Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Larynx, congenital partial atresia of ?
Answer: What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. 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 voice 90% Laryngomalacia 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Short stature 50% Autosomal dominant inheritance - Laryngeal obstruction - Laryngeal web - 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 Gonadal dysgenesis, XX type ?
Answer: What are the signs and symptoms of Gonadal dysgenesis, XX type? The Human Phenotype Ontology provides the following list of signs and symptoms for Gonadal dysgenesis, XX 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) Polycystic ovaries 90% Primary amenorrhea 90% Sensorineural hearing impairment 90% Cerebral cortical atrophy 50% Short stature 50% Aplasia/Hypoplasia of the cerebellum 7.5% Cognitive impairment 7.5% Decreased nerve conduction velocity 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Nystagmus 7.5% Oculomotor apraxia 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Ptosis 7.5% Scoliosis 7.5% Secondary amenorrhea 7.5% Areflexia 5% Cerebellar atrophy 5% Dysarthria 5% Hyporeflexia 5% Motor delay 5% Sensorimotor neuropathy 5% Spastic diplegia 5% Autosomal recessive inheritance - Gait ataxia - Gonadal dysgenesis - High palate - Increased circulating gonadotropin level - Limited extraocular movements - Osteoporosis - Pes cavus - Phenotypic variability - Talipes equinovarus - 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 Pulmonary edema of mountaineers ?
Answer: What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. 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 - Elevated pulmonary artery pressure - Pulmonary edema - 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 Synostoses, tarsal, carpal, and digital ?
Answer: What are the signs and symptoms of Synostoses, tarsal, carpal, and digital? The Human Phenotype Ontology provides the following list of signs and symptoms for Synostoses, tarsal, carpal, and digital. 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) Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Carpal synostosis - Metacarpophalangeal synostosis - Radial head subluxation - Short metacarpal - Tarsal synostosis - Underdeveloped nasal alae - 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: Is Hereditary fructose intolerance inherited ?
Answer: How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition.
Question: What are the treatments for Hereditary fructose intolerance ?
Answer: How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page includes information on what people with HFI can and cannot eat. http://www.bu.edu/aldolase/HFI/treatment/ Additional information on foods to avoid if you have HFI is available from the Mayo clinic. http://www.mayoclinic.com/health/fructose-intolerance/AN01574
Question: What is (are) Congenital anosmia ?
Answer: Congenital anosmia is a very rare condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome and congenital insensitivity to pain). Scientists suspect that isolated congenital anosmia occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Unfortunately, there is currently no known cure or treatment for congenital anosmia.
Question: What are the symptoms of Congenital anosmia ?
Answer: What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. 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) Anosmia - Autosomal 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.
Question: What causes Congenital anosmia ?
Answer: What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.
Question: Is Congenital anosmia inherited ?
Answer: Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance.
Question: How to diagnose Congenital anosmia ?
Answer: How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no recollection of ever being able to smell, the following tests may be ordered to support a diagnosis of congenital anosmia: A thorough physical examination and medical history to look for other conditions that may interfere with the sense of smell Smell tests, particularly those that determine the smallest amount of odor that someone can detect Brain Imaging (such as CT scan and MRI scan) as some people with congenital anosmia have malformations in the portion of the brian that processes smells Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain
Question: What are the treatments for Congenital anosmia ?
Answer: How might congenital anosmia be treated? Unfortunately, there is currently no known cure or treatment for congenital anosmia.
Question: What are the symptoms of Johnston Aarons Schelley syndrome ?
Answer: What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Large granular lymphocyte leukemia ?
Answer: Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.
Question: What is (are) Autosomal dominant partial epilepsy with auditory features ?
Answer: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses. Signs and symptoms of the condition generally begin in adolescence or early adulthood. ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene and is inherited in an autosomal dominant manner. The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).
Question: What are the symptoms of Marfanoid hypermobility syndrome ?
Answer: What are the signs and symptoms of Marfanoid hypermobility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Marfanoid hypermobility 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 skin - Anterior segment dysgenesis - Aortic regurgitation - Arachnodactyly - Dissecting aortic aneurysm - Ectopia lentis - Growth abnormality - High palate - Joint hypermobility - Mitral regurgitation - Pectus carinatum - Pectus excavatum - Scoliosis - 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) Sudden sensorineural hearing loss ?
Answer: Sudden sensorineural deafness is a condition that is characterized by rapid, unexplained hearing loss. More specifically, affected people experience a reduction in hearing of greater than 30 decibels, which may occur all at once or over several days. In most cases, only one ear is affected. People with sudden sensorineural deafness often become dizzy, have ringing in their ears (tinnitus), or both (40% of the cases). The condition has a variety of causes, including infection, inflammation, tumors, trauma, exposure to toxins and conditions that affect the inner ear such as Mnire's disease. About half of people with sudden sensorineural deafness will recover some or all of their hearing spontaneously and about 85% of those who receive treatment will recover some of their hearing.
Question: What is (are) Osteogenesis imperfecta type I ?
Answer: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
Question: What is (are) Guanidinoacetate methyltransferase deficiency ?
Answer: Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.
Question: What are the symptoms of Guanidinoacetate methyltransferase deficiency ?
Answer: What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase 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) Ataxia - Autosomal recessive inheritance - Delayed speech and language development - Hyperreflexia - Hypertonia - Infantile muscular hypotonia - Intellectual disability - Myoclonus - Progressive extrapyramidal movement disorder - Seizures - 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) Best vitelliform macular dystrophy ?
Answer: Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.