Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Microphthalmia syndromic 7 ? 
 What are the signs and symptoms of Microphthalmia syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 7. 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) Aplasia/Hypoplasia affecting the eye 90% Aplasia/Hypoplasia of the skin 90% Congenital diaphragmatic hernia 90% Irregular hyperpigmentation 90% Malar flattening 90% Opacification of the corneal stroma 90% Sclerocornea 90% Abnormal facial shape 50% Abnormality of retinal pigmentation 50% Abnormality of the cardiac septa 50% Abnormality of the nose 50% Abnormality of the vitreous humor 50% Arrhythmia 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Short stature 50% Intellectual disability, progressive 24% Abnormality of dental enamel 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the gastrointestinal tract 7.5% Abnormality of the mitral valve 7.5% Abnormality of the nail 7.5% Abnormality of the testis 7.5% Abnormality of the tricuspid valve 7.5% Anterior creases of earlobe 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chorioretinal abnormality 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Female pseudohermaphroditism 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Male pseudohermaphroditism 7.5% Microcephaly 7.5% Neurological speech impairment 7.5% Posterior embryotoxon 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Seizures 7.5% Visual impairment 7.5% Abnormality of metabolism/homeostasis - Absent septum pellucidum - Agenesis of corpus callosum - Anal atresia - Anteriorly placed anus - Asymmetric, linear skin defects - Atria septal defect - Cataract - Chordee - Clitoral hypertrophy - Colpocephaly - Hypoplasia of the uterus - Hypospadias - Iris coloboma - Micropenis - Microphthalmia - Oncocytic cardiomyopathy - Overriding aorta - Ovotestis - Pigmentary retinopathy - Ventricular septal defect - X-linked dominant 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.
What is (are) Polycystic ovarian syndrome ? 
 Polycystic ovarian syndrome (PCOS) is a health problem that can affect a woman's menstrual cycle, ability to have children, hormones, heart, blood vessels, and appearance. Women with this condition typically have high levels of  hormones called androgens, missed or irregular periods, and many small cysts in their ovaries. The cause of PCOS is unknown, but probably involves a combination of genetic and environmental factors. Treatment for PCOS may involve birth control pills and medications for diabetes and infertility. Medicines called anti-androgens are also used to speed the growth of hair and clear acne.
What are the symptoms of Polycystic ovarian syndrome ? 
 What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian 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 metabolism/homeostasis - Amenorrhea - Autosomal dominant inheritance - Enlarged polycystic ovaries - Hirsutism - Obesity - Oligomenorrhea - 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) Acanthoma ? 
 An acanthoma is a small, reddish bump that usually develops on the skin of an older adult.  There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma".  Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many.  The exact cause of acanthoma is not known; it is sometimes called a benign tumor, and sometimes described as the result of inflammation.  Acanthomas are not considered dangerous and do not require treatment, but they may be removed for cosmetic reasons or to relieve any associated symptoms.
What are the treatments for Acanthoma ? 
 How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms.  Because acanthomas are quite rare, there are no established guidelines for treatment.  Treatment may depend on the type, number, and location of acanthomas.  For example, a single acanthoma may be removed by surgery, whereas multiple acanthomas may be treated with cryosurgery or the use of the medication fluorouracil cream.
What are the symptoms of Negative rheumatoid factor polyarthritis ? 
 What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. 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) Autoimmune antibody positivity - 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) Progressive myoclonic epilepsy ? 
 Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions (myoclonus) and seizures (epilepsy). PME is different from myoclonic epilepsy. Other features include dementia, dystonia, and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence.
What is (are) Children's interstitial lung disease ? 
 Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe.  All types of chILD decrease a child's ability to supply oxygen to their body.  These diseases make it difficult for the lungs to exchange oxygen and carbon dioxide and can cause fluid and other materials to collect in the lungs.  Early diagnosis and treatment is important for any type of chILD.  See the Children's Interstitial Lung Disease Foundation to see a list of different ILDs and to find more information about diagnosis, treatment and help finding a specialist.
What are the treatments for Children's interstitial lung disease ? 
 How might chILD be treated? There is no single treatment for interstitial lung diseases in children.  Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse.  See the Children's Interstitial and Diffuse Lung Disease Foundation for more detailed information about treatment.
