sarnsrun/medquad huggingface dataset:
Topic: Lissencephaly X-linked
Question: What are the symptoms of Lissencephaly X-linked ?
Answer: What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. 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) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked 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: Hydrolethalus syndrome
Question: What are the symptoms of Hydrolethalus syndrome ?
Answer: What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus 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) Polyhydramnios 92% Severe hydrocephalus 92% Microphthalmia 86% Postaxial hand polydactyly 77% Cleft in skull base 76% Stillbirth 73% Abnormality of the pinna 70% Low-set ears 70% Abnormal lung lobation 66% Laryngeal hypoplasia 57% Tracheal stenosis 57% Cleft palate 55% Talipes equinovarus 52% Complete atrioventricular canal defect 48% Duplication of phalanx of hallux 47% Bifid uterus 33% Hypospadias 33% Upper limb undergrowth 24% Hydronephrosis 16% Abnormal cortical gyration - Abnormality of the vagina - Absent septum pellucidum - Accessory spleen - Adrenal gland dysgenesis - Agenesis of corpus callosum - Agenesis of the diaphragm - Arrhinencephaly - Autosomal recessive inheritance - Bifid nose - Broad neck - Dandy-Walker malformation - Heterotopia - Intrauterine growth retardation - Median cleft lip - Omphalocele - Preaxial hand polydactyly - Proximal tibial hypoplasia - Ventricular septal defect - 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: Pediatric ulcerative colitis
Question: What are the symptoms of Pediatric ulcerative colitis ?
Answer: What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. 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) Abdominal pain - Diarrhea - Growth delay - Heterogeneous - Intestinal obstruction - Multifactorial inheritance - Recurrent aphthous stomatitis - Ulcerative colitis - Weight loss - 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: Gilbert syndrome
Question: What is (are) Gilbert syndrome ?
Answer: Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. Many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. More males than females have been diagnosed with Gilbert syndrome. This condition is caused by mutations in the UGT1A1 gene and is inherited in an autosomal recessive pattern.
Source: GARD
Topic: Gilbert syndrome
Question: What are the symptoms of Gilbert syndrome ?
Answer: What are the signs and symptoms of Gilbert syndrome? While many people with Gilbert syndrome never experience any symptoms,  mild jaundice may occur if bilirubin levels get high enough. Other possible symptoms may include fatigue, weakness and abdominal pain.  Patients may have more side effects from certain drugs such as irinotecan. The Human Phenotype Ontology provides the following list of signs and symptoms for Gilbert 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 liver 90% Abdominal pain 50% Nausea and vomiting 50% Reduced bone mineral density 7.5% Autosomal recessive inheritance - Jaundice - Unconjugated hyperbilirubinemia - 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: Gilbert syndrome
Question: Is Gilbert syndrome inherited ?
Answer: How is Gilbert syndrome inherited? Gilbert syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Source: GARD
Topic: Gilbert syndrome
Question: How to diagnose Gilbert syndrome ?
Answer: Is genetic testing available for Gilbert syndrome? The Genetic Testing Registry provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can help you find a genetics professional in your community:   The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services. The American College of Medical Genetics has a searchable database of US genetics clinics. The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Source: GARD
Topic: Gilbert syndrome
Question: What are the treatments for Gilbert syndrome ?
Answer: How might Gilbert syndrome be treated? Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elevated bilirubin levels and reduce signs of jaundice. Phenobarbital administration usually alleviates signs of jaundice fairly quickly.
Source: GARD
Topic: Immunodeficiency with hyper IgM type 2
Question: What are the symptoms of Immunodeficiency with hyper IgM type 2 ?
Answer: What are the signs and symptoms of Immunodeficiency with hyper IgM type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 2. 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 - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Lymphadenopathy - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - 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: Annular atrophic lichen planus
Question: What is (are) Annular atrophic lichen planus ?
Answer: Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP - ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). Although these lesions can be found anywhere on the body, they most commonly affect the trunk and legs. The exact underlying cause of annular atrophic LP is unknown. Treatment is not always necessary as some cases of annular atrophic LP resolve on their own. Mild cases that are diagnosed early can often be managed with topical steroids, while more intensive therapies may be required for severe cases.
Source: GARD
Topic: 5q14.3 microdeletion syndrome
Question: What is (are) 5q14.3 microdeletion syndrome ?
Answer: 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.
