was first identified in a population in Brandywine, Maryland. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.
Question:
What causes Dentinogenesis imperfecta ?

Answer:
What causes dentinogenesis imperfecta? Mutations in the DSPP gene cause dentinogenesis imperfecta. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. DSPP mutations alter the proteins made from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.
Question:
Is Dentinogenesis imperfecta inherited ?

Answer:
How do people inherit dentinogenesis imperfecta? Dentinogenesis imperfecta is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Question:
What are the treatments for Dentinogenesis imperfecta ?

Answer:
How might dentinogenesis imperfecta be treated? The aims of treatment are to remove sources of infection or pain, restore aesthetics and protect posterior teeth from wear. Treatment varies according to the age of the patient, severity of the problem and the presenting complaint. Crowns, caps or other forms of dental care are the most commonly used treatments. Dentures or dental implants may be necessary if the majority of teeth are lost. More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links: https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/ http://www.ojrd.com/content/3/1/31
Question:
What is (are) Crusted scabies ?

Answer:
Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mites and eggs. The usual features of scabies (itching and a rash) are often absent. Crusted scabies  is very contagious and can spread easily both by direct skin-to-skin contacts and through contaminated items such as clothing, bedding, and furniture. People with crusted scabies should receive quick and agressive medical treatment for their infestation to prevent outbreaks of scabies. Ivermectin is commonly used to treat this form of scabies.
Question:
What is (are) Budd-Chiari syndrome ?

Answer:
Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction of the veins of the liver. This narrowing or obstruction slows or prevents blood from flowing out of the liver and back to the heart which can lead to liver damage. While some people experience no symptoms, many experience fatigue, abdominal pain, nausea, and jaundice. Other associated findings include an accumulation of fluid in the abdomen (ascites), an enlarged spleen and/or liver, and severe bleeding in the esophagus. The severity of the disorder varies from case to case, depending on the site and number of affected veins. Drugs may be used to dissolve or decrease the size of the obstruction (if it is a clot). In some cases surgery is performed. In most cases, the cause of Budd-Chiari syndrome is unknown.
Question:
What are the symptoms of Budd-Chiari syndrome ?

Answer:
What are the signs and symptoms of Budd-Chiari syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Budd-Chiari 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) Ascites 90% Portal hypertension 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Cirrhosis 50% Elevated hepatic transaminases 50% Esophageal varix 50% Hepatomegaly 50% Acute hepatic failure 7.5% Biliary tract abnormality 7.5% Gastrointestinal hemorrhage 7.5% Gastrointestinal infarctions 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Peritonitis 7.5% Weight loss 7.5% Budd-Chiari syndrome - Hepatocellular carcinoma - 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 treatments for Budd-Chiari syndrome ?

Answer:
How might Budd-Chiari syndrome be treated? The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include: Blood-thinning (anticoagulation) medications Clot-busting drugs (thrombolytic treatment) Treatment for the liver disease, including ascites Surgical treatments may also be considered and include: Angioplasty and stent placement Transjugular intrahepatic portosystemic shunt (TIPS) Venous shunt surgery While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%). You can view more detailed information regarding the medical and surgical options for treatment of Budd-Chiari syndrome by clicking here.
Question:
What are the symptoms of Thalamic degeneration, symmetric infantile ?

Answer:
What are the signs and symptoms of Thalamic degeneration, symmetric infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration, symmetric infantile. 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) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 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.
Question:
What are the symptoms of Liver failure acute infantile ?

Answer:
What are the signs and symptoms of Liver failure acute infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Liver failure acute infantile. 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) Abdominal distention - Abnormality of the coagulation cascade - Acute hepatic failure - Autosomal recessive inheritance - Elevated hepatic transaminases - Feeding difficulties in infancy - Hepatomegaly - Hyperbilirubinemia - Increased serum lactate - Jaundice - Lactic acidosis - Macrovesicular hepatic steatosis - Microvesicular hepatic steatosis - Mitochondrial respiratory chain defects - Muscular hypotonia - 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 Autosomal recessive axonal neuropathy with neuromyotonia ?

Answer:
What are the signs and symptoms of Autosomal recessive axonal neuropathy with neuromyotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive axonal neuropathy with neuromyotonia. 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 foot - Autosomal recessive inheritance - Elevated serum creatine phosphokinase - Fasciculations - Foot dorsiflexor weakness - Hyperhidrosis - Muscle cramps - Muscle stiffness - Myokymia - Myotonia - Progressive - Sensory axonal neuropathy - Skeletal muscle atrophy - 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) Hereditary sensory neuropathy type 1 ?

Answer:
Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time.  HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy.
Question:
What are the symptoms of Hereditary sensory neuropathy type 1 ?

Answer:
What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. 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 - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - Skeletal muscle atrophy - 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:
Is Hereditary sensory neuropathy type 1 inherited ?

Answer:
How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new (de novo) mutation in a person without an affected parent.
Question:
How to diagnose Hereditary sensory neuropathy type 1 ?

Answer:
Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified HSN1C is caused by mutations in the SPTLC2 gene HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A) HSN1E is caused by mutations in the DNMT1 gene The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1. If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms.
Question:
What are the treatments for Hereditary sensory neuropathy type 1 ?

Answer:
How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains.
Question:
What is (are) Noonan syndrome 6 ?

Answer:
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.