Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of VACTERL association ?
Answer: What are the signs and symptoms of VACTERL association? The Human Phenotype Ontology provides the following list of signs and symptoms for VACTERL association. 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) Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Premature birth 90% Tracheal stenosis 90% Tracheoesophageal fistula 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of the cardiac septa 50% Aplasia/Hypoplasia of the radius 50% Congenital diaphragmatic hernia 50% Laryngomalacia 50% Renal hypoplasia/aplasia 50% Vertebral segmentation defect 50% Abnormality of female internal genitalia 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the gallbladder 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the pancreas 7.5% Abnormality of the ribs 7.5% Abnormality of the sacrum 7.5% Anencephaly 7.5% Bifid scrotum 7.5% Cavernous hemangioma 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Encephalocele 7.5% Finger syndactyly 7.5% Hypoplasia of penis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Multicystic kidney dysplasia 7.5% Non-midline cleft lip 7.5% Omphalocele 7.5% Preaxial hand polydactyly 7.5% Single umbilical artery 7.5% Abnormality of the nasopharynx - Abnormality of the sternum - Absent radius - Anal atresia - Choanal atresia - Ectopic kidney - Esophageal atresia - Failure to thrive - Hydronephrosis - Hypoplasia of the radius - Hypospadias - Large fontanelles - Laryngeal stenosis - Occipital encephalocele - Patent ductus arteriosus - Patent urachus - Postnatal growth retardation - Radioulnar synostosis - Renal agenesis - Renal dysplasia - Scoliosis - Short thumb - Spina bifida - Sporadic - Syndactyly - Tethered cord - Tetralogy of Fallot - Transposition of the great arteries - Triphalangeal thumb - Ureteropelvic junction obstruction - Ventricular septal defect - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What causes VACTERL association ?
Answer: Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA. When a condition is defined as being an "association", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature. Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a syndrome or chromosome abnormality; if this is the case, the recurrence risk for a family member would be the risk that is associated with that specific diagnosis. Genetic disorders which have features in common with VACTERL association include Feingold syndrome, CHARGE syndrome, Fanconi anemia, Townes-Brocks syndrome, and Pallister-Hall syndrome. It has also been recognized that there is a two to threefold increase in the incidence of multiple congenital malformations (with features that have overlapped with those of VACTERL association) in children of diabetic mothers.
Question:  How to diagnose VACTERL association ?
Answer: Is genetic testing available for VACTERL association? Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition. GeneTests lists the names of laboratories that are performing genetic testing for VACTERL association. Although no clinical laboratories are listed for this condition, there are some research laboratories performing genetic testing; to see a list of these laboratories, 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. How is VACTERL association diagnosed? Prenatal diagnosis of VACTERL association can be challenging because certain component features of the condition can be difficult to detect prior to birth. Therefore, the diagnosis of VACTERL association is typically based on features that are seen when a baby is born or in the first few days of life. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL): vertebral defects, commonly accompanied by rib anomalies; imperforate anus or anal atresia; cardiac (heart) defects; tracheo-esophageal fistula with or without esophageal atresia; renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities. Additional types of abnormalities have also been reported in affected individuals and may be used as clues in considering a diagnosis of other conditions with overlapping features. Depending on the features present, some other conditions that may be considered when diagnosing a child who has features of VACTERL association (differential diagnosis) may include Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral spectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus.
Question:  What is (are) Limbic encephalitis ?
Answer: Limbic encephalitis is a condition marked by the inflammation of the limbic system and other parts of the brain. The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however, symptoms may also include confusion, psychiatric symptoms, and seizures. The symptoms typically develop over a few weeks or months, but they may evolve over a few days. Delayed diagnosis is common, but improvements are being made to assist in early detection. Early diagnosis may improve the outcome of limbic encephalitis.
Question:  What are the symptoms of Limbic encephalitis ?
Answer: What symptoms are associated with limbic encephalitis? Although the symptoms of the condition may vary from person to person, the cardinal sign of limbic encephalitis is severe impairment of short-term memory, with most patients having difficulties in recall.  A large variety of symptoms may be associated with limbic encephalitis such as anterograde amnesia (the inability to store new memories after the onset of the condition), anxiety, depression, irritability, personality change, acute confusional state, hallucinations and seizures.  Other possible symptoms may include obsessiveness, hyperthermia (increase in body temperature), weight change, hypersomnia, endocrine dysfunction, aphasia, and apraxia.  The symptoms associated with limbic encephalitis can develop over a few days, weeks, or months.  It is important to note the neurological symptoms generally precede diagnosis of the malignancy in 60%-75% of patients that have paraneoplastic limbic encephalitis.