Source: GARD
Topic: 5q14.3 microdeletion syndrome
Question: What are the symptoms of 5q14.3 microdeletion syndrome ?
Answer: What are the signs and symptoms of 5q14.3 microdeletion syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q14.3 microdeletion 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) Autism 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Aplasia/Hypoplasia of the corpus callosum 50% Short nose 50% Short philtrum 50% Stereotypic behavior 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Anteverted nares 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cerebral cortical atrophy 7.5% Deeply set eye 7.5% Open mouth 7.5% Optic atrophy 7.5% Strabismus 7.5% Thick eyebrow 7.5% Toe syndactyly 7.5% Abnormality of the periventricular white matter 5% Epileptic encephalopathy 5% Depressed nasal bridge - Downturned corners of mouth - Hypertelorism - Inability to walk - Intellectual disability, severe - Low-set ears - Motor delay - Poor eye contact - Short chin - 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: Bilateral perisylvian polymicrogyria
Question: What is (are) Bilateral perisylvian polymicrogyria ?
Answer: Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. In most cases, mild to severe intellectual disability is also present. While the exact cause of BPP is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder; however, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Bilateral perisylvian polymicrogyria
Question: What are the symptoms of Bilateral perisylvian polymicrogyria ?
Answer: What are the signs and symptoms of Bilateral perisylvian polymicrogyria? The signs and symptoms of bilateral perisylvian polymicrogyria (BPP) vary but may include: Partial paralysis of muscles on both sides of the face, tongue, jaws, and throat  Dysarthria Difficulty chewing Dysphagia Mild to severe intellectual disability Seizures and/or epilepsy Sudden, involuntary spasms of facial muscles Developmental delay The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral perisylvian polymicrogyria. 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) Atypical absence seizures - Cognitive impairment - Delayed speech and language development - Dyslexia - Generalized tonic-clonic seizures - Polymicrogyria - Pseudobulbar paralysis - 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: Bilateral perisylvian polymicrogyria
Question: What causes Bilateral perisylvian polymicrogyria ?
Answer: What causes bilateral perisylvian polymicrogyria? The exact underlying cause of bilateral perisylvian polymicrogyria (BPP) is unknown. The signs and symptoms associated with the condition are thought to be due to improper development of the outer surface of the brain (cerebral cortex) during embryonic growth. The cerebral cortex, which is responsible for conscious movement and thought, normally consists of several deep folds (gyri) and grooves (sulci). However, in people affected by BPP, the cerebral cortex has an abnormally increased number of gyri that are unusually small. Scientists believe that these abnormalities occur when newly developed brain cells fail to migrate to their destined locations in the outer portion of the brain. Specific non-genetic causes of polymicrogyria have been recognized, including exposure to cytomegalovirus infection (CMV) during pregnancy. Polymicrogyria has also been associated with certain complications in twin pregnancies.
Source: GARD
Topic: Bilateral perisylvian polymicrogyria
Question: Is Bilateral perisylvian polymicrogyria inherited ?
Answer: Is bilateral perisylvian polymicrogyria inherited? In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected by BPP. These cases may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance.
Source: GARD
Topic: Bilateral perisylvian polymicrogyria
Question: How to diagnose Bilateral perisylvian polymicrogyria ?
Answer: Is genetic testing available for bilateral perisylvian polymicrogyria? Genetic testing is not available for bilateral perisylvian polymicrogyria because the underlying genetic cause is unknown. How is bilateral perisylvian polymicrogyria diagnosed? A diagnosis of bilateral perisylvian polymicrogyria (BPP) is typically based on a thorough physical examination, a detailed medical history and a complete neurological evaluation, which many include the following tests: Electroencephalography (EEG) Computed tomography (CT) scanning Magnetic resonance imaging (MRI)
Source: GARD
Topic: Bilateral perisylvian polymicrogyria
Question: What are the treatments for Bilateral perisylvian polymicrogyria ?
Answer: How might bilateral perisylvian polymicrogyria be treated? There is no cure for bilateral perisylvian polymicrogyria (BPP). Treatment is generally based on the signs and symptoms present in each person. For example, medications may be prescribed to treat seizures and/or epilepsy. People affected by BPP may also benefit from physical therapy, occupational therapy and/or speech therapy. Please speak with a healthcare provider for more specific information regarding personal medical management.
Source: GARD