sarnsrun/medquadmini huggingface dataset:
Question:
What are the treatments for Axenfeld-Rieger syndrome type 1 ?

Answer:
Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. The American Association of Eye and Ear Centers of Excellence provides a list of member clinics and the Eye Research Network provides a list of eye research facilities that may be helpful as you search for clinics. Click on the links to view the lists. Please note that the lists are not exhaustive of all specialty and research eye clinics within the United States or abroad.
Question:
What are the symptoms of Odontomicronychial dysplasia ?

Answer:
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.
Question:
What is (are) Noonan syndrome 3 ?

Answer:
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.
Question:
What are the symptoms of Noonan syndrome 3 ?

Answer:
What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. 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) Anteverted nares - Atrial septal aneurysm - Autosomal dominant inheritance - Frontal bossing - Hypertelorism - Juvenile myelomonocytic leukemia - Low-set ears - Pulmonic stenosis - Sagittal craniosynostosis - Short nose - Short stature - Ventricular septal defect - Webbed neck - 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.
Question:
What are the treatments for Noonan syndrome 3 ?

Answer:
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Question:
What is (are) Pseudoxanthoma elasticum ?

Answer:
Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.  PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach.  A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin.  ABCC6 is the only gene known to be associated with this condition.  Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinations with their primary physician.
Question:
What are the symptoms of Pseudoxanthoma elasticum ?

Answer:
What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. 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 coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - 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.
Question:
How to diagnose Pseudoxanthoma elasticum ?

Answer:
What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene.  Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available.  Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.
Question:
What are the treatments for Pseudoxanthoma elasticum ?

Answer:
What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum.  Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders.  A team of doctors in other specialties - including dermatology, cardiology, plastic surgery, vascular surgery, genetics, and nutrition - may also help with the management this condition.  Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes.  Several therapies may be effective for slowing the reduction in vision in PXE.  Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.
Question:
What is (are) Potocki-Lupski syndrome ?

Answer:
Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of motor and verbal milestones. In addition, many individuals display some behaviors commonly associated with autism spectrum disorders. While most cases of Potocki-Lupski syndrome occur sporadically, in rare cases, it may be inherited. Treatment involves physical, occupational, and speech therapy.
Question:
What are the symptoms of Potocki-Lupski syndrome ?

Answer:
What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski 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 chromosome segregation 90% Abnormality of the pharynx 90% Apnea 90% Attention deficit hyperactivity disorder 90% Autism 90% Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Broad forehead 50% EEG abnormality 50% Hypermetropia 50% Scoliosis 50% Triangular face 50% Abnormality of dental morphology 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Dental malocclusion 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Short stature 7.5% Wide mouth 7.5% Hypothyroidism 5% Abnormal renal morphology - Abnormality of the cardiovascular system - Autosomal dominant inheritance - Delayed myelination - Dental crowding - Dysphasia - Echolalia - Expressive language delay - Failure to thrive - Feeding difficulties in infancy - Gastroesophageal reflux - Generalized hypotonia - High palate - Hyperactivity - Hypocholesterolemia - Hypoplasia of the corpus callosum - Intellectual disability, mild - Language impairment - Mandibular prognathia - Oral-pharyngeal dysphagia - Patent foramen ovale - Phenotypic variability - Poor eye contact - Prominent nasal tip - Receptive language delay - Seizures - Sleep apnea - Small for gestational age - Smooth philtrum - Sporadic - Stereotypic behavior - Trigonocephaly - 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.
Question:
What is (are) Trigeminal neuralgia ?

Answer:
Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of the face), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches.
Question:
What are the symptoms of Trigeminal neuralgia ?

Answer:
What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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 - Trigeminal neuralgia - 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.
Question:
What is (are) Anaplastic ganglioglioma ?

Answer:
Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The main treatment is removal of the entire tumor during surgery.  If the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy.  Unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition.
Question:
What are the symptoms of Papillary thyroid carcinoma ?

Answer:
What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid carcinoma. 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 - Papillary thyroid carcinoma - 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.
Question:
What are the symptoms of Oculocutaneous albinism type 3 ?

Answer:
What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 3. 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) Nystagmus 90% Ocular albinism 90% Freckling 50% Strabismus 50% Cutaneous photosensitivity 7.5% Albinism - Autosomal recessive inheritance - Partial albinism - Red hair - 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.
Question:
What is (are) Multicentric Castleman Disease ?

Answer:
Multicentric Castleman disease (MCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is "systemic" and affects multiple sets of lymph nodes and other tissues throughout the body (as opposed to unicentric Castleman disease which has more "localized" effects). The signs and symptoms of MCD are often nonspecific and blamed on other, more common conditions. They can vary but may include fever; weight loss; fatigue; night sweats; enlarged lymph nodes; nausea and vomiting; and an enlarged liver or spleen. The eact underlying cause is unknown. Treatment may involve immunotherapy, chemotherapy, corticosteroid medications and/or anti-viral drugs.
Question:
What are the symptoms of Multicentric Castleman Disease ?

Answer:
What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigue Shortness of breath Nausea and vomiting Enlarged liver or spleen Peripheral neuropathy Skin abnormalities such as rashes and/or pemphigus Less commonly (<10% of cases), people affected by MCD will have no signs or symptoms of the condition. Other conditions associated with MCD include amyloidosis, POEMS syndrome, autoimmune disease, hemolytic anemia, and immune thrombocytopenic purpura (ITP).
Question:
What causes Multicentric Castleman Disease ?

Answer:
What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of MCD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with MCD. HHV-8 is found in nearly all people who are HIV-positive and develop MCD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause MCD by making its own IL-6.
Question:
Is Multicentric Castleman Disease inherited ?

Answer:
Is multicentric Castleman disease inherited? Although the exact underlying cause of multicentric Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition.
Question:
How to diagnose Multicentric Castleman Disease ?

Answer:
How is multicentric Castleman disease diagnosed? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. However, if MCD is suspected, the following tests may be recommended to help establish the diagnosis and rule out other conditions that cause similar features: Blood tests can be ordered to evaluate the levels of Interleukin-6 (IL-6) and other substances in the body, which can be elevated in people with MCD. They can also be helpful in ruling out other autoimmune conditions and infections that are associated with similar signs and symptoms Imaging studies (such as a CT scan, PET scan, MRI scan, and/or ultrasound) can help identify enlarged lymph node(s) and other health problems A biopsy of affected tissue, often a lymph node, is usually recommended to confirm the diagnosis