Question:  What causes Limbic encephalitis ?
Answer: What causes limbic encephalitis? In many patients limbic encephalitis is a paraneoplastic syndrome, which is most commonly associated with small cell lung cancer (SCLC), breast cancer, testicular tumors, teratomas, Hodgkin's lymphoma, and thymomas.  Out of the various cancers linked to limbic encephalitis, the typically associated tumors are SCLC, which are present in about 40% of patients that have the paraneoplastic form of limbic encephalitis.  Seminoma are present in 25% of patients.  At a lower rate, nearly any other tumor may be associated.  Limbic encephalitis can also occur in the absence of cancer such as in the case of an viral infection and systemic autoimmune disorders.  The underlying cause of limbic encephalitis is probably an autoimmune reaction which is brought about by cancer, tumors, infections, or autoimmune disorders.
Question:  What are the treatments for Limbic encephalitis ?
Answer: What treatment is available for limbic encephalitis? Treatment will vary depending on whether the patient has a paraneoplastic form of limbic encephalitis or not.  If the patient has a viral infectious form of the condition, an antiviral drug may be prescribed.  When a tumor is found in association with a possible paraneoplastic disorder, removal of the tumor and immunotherapy may be offered.
Question:  What is (are) GM1 gangliosidosis type 2 ?
Answer: GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
Question:  What are the symptoms of GM1 gangliosidosis type 2 ?
Answer: What are the signs and symptoms of GM1 gangliosidosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis 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) Abnormality of the face - Abnormality of the liver - Abnormality of the spleen - Ataxia - Autosomal recessive inheritance - Cerebral atrophy - Coxa valga - Gait disturbance - Generalized myoclonic seizures - Optic atrophy - Platyspondyly - Progressive psychomotor deterioration - Sea-blue histiocytosis - Spastic tetraplegia - Ventriculomegaly - 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) Familial hemiplegic migraine ?
Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Question:  What are the symptoms of Familial hemiplegic migraine ?
Answer: What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 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.
Question:  What are the symptoms of Deafness-infertility syndrome ?
Answer: What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility 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 spermatogenesis - Autosomal recessive inheritance - Bilateral sensorineural hearing impairment - Male infertility - Reduced sperm motility - 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 Ehlers-Danlos syndrome, periodontitis type ?
Answer: What are the signs and symptoms of Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type . 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 skin pigmentation 90% Atypical scarring of skin 90% Gingival overgrowth 90% Short stature 90% Hyperextensible skin 50% Hyperkeratosis 50% Joint hypermobility 50% Periodontitis 50% Premature loss of primary teeth 7.5% Autosomal dominant inheritance - Blue sclerae - Bruising susceptibility - Joint laxity - Palmoplantar cutis laxa - Poor wound healing - Premature loss of teeth - Thin skin - 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 Ichthyosis and male hypogonadism ?
Answer: What are the signs and symptoms of Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. 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 - Anosmia - Congenital ichthyosiform erythroderma - Gonadotropin deficiency - Hyperchromic macrocytic anemia - Hypogonadotrophic hypogonadism - Intellectual disability - Male hypogonadism - Rod-cone dystrophy - Seizures - 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.
Question:  What are the symptoms of Leukoencephalopathy - dystonia - motor neuropathy ?
Answer: What are the signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy . 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 motor neuron morphology - Abnormality of saccadic eye movements - Abnormality of thalamus morphology - Azoospermia - Head tremor - Hypergonadotropic hypogonadism - Hyposmia - Intention tremor - Leukoencephalopathy - Peripheral neuropathy - Torticollis - 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 Osteodysplasty precocious of Danks Mayne and Kozlowski ?
Answer: What are the signs and symptoms of Osteodysplasty precocious of Danks Mayne and Kozlowski? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasty precocious of Danks Mayne and Kozlowski. 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 long bone morphology - Abnormality of pelvic girdle bone morphology - Autosomal recessive inheritance - Growth delay - Recurrent respiratory infections - Short finger - Short toe - 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.