Druvith/medqa huggingface dataset:
How to diagnose CREST syndrome ? 

How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions  such as polymyositis, lupus and rheumatoid arthritis.   A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies. Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either.  Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted.
What are the symptoms of Radio renal syndrome ? 

What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the elbow 90% Abnormality of the palate 90% Abnormality of the pleura 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Micromelia 90% Multicystic kidney dysplasia 90% Renal hypoplasia/aplasia 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Abnormality of chromosome stability - Absent radius - Absent thumb - Autosomal dominant inheritance - Ectopic kidney - External ear malformation - 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.
What are the symptoms of Deafness oligodontia syndrome ? 

What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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) Reduced number of teeth 90% Sensorineural hearing impairment 90% Vertigo 50% Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Diastema - Oligodontia - 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) Brittle diabetes ? 

Brittle diabetes is characterized by severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that disrupt quality of life, often requiring frequent or prolonged hospitalizations. These unpredictable episodes are due to an absolute insulin dependency, affecting type 1 diabetics almost exclusively. Brittle diabetes is most common in women in their twenties or thirties, but can occur at any age and in either gender. The condition may be caused by stress and hormonal inbalance, neglect of self-care (noncompliance), or underlying medical conditions such as malabsorption, delayed gastric emptying due to autonomic neuropathy, drug or alcohol use or abnormal insulin absorption or degradation. Treatment is difficult and dependent upon the underlying cause.
What are the symptoms of Brittle diabetes ? 

What are the symptoms of brittle diabetes? The main symptom of brittle diabetes is severe instability of blood glucose levels with frequent and unpredictable episodes of hypoglycemia and/or ketoacidosis that cause a disruption of daily activities. Three clinical presentations have been described: Predominant hyperglycemia with recurrent ketoacidosis, Predominant hypoglycemia, and Mixed hyper- and hypoglycemia. Patients with brittle diabetes have wide swings in their blood sugar levels and often experience differing blood sugar responses to the same dose and type of insulin. Complications such as neuropathy, nephropathy, and retinopathy are common. Most patients are females in their twenties of thirties, though any age or gender can be affected.
What causes Brittle diabetes ? 

What causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-care. Other cases can be traced to physiological causes, including malabsorption, delayed gastric emptying due to autonomic neuropathy (gastroparesis), celiac disease, impaired glucose counterregulation (which doesn't allow the patient's body to react as it should when blood glucose levels drop), hypothyroidism and adrenal insufficiency, drug or alcohol use, systemic insulin resistance, and abnormal insulin absorption or degradation.
What are the treatments for Brittle diabetes ? 

How might brittle diabetes be treated? The approach to management depends upon the underlying cause. General management strategies include diabetes education, frequent self-monitoring of blood glucose, the use of a continuous subcutaneous insulin pump in conjunction with a continuous glucose monitoring device, and, in rare cases, pancreas transplantation. Psychotherapy or working with a psychiatrist or psychologist is recommended for many people with brittle diabetes. Referral to a specialty center may be warranted in certain situations.
What are the symptoms of Nodular regenerative hyperplasia ? 

What are the signs and symptoms of Nodular regenerative hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Nodular regenerative hyperplasia. 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) Hepatic failure 90% Hypertension 90% 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) Intestinal pseudo-obstruction ? 

Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.
What is (are) Congenital bilateral absence of the vas deferens ? 

Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.
What are the symptoms of Congenital bilateral absence of the vas deferens ? 

What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. 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 - Azoospermia - Heterogeneous - 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 Congenital bilateral absence of the vas deferens ? 

What causes congenital bilateral absence of the vas deferens (CBAVD)? More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. In instances of CBAVD without a mutation in the CFTR gene, the cause of this condition is often unknown. Some cases are associated with other structural problems of the urinary tract.
Is Congenital bilateral absence of the vas deferens inherited ? 

How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased. The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members. We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.
How to diagnose Congenital bilateral absence of the vas deferens ? 

Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we have provided a list of online resources that can assist you in locating a genetics professional near you.
What are the symptoms of Olivopontocerebellar atrophy deafness ? 

What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. 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) Cerebral cortical atrophy 90% Hearing impairment 90% Hyperreflexia 90% Incoordination 90% Ventriculomegaly 90% Aplasia/Hypoplasia of the cerebellum 50% Nystagmus 50% Chorioretinal coloboma 7.5% EEG abnormality 7.5% Hypertonia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Seizures 7.5% Strabismus 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.
What are the symptoms of Odontomicronychial dysplasia ? 

What are the signs and symptoms of Odontomicronychial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontomicronychial dysplasia. 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 fingernails 90% Advanced eruption of teeth 90% Premature loss of primary teeth 90% Autosomal recessive inheritance - Premature eruption of permanent teeth - Short nail - Slow-growing nails - Thin nail - 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 Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ? 

What are the signs and symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, low-birth-weight type with unresponsiveness to growth hormone. 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) Hearing impairment - Hypoglycemia - Intellectual disability - Intrauterine growth retardation - Severe short stature - 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 Autosomal recessive nonsyndromic congenital nuclear cataract ? 

What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. 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 - Cataract - 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 Progressive supranuclear palsy atypical ? 

What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. 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 pyramidal signs - Adult onset - Dementia - Kyphoscoliosis - Morphological abnormality of the pyramidal tract - Ophthalmoparesis - Parkinsonism - Rigidity - Tremor - 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.