randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of Renal dysplasia-limb defects syndrome ? 
 What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects 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) Abnormal form of the vertebral bodies 90% Abnormality of the fibula 90% Abnormality of the palate 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the radius 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Micromelia 90% Multicystic kidney dysplasia 90% Narrow mouth 90% Oligohydramnios 90% Respiratory insufficiency 90% Short stature 90% Talipes 90% Abnormality of the ribs 50% Aplasia/Hypoplasia of the cerebellum 50% Cleft upper lip 50% Humeroradial synostosis 50% Renal hypoplasia/aplasia 50% Short neck 50% Abnormality of the pinna - Absent ulna - Autosomal recessive inheritance - Clitoral hypertrophy - Cryptorchidism - Depressed nasal bridge - Fibular aplasia - High palate - Hypoplasia of the radius - Low-set ears - Maternal diabetes - Neonatal death - Phocomelia - Pneumothorax - Prominent occiput - Pulmonary hypoplasia - Renal dysplasia - Renal hypoplasia - Respiratory distress - Respiratory failure - Short metacarpal - Short ribs - Short sternum - Single umbilical artery - Talipes equinovarus - Thin ribs - Thin vermilion border - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Preaxial polydactyly type 1 ? 
 What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly 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) Preaxial hand polydactyly - Radial deviation of thumb terminal phalanx - 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.
This is a medical question of type : information 
 What is (are) Hemophilia ? 
 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.
This is a medical question of type : symptoms 
 What are the symptoms of Spinocerebellar ataxia 28 ? 
 What are the signs and symptoms of Spinocerebellar ataxia 28? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 28. 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) Dystonia 5% Parkinsonism 5% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked nystagmus - Limb ataxia - Lower limb hyperreflexia - Ophthalmoparesis - Ptosis - Slow progression - Slow saccadic eye movements - Spasticity - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Fallot complex with severe mental and growth retardation ? 
 What are the signs and symptoms of Fallot complex with severe mental and growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Fallot complex with severe mental and growth retardation. 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) Cognitive impairment 90% Macrotia 90% Short stature 90% Tetralogy of Fallot 90% Wide nasal bridge 90% Abnormality of the palate 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Microcephaly 50% Toe syndactyly 50% Hypertonia 7.5% Ptosis 7.5% Strabismus 7.5% Abnormality of the face - Autosomal recessive inheritance - Double outlet right ventricle - Failure to thrive - Intellectual disability - Pulmonic stenosis - Ventricular septal defect - 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.
This is a medical question of type : information 
 What is (are) WaterhouseFriderichsen syndrome ? 
 WaterhouseFriderichsen syndrome is adrenal gland failure due to bleeding into the adrenal gland. It is usually caused by severe meningococcal infection or other severe, bacterial infection. Symptoms include acute adrenal gland insufficiency, and profound shock. Most patients with this condition are children, although adults may rarely be affected. It is deadly if not treated immediately.
This is a medical question of type : symptoms 
 What are the symptoms of WaterhouseFriderichsen syndrome ? 
 What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patients often experience prodromic, nonspecific symptoms, including malaise, headache, weakness, dizziness, cough, arthralgia (joint pain), and myalgia (muscle pain).  A characteristic skin rash with a typical evolution occurs in approximately 75% of patients with Waterhouse-Friderichsen syndrome. In its early stages, the rash consists of small, pink macules or papules. These are rapidly followed by petechial lesions, which gradually transform into large, purpuric, coalescent plaques in late stages of the disease.
This is a medical question of type : causes 
 What causes WaterhouseFriderichsen syndrome ? 
 What causes Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is most often associated with meningococcal disease (accounts for 80% of cases). The syndrome also has been associated with other bacterial pathogens, including Streptococcus pneumoniae, group A beta-hemolytic streptococci, Neisseria gonorrhoeae, Escherichia coli, Klebsiella pneumoniae, Haemophilus influenzae (group B), Salmonella choleraesuis, Pasteurella multocida, Acinetobacter calcoaceticus, and Plesiomonas shigelloides. It may also be associated with a history of splenectomy. In rare cases, it may be caused by the use of medications that promote blood clotting, low platelet counts, primary antiphospholipid syndrome, renal vein thrombosis or steroid use. While the exact mechanism of disease is not clear, activation of several cytokine mediators appears to lead to sepsis and shock.
This is a medical question of type : treatment 
 What are the treatments for WaterhouseFriderichsen syndrome ? 
 How might Waterhouse-Friderichsen syndrome be treated? Treatment may include antibiotics and glucocorticoids.  Other treatment is symptomatic and supportive.
This is a medical question of type : information 
 What is (are) Neuroacanthocytosis ? 
 Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN).
This is a medical question of type : treatment 
 What are the treatments for Neuroacanthocytosis ? 
 How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
This is a medical question of type : information 
 What is (are) Lenz microphthalmia syndrome ? 
 Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body.  Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms may affect one or both eyes and may cause vision loss or blindness.  Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system and occasionally heart defects.  Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. Mutations in the BCOR gene cause some cases of Lenz microphthalmia syndrome. The other causative gene(s) have yet to be identified. This condition is inherited in an X-linked recessive fashion.
This is a medical question of type : information 
 What is (are) Denys-Drash syndrome ? 
 Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
This is a medical question of type : symptoms 
 What are the symptoms of Denys-Drash syndrome ? 
 What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash 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) Male pseudohermaphroditism 90% Nephroblastoma (Wilms tumor) 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Hypertension 50% Gonadal dysgenesis 7.5% Ambiguous genitalia, female - Ambiguous genitalia, male - Autosomal dominant inheritance - Congenital diaphragmatic hernia - Diffuse mesangial sclerosis - Focal segmental glomerulosclerosis - Gonadal tissue inappropriate for external genitalia or chromosomal sex - Ovarian gonadoblastoma - Somatic mutation - Stage 5 chronic kidney disease - True hermaphroditism - 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.
This is a medical question of type : causes 
 What causes Denys-Drash syndrome ? 
 What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis (where scar tissue forms throughout glomeruli, the tiny blood vessels in the kidney that filter waste from blood) and gonadal dysgenesis, which are characteristic features of Denys-Drash syndrome. The abnormal gene activity caused by the loss of normal WT1 protein also increases the risk of developing Wilms tumor in affected individuals.
This is a medical question of type : inheritance 
 Is Denys-Drash syndrome inherited ? 
 Is Denys-Drash syndrome inherited? Denys-Drash syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Denys-Drash syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
This is a medical question of type : information 
 What is (are) Microcephalic osteodysplastic primordial dwarfism type 1 ? 
 Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome.
This is a medical question of type : causes 
 What causes Microcephalic osteodysplastic primordial dwarfism type 1 ? 
 What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)? Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene.
This is a medical question of type : inheritance 
 Is Microcephalic osteodysplastic primordial dwarfism type 1 inherited ? 
 How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers 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.
This is a medical question of type : treatment 
 What are the treatments for Microcephalic osteodysplastic primordial dwarfism type 1 ? 
 How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life.
This is a medical question of type : symptoms 
 What are the symptoms of Transient bullous dermolysis of the newborn ? 
 What are the signs and symptoms of Transient bullous dermolysis of the newborn? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient bullous dermolysis of the newborn. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Cheilitis 50% Hypopigmented skin patches 50% Thin skin 50% Abnormality of metabolism/homeostasis - Atrophic scars - Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Fragile skin - Milia - Nail dystrophy - 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.