sarnsrun/medquad huggingface dataset:
Topic: Congenital dyserythropoietic anemia type 2
Question: What are the treatments for Congenital dyserythropoietic anemia type 2 ?
Answer: How might congenital dyserythropoietic anemia (CDA) type 2 be treated? The goal of CDA type 2 treatment is to address and prevent complications from anemia and iron overload. Most people with CDA type 2 develop iron overload, for some this is as early as in their 20's.  If a person with CDA type 2 has mild anemia, but evidence of iron loading, treatment may involve phlebotomy. An alternative treatment is chelation therapy. In particular, chelation therapy is preferred for people with iron (ferritin) levels greater than 1000 mg/L. The Iron Disorders Institute provides information on chelation therapy through their Web site at: http://www.irondisorders.org/chelation-therapy Many people with CDA-2 maintain hemoglobin levels just above the threshold for symptoms. Mild anemia may not need treatment, as long as it doesn't worsen.  Less commonly CDA-2 causes severe anemia. Treatment of severe anemia may involve blood transfusions. Blood transfusions can raise iron levels so, careful monitoring and treatment for iron overload is required. The National Heart, Lung, and Blood Institute offers tips for living with hemolytic anemia at the following link: http://www.nhlbi.nih.gov/health/health-topics/topics/ha/livingwith Splenectomy is considered for people with CDA-2 and severe anemia. Splenectomy can cause a consistent rise in hemoglobin values. The spleen, however, is important in fighting infection.  People, particularly children, who have had a splenectomy are more likely to contract a serious and possibly life-threatening infection (sepsis). This risk must be carefully weighed. Splenectomy does not affect iron overload. Lastly, people with very severe CDA-2 may be candidates for hematopoietic stem cell transplantation (HSCT). Currently this is the only available curative treatment for CDA-2.
Source: GARD
Topic: Sarcosinemia
Question: What are the symptoms of Sarcosinemia ?
Answer: What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. 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 - Hypersarcosinemia - 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.
Source: GARD
Topic: Lipedema
Question: What is (are) Lipedema ?
Answer: Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful.  It is a common condition affecting up to 11% of women  The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs. Hormones are also thought to play a role.
Source: GARD
Topic: Lipedema
Question: What are the symptoms of Lipedema ?
Answer: What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI). The feet are much less involved or spared entirely. In lipedema, the skin does not appear warty, hard (sclerotic), or discolored. Lipedema is not thought to predispose a person to ulcer development. People with lipedema may tend to bruise easily, possibly due to increased fragility of small blood vessel within the fat tissue.
Source: GARD
Topic: Lipedema
Question: What causes Lipedema ?
Answer: What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause). Although people who are obese may be overrepresented among those with lipedema, persons of normal weight are also commonly affected. As a result, obesity alone is unlikely to be a major determinant of this syndrome. Many people with lipedema have a family history of similarly enlarged legs. At this time the role of genetics in the causation of lipedema is unknown.
Source: GARD
Topic: Lipedema
Question: What are the treatments for Lipedema ?
Answer: How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system. While, compression therapy may not do much to improve the lipedema, it may help prevent worsening and progression to lymphedema (lipolymphedema).
Source: GARD
Topic: CHOPS syndrome
Question: What is (are) CHOPS syndrome ?
Answer: CHOPS syndrome is rare condition that affects many different parts of the body. "CHOPS" is an acronym for the primary signs and symptoms associated with the condition, including cognitive impairment, coarse facial features, heart defects, obesity, pulmonary (lung) problems, short stature, and skeletal abnormalities. CHOPS syndrome is caused by changes (mutations) in the AFF4 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: CHOPS syndrome
Question: What are the symptoms of CHOPS syndrome ?
Answer: What are the signs and symptoms of CHOPS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHOPS 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) Cataract 5% Hearing impairment 5% Horseshoe kidney 5% Optic atrophy 5% Abnormality of the cardiac septa - Aspiration pneumonia - Brachydactyly syndrome - Chronic lung disease - Coarse facial features - Cryptorchidism - Downturned corners of mouth - Gastroesophageal reflux - Hypertelorism - Intellectual disability - Laryngomalacia - Long eyelashes - Obesity - Patent ductus arteriosus - Proptosis - Round face - Short nose - Short stature - Thick eyebrow - Thick hair - Tracheal stenosis - Vesicoureteral reflux - 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.
Source: GARD
Topic: 2-methyl-3-hydroxybutyric aciduria
Question: What is (are) 2-methyl-3-hydroxybutyric aciduria ?
Answer: 2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.
Source: GARD
Topic: 2-methyl-3-hydroxybutyric aciduria
Question: What are the symptoms of 2-methyl-3-hydroxybutyric aciduria ?
Answer: What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. 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) Choreoathetosis - Delayed speech and language development - Developmental regression - Hypertrophic cardiomyopathy - Hypoglycemia - Infantile onset - Intellectual disability - Lactic acidosis - Metabolic acidosis - Muscular hypotonia - Nystagmus - Progressive neurologic deterioration - Restlessness - Retinal degeneration - Seizures - Sensorineural hearing impairment - 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.
Source: GARD
Topic: Camptodactyly taurinuria
Question: What are the symptoms of Camptodactyly taurinuria ?
Answer: What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. 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 dominant inheritance - Increased urinary taurine - Knee dislocation - 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.
Source: GARD
Topic: Klatskin tumor
Question: What is (are) Klatskin tumor ?
Answer: Klatskin tumors are tumors that affect the upper part of the bile duct where it divides to enter the right and left parts of the liver. One or both sides may be affected. Individuals with Klatskin tumors often present with jaundice and/or abnormal liver tests. Treatment may involve surgical removal of the tumor. Not all tumors can be removed. Prognosis for cases that cannot be removed (non-resectable tumors) is poor.
Source: GARD
Topic: Klatskin tumor
Question: What are the symptoms of Klatskin tumor ?
Answer: What are the signs and symptoms of Klatskin tumor? The symptoms associated with Klatskin tumors are usually due to blocked bile ducts. Symptoms may include: Jaundice Itching Light colored stools and/or dark urine Abdominal pain Loss of appetite / weight loss Fever Nausea / vomiting The Human Phenotype Ontology provides the following list of signs and symptoms for Klatskin tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Biliary tract neoplasm 90% Hepatomegaly 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Lymphadenopathy 7.5% Thrombophlebitis 7.5% Weight loss 7.5% 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.
Source: GARD
Topic: Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features
Question: What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ?
Answer: What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. 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) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - 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.
Source: GARD
Topic: Neurofaciodigitorenal syndrome
Question: What are the symptoms of Neurofaciodigitorenal syndrome ?
Answer: What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal 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 antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - 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.
Source: GARD
Topic: Ectopia pupillae
Question: What are the symptoms of Ectopia pupillae ?
Answer: What are the signs and symptoms of Ectopia pupillae? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectopia pupillae. 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 dominant inheritance - Ectopia pupillae - 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.
Source: GARD
Topic: Spondylocostal dysostosis 2
Question: What is (are) Spondylocostal dysostosis 2 ?
Answer: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.  Spondylocostal dysostosis 2 is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Source: GARD