Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ? 
 What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. 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 - Congenital adrenal hyperplasia - Increased circulating ACTH level - 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.
What is (are) Stiff person syndrome ? 
 Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG).
What are the symptoms of Stiff person syndrome ? 
 What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person 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) Adult onset - Agoraphobia - Anemia - Anxiety - Asymmetric limb muscle stiffness - Autoimmunity - Axial muscle stiffness - Depression - Exaggerated startle response - Fever - Frequent falls - Hyperhidrosis - Hyperreflexia - Hypertension - Lumbar hyperlordosis - Myoclonic spasms - Opisthotonus - Proximal limb muscle stiffness - Rigidity - Sporadic - Tachycardia - Vitiligo - 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.
What causes Stiff person syndrome ? 
 What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood.
Is Stiff person syndrome inherited ? 
 Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established.  While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role.
How to diagnose Stiff person syndrome ? 
 Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive.
What are the treatments for Stiff person syndrome ? 
 How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective for some people. More recently, studies have shown that intravenous immunoglobulin (IVIG) is effective in improving many of the symptoms of SPS. Research involving additional treatment options for SPS is ongoing. Additional information about the treatment of stiff person syndrome can be viewed on Medscape Reference's Web site.
What is (are) Dextrocardia ? 
 Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia.  The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart.  Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present.
What is (are) Werner's syndrome ? 
 Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications.
What are the symptoms of Werner's syndrome ? 
 What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's 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 hair quantity 90% Abnormal hair whorl 90% Abnormality of the thorax 90% Cataract 90% Convex nasal ridge 90% Lipoatrophy 90% Pili torti 90% Prematurely aged appearance 90% Short stature 90% White forelock 90% Abnormality of retinal pigmentation 50% Abnormality of the pulmonary artery 50% Abnormality of the testis 50% Abnormality of the voice 50% Aplasia/Hypoplasia of the skin 50% Chondrocalcinosis 50% Congestive heart failure 50% Coronary artery disease 50% Decreased fertility 50% Diabetes mellitus 50% Hyperkeratosis 50% Increased bone mineral density 50% Lack of skin elasticity 50% Narrow face 50% Reduced bone mineral density 50% Rocker bottom foot 50% Short palm 50% Skeletal muscle atrophy 50% Skin ulcer 50% Telangiectasia of the skin 50% Abnormality of the cerebral vasculature 7.5% Hypertension 7.5% Laryngomalacia 7.5% Limitation of joint mobility 7.5% Meningioma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neoplasm of the oral cavity 7.5% Neoplasm of the skin 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the thyroid gland 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Secondary amenorrhea 7.5% Abnormality of the hair - Autosomal recessive inheritance - Hypogonadism - Osteoporosis - Osteosarcoma - Premature arteriosclerosis - Progeroid facial appearance - Retinal degeneration - Subcutaneous calcification - 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.
What are the symptoms of Penttinen-Aula syndrome ? 
 What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula 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) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - 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.
What is (are) Glucocorticoid-remediable aldosteronism ? 
 Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels.
What are the symptoms of Glucocorticoid-remediable aldosteronism ? 
 What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. 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 urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Onset - 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.
What are the symptoms of Rommen Mueller Sybert syndrome ? 
 What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the nipple 50% Abnormality of the ribs 50% Anterior creases of earlobe 50% Downturned corners of mouth 50% Long palpebral fissure 50% Long philtrum 50% Plagiocephaly 50% Proximal placement of thumb 50% Single transverse palmar crease 50% Tetralogy of Fallot 50% Ventricular septal defect 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.
What are the symptoms of Keratolytic winter erythema ? 
 What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. 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) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - 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.
What is (are) Lynch syndrome ? 
 Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene.
What are the symptoms of Lynch syndrome ? 
 What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch 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) Anemia 90% Constipation 90% Gastrointestinal hemorrhage 90% Intestinal obstruction 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the rectum 90% Weight loss 90% Biliary tract neoplasm 50% Neoplasm of the nervous system 50% Neoplasm of the pancreas 50% Neoplasm of the small intestine 50% Neoplasm of the stomach 50% Ovarian neoplasm 50% Renal neoplasm 50% Uterine neoplasm 50% Ascites 7.5% Hepatomegaly 7.5% Nausea and vomiting 7.5% Recurrent urinary tract infections 7.5% Autosomal dominant inheritance - Colon cancer - 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.
What causes Lynch syndrome ? 
 What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or  EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.
Is Lynch syndrome inherited ? 
 Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.
How to diagnose Lynch syndrome ? 
 How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here.
What is (are) Mucopolysaccharidosis type IIIC ? 
 Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer.