sarnsrun/medquad huggingface dataset:
Topic: Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Question: What are the symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities ?
Answer: What are the signs and symptoms of Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities. 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 - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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: Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Question: What are the symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA ?
Answer: What are the signs and symptoms of Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA. 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 renal tubule 90% Constipation 90% Irregular hyperpigmentation 90% Short stature 90% Cerebral cortical atrophy 50% Hearing impairment 50% Incoordination 50% Muscular hypotonia 50% Ptosis 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Abnormal electroretinogram 7.5% Visual impairment 7.5% Ataxia - Blindness - Blotching pigmentation of the skin - Dehydration - Developmental regression - Diarrhea - Failure to thrive - Hepatomegaly - Mitochondrial inheritance - Mottled pigmentation of photoexposed areas - Myoclonus - Ophthalmoparesis - Osteoporosis - Pigmentary retinal deposits - Polyuria - Proximal tubulopathy - Rickets - Undetectable electroretinogram - 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.
Source: GARD
Topic: Coloboma, cleft lip/palate and mental retardation syndrome
Question: What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ?
Answer: What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation 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) Chorioretinal coloboma 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia affecting the eye 50% Cognitive impairment 50% Hematuria 50% Iris coloboma 50% Oral cleft 50% Cataract 7.5% Glaucoma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% Optic atrophy 7.5% Posterior embryotoxon 7.5% Ptosis 7.5% Retinal detachment 7.5% Strabismus 7.5% Visual impairment 7.5% Cleft palate 5% Cleft upper lip 5% Intellectual disability 5% Microphthalmia 5% Autosomal 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: Multiple myeloma
Question: What is (are) Multiple myeloma ?
Answer: Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. Other features of the condition may include multiple infections; abnormal bleeding; bone pain; weak and/or easily broken bones; and numbness and/or weakness of the arms and legs. The exact underlying cause of multiple myeloma is currently unknown. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS). Treatment varies based on many factors, but may include one or more of the following interventions: chemotherapy, corticosteroid medications, targeted therapy, stem cell transplant, biological therapy, radiation therapy, surgery and/or watchful waiting.
Source: GARD
Topic: Multiple myeloma
Question: What are the symptoms of Multiple myeloma ?
Answer: What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include: Bone pain Nausea Constipation Loss of appetite Frequent infections Weight loss Excessive thirst Weakness and/or numbness in the arms and legs Confusion Abnormal bleeding Weak bones that may break easily Difficulty breathing The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple myeloma. 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 - Autosomal recessive inheritance - Multiple myeloma - Somatic mutation - 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: Multiple myeloma
Question: What causes Multiple myeloma ?
Answer: What causes multiple myeloma? Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. In people with multiple myeloma, excess plasma cells form tumors in the bone, causing bones to become weak and easily broken. The abnormal growth of plasma cells also makes it more difficult for the bone marrow to make healthy blood cells and platelets. The plasma cells produced in multiple myeloma produce abnormal antibodies that the immune system is unable to use. These abnormal antibodies build up in the body and cause a variety of problems. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS).
Source: GARD
Topic: Multiple myeloma
Question: How to diagnose Multiple myeloma ?
Answer: How is multiple myeloma diagnosed? A diagnosis of multiple myeloma may be suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include: Specialized blood tests including immunoglobulin studies, complete blood count with differential, and blood chemistry studies Urine tests such as immunoglobulin studies and a twenty-four-hour urine test Bone marrow aspiration and biopsy Imaging studies such as an X-ray of the bones (skeletal bone survey), MRI, CT scan, and/or PET scan The American Cancer Society offers more information regarding the diagnosis of multiple myeloma, including a summary of the many tests that may be recommended. Please click on the link to access this resource. Some affected people may have no suspicious signs or symptoms of multiple myeloma, especially in the early stages of the condition. In these cases, multiple myeloma is sometimes diagnosed by chance when a blood test or urine test is ordered to investigate another condition.
Source: GARD
Topic: Multiple myeloma
Question: What are the treatments for Multiple myeloma ?
Answer: How might multiple myeloma be treated? The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple myeloma: Chemotherapy Corticosteroid medications Targeted therapy Stem cell transplant Biological therapy Radiation therapy Surgery Watchful waiting The National Cancer Institute offers information regarding the management of multiple myeloma, including more specific information regarding the treatments outlined above. Please click on the link to access this resource.
Source: GARD
Topic: Focal dystonia
Question: What is (are) Focal dystonia ?
Answer: Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Additionally, FTSD has been reported in tailors, shoemakers, hair stylists, and people who frequently type or use a computer mouse. While the abnormal movements associated with focal dystonia are usually painless, they can cause high levels of anxiety. The causes of focal dystonia are unknown, although the disorder likely results from a combination of genetic and environmental factors. It is possible that the different forms of FTSD have different underlying causes. Researchers have found that at least some cases are related to malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Most cases of focal dystonia are sporadic, which means they occur in people with no history of the condition in their family. However, at least 10 percent of affected individuals have a family history which seems to follow an autosomal dominant pattern of inheritance.
Source: GARD
Topic: Focal dystonia
Question: What are the symptoms of Focal dystonia ?
Answer: What are the signs and symptoms of Focal dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal dystonia. 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 - Autosomal dominant inheritance - Writer's cramp - 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: Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
Question: What is (are) Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?
Answer: Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. Some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. It is caused by a mutation in the LYK5 gene.  Seizures are difficult to treat and there is ongoing research for more effective medication.
Source: GARD
Topic: Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
Question: What are the symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome ?
Answer: What are the signs and symptoms of Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyhydramnios, megalencephaly, and symptomatic epilepsy 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) Hyperplasia of midface 16/16 Hypertelorism 16/16 Large forehead 16/16 Long face 16/16 Muscular hypotonia 16/16 Polyhydramnios 16/16 Thick lower lip vermilion 16/16 Thick upper lip vermilion 16/16 Wide mouth 16/16 Wide nasal bridge 16/16 Macrocephaly 15/16 Premature birth 15/16 Atria septal defect 4/16 Diabetes insipidus 2/16 Nephrocalcinosis 2/16 Autosomal recessive 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: Long QT syndrome 1
Question: What is (are) Long QT syndrome 1 ?
Answer: Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.
Source: GARD
Topic: Long QT syndrome 1
Question: What are the symptoms of Long QT syndrome 1 ?
Answer: What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Autosomal dominant inheritance - Heterogeneous - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - 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: Orofaciodigital syndrome 11
Question: What are the symptoms of Orofaciodigital syndrome 11 ?
Answer: What are the signs and symptoms of Orofaciodigital syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 11. 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 odontoid process - Cleft palate - Intellectual disability - Kyphoscoliosis - Sporadic - 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: Exstrophy-epispadias complex
Question: What is (are) Exstrophy-epispadias complex ?
Answer: Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fetal tissue known as the cloacal membrane during the first trimester of pregnancy. This results in the abnormal development of the abdominal wall of the fetus. The exact timing of the rupture determines whether the child is born with isolated epispadias, classic bladder exstrophy or cloacal exstrophy. Therefore, depending on severity, EEC may involve the urinary system, musculoskeletal system, pelvis, pelvic floor, abdominal wall, genitalia, and sometimes the spine and anus. There is no known cause for this condition. Treatment may involve several surgeries to repair the abdominal wall and any associated malformation. The University of Michigan has a webpage about the development of the embryo and its parts, including the formation of the cloaca.
Source: GARD