What is (are) Richter syndrome ? 
 Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding and bruising).
What are the treatments for Richter syndrome ? 
 Are there any recent advancements in the treatment of Richter syndrome? Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with  chemotherapy and steroids to treat Richter syndrome. Researchers in a trial called the CHOP-OR study are studying whether a new biological therapy similar to rituximab can make CHOP chemotherapy work better. The new biological therapy drug is called ofatumumab (Arzerra). People who have been recently diagnosed with Richter syndrome can participate in this study. The study has two parts. First, patients have ofatumumab with CHOP chemotherapy to eliminate the lymphoma (this is called induction treatment). They then have more ofatumumab on its own to try to stop the lymphoma from coming back (this is called maintenance treatment). CLICK HERE to learn more about this study. Stem cell transplant is another way of treating Richter syndrome. While only a few people have undergone stem cell transplant for treatment of this disease, so far it has appeared to work quite well. The disease was controlled for longer than in people having normal dose chemotherapy. However, because stem cell transplants have serious side effects and complications, they are only suitable for a small group of people. More research is needed before we can truly find out how well stem cell treatment works for people with Richter syndrome. A recent study showed that a chemotherapy regimen called OFAR (a combination of oxaliplatin, fludarabine, cytarabine, and rituximab) had significant antileukemic activity in patients with Richter syndrome and relapsed/refractory CLL. Patients who underwent stem cell therapy as post-remission therapy had even more favorable outcomes.
What is (are) Stenotrophomonas maltophilia infection ? 
 Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to infection, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria). S. maltophilia bacteria are resistant to many types of antibiotics; however, most strains can be treated with trimethoprim-sulfamethoxazole treatment.
What are the symptoms of Stenotrophomonas maltophilia infection ? 
 What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. maltophilia) infections are generally related to the organ system(s) involved. The most common manifestations are pneumonia and bacteremia. Less commonly, people infected by S. maltophilia may experience endocarditis, mastoiditis, peritonitis, meningitis, soft tissue infections, wound infections, urinary tract infections, and/or eye infections.
What causes Stenotrophomonas maltophilia infection ? 
 What causes Stenotrophomonas maltophilia infection? Stenotrophomonas maltophilia (S. maltophilia) infections are caused by the S. maltophilia bacteria. These bacteria live in various aquatic (water-based) environments. In a hospital setting, they are able to survive and multiply in fluids such as respiratory secretions, urine, and intravenous (IV) fluids. Most healthy people do not get S. maltophilia infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria).
How to diagnose Stenotrophomonas maltophilia infection ? 
 How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria.
What are the treatments for Stenotrophomonas maltophilia infection ? 
 How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibiotics may be considered. Combination therapy may be necessary in life-threatening cases. The duration of therapy largely depends on the site of infection. More detailed information about medications used to treat S. maltophilia infection is available in Medscape Reference and can be viewed by clicking here. This information is intended for informational purposes only. People seeking treatment for S. maltophilia infection should consult with their health care provider.
What is (are) Tarsal carpal coalition syndrome ? 
 Tarsal carpal coalition syndrome is a genetic condition characterized by fusion of the bones in the wrist (carpals), feet (tarsals), and the fingers and toes (phalanges). Other bone abnormalities in the hands and feet may be present. Approximately 10 affected families have been described. Tarsal carpal coalition syndrome is caused by mutations in the NOD gene, and it is inherited in an autosomal dominant pattern.
What are the symptoms of Tarsal carpal coalition syndrome ? 
 What are the signs and symptoms of Tarsal carpal coalition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tarsal carpal coalition 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 ankles 90% Short stature 90% Tarsal synostosis 90% Carpal synostosis 75% Proximal symphalangism (hands) 75% Radial deviation of finger 75% Short 1st metacarpal 75% Cubitus valgus 7.5% Distal symphalangism (hands) 7.5% Humeroradial synostosis 7.5% Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Progressive fusion 2nd-5th pip joints - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Testicular cancer ? 
 What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. 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 metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - 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 Maple syrup urine disease type 1B ? 
 What are the signs and symptoms of Maple syrup urine disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1B. 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) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - 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.
What is (are) Achondrogenesis type 1A ? 
 Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene.