Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Hereditary diffuse leukoencephalopathy with spheroids ?
Answer: What are the signs and symptoms of Hereditary diffuse leukoencephalopathy with spheroids? HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of the brain, which are a sign of axon damage. This damage is thought to contribute to the symptoms see in this condition, including personality changes (including a loss of social inhibitions and depression which are among the earliest symptoms of HDLS), memory loss and loss of executive function (the ability to plan and implement actions and develop problem-solving strategies which impairs skills such as impulse control, self-monitoring, and focusing attention appropriately). Some people with HDLS have mild seizures early in the disease and may experience a severe decline in thinking and reasoning abilities (dementia) as the disease progresses. Over time, motor skills are affected, and people with HDLS may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family. Over time, almost all affected individuals become unable to walk, speak, and care for themselves. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary diffuse leukoencephalopathy with spheroids. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Apraxia - Autosomal dominant inheritance - Bradykinesia - CNS demyelination - Depression - Frontal lobe dementia - Gliosis - Hyperreflexia - Leukoencephalopathy - Memory impairment - Mutism - Neuronal loss in central nervous system - Postural instability - Rapidly progressive - Rigidity - Shuffling gait - Spasticity - 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 Hereditary diffuse leukoencephalopathy with spheroids ?
Answer: What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor triggers signaling pathways that control many important cellular processes, such as cell growth and division (proliferation) and maturation of the cell to take on defined functions (differentiation). Mutations in the CSF1R gene lead to a altered CSF-1 receptor protein which is unable to stimulate cell signaling pathways. Exactly how these gene mutations cause the signs and symptoms of HDLS is unknown.
Question:  Is Hereditary diffuse leukoencephalopathy with spheroids inherited ?
Answer: How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question:  What is (are) N-acetylglutamate synthetase deficiency ?
Answer: N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion.
Question:  What are the symptoms of N-acetylglutamate synthetase deficiency ?
Answer: What are the signs and symptoms of N-acetylglutamate synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for N-acetylglutamate synthetase deficiency. 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) Aggressive behavior - Autosomal recessive inheritance - Cognitive impairment - Coma - Confusion - Failure to thrive - Hyperammonemia - Lethargy - Respiratory distress - Seizures - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What are the symptoms of Progressive familial heart block type 1A ?
Answer: What are the signs and symptoms of Progressive familial heart block type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial heart block type 1A. 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) Arrhythmia 50% Autosomal dominant inheritance - Complete heart block with broad RS complexes - Dyspnea - Heterogeneous - Left anterior fascicular block - Left postterior fascicular block - Right bundle branch block - Sudden cardiac death - Sudden death - Syncope - 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 Spinocerebellar ataxia 4 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. 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) Areflexia - Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Distal sensory impairment - Dysarthria - Hyporeflexia - Impaired smooth pursuit - Limb dysmetria - Progressive cerebellar ataxia - Sensory neuropathy - 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 Spastic paraplegia 51 ?
Answer: What are the signs and symptoms of Spastic paraplegia 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 51. 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 - Babinski sign - Bulbous nose - Cerebellar atrophy - Cerebral cortical atrophy - Coarse facial features - Congenital onset - Decreased muscle mass - Drooling - Facial hypotonia - Flexion contracture - Hyperreflexia - Intellectual disability, severe - Long nose - Microcephaly - Narrow face - Narrow forehead - Neonatal hypotonia - Nystagmus - Pointed chin - Prominent antihelix - Seizures - Short philtrum - Short stature - Spastic paraplegia - Spastic tetraplegia - Talipes equinovarus - Ventriculomegaly - Wide mouth - Wide nasal bridge - 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 Miles-Carpenter x-linked mental retardation syndrome ?
Answer: What are the signs and symptoms of Miles-Carpenter x-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Strabismus 90% Abnormality of the genital system 50% Cognitive impairment 50% Decreased body weight 50% Facial asymmetry 50% Joint hypermobility 50% Microcornea 50% Talipes 50% Abnormality of the skin - Congenital contracture - Distal amyotrophy - Exotropia - Intellectual disability - Microcephaly - 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 Insulin-like growth factor I deficiency ?
Answer: What are the signs and symptoms of Insulin-like growth factor I deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulin-like growth factor I deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Clinodactyly - Congenital onset - Decreased body weight - Delayed skeletal maturation - Hyperactivity - Intellectual disability - Intrauterine growth retardation - Microcephaly - Motor delay - Osteopenia - Ptosis - Radial deviation of finger - Sensorineural hearing impairment - Short attention span - 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.
Question:  What are the symptoms of Sakati syndrome ?
Answer: What are the signs and symptoms of Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sakati 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 cortical bone morphology 90% Abnormality of the metaphyses 90% Hernia of the abdominal wall 90% Hyperextensible skin 90% Joint hypermobility 90% Macrotia 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Synophrys 90% Abnormality of the pinna - Autosomal dominant inheritance - Broad hallux - Broad thumb - Craniosynostosis - Dental crowding - Hypertelorism - Hypoplasia of the maxilla - Lower limb undergrowth - Low-set ears - Malar flattening - Mandibular prognathia - Oxycephaly - Preaxial hand polydactyly - Shallow orbits - Short neck - Small face - Syndactyly - 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 Glomus tympanicum tumor ?
Answer: What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. 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) Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Conductive hearing impairment - Diaphoresis (with pheochromocytoma) - Elevated circulating catecholamine level - Extraadrenal pheochromocytoma - Glomus jugular tumor - Glomus tympanicum paraganglioma - Headache (with pheochromocytoma) - Hoarse voice (caused by tumor impingement) - Hyperhidrosis - Hypertension associated with pheochromocytoma - Loss of voice - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Tachycardia - Tachycardia (with pheochromocytoma) - Vagal paraganglioma - Vocal cord paralysis (caused by tumor impingement) - 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) Nuclear Gene-Encoded Leigh Syndrome ?
Answer: Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present.
Question:  What are the symptoms of Growth hormone insensitivity with immunodeficiency ?
Answer: What are the signs and symptoms of Growth hormone insensitivity with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Growth hormone insensitivity with immunodeficiency. 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 facial shape 90% Abnormality of lipid metabolism 90% Insulin resistance 90% Microcephaly 90% Short stature 90% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Fine hair 50% Hypoglycemia 50% Hypoplasia of penis 50% Type II diabetes mellitus 50% Abnormality of immune system physiology 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the nail 7.5% Abnormality of the voice 7.5% Cognitive impairment 7.5% Diabetes insipidus 7.5% Hearing impairment 7.5% Truncal obesity 7.5% Growth hormone deficiency - Respiratory difficulties - 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.