Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Frontotemporal dementia ?
Answer: What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. 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) Amyotrophic lateral sclerosis - Apathy - Autosomal dominant inheritance - Disinhibition - Frontal lobe dementia - Frontotemporal dementia - Hyperorality - Inappropriate laughter - Inappropriate sexual behavior - Irritability - Language impairment - Neuronal loss in central nervous system - Parkinsonism - Personality changes - Polyphagia - Primitive reflexes (palmomental, snout, glabellar) - 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 Trichothiodystrophy photosensitive ?
Answer: What are the signs and symptoms of Trichothiodystrophy photosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy photosensitive. 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 thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - 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) Pseudohypoparathyroidism ?
Answer: Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2
Question: What is (are) Costello syndrome ?
Answer: Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Osteopetrosis autosomal recessive 5 ?
Answer: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Question: What are the symptoms of Osteopetrosis autosomal recessive 5 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 5. 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 - Decreased osteoclast count - Hydrocephalus - Osteopetrosis - Stillbirth - 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 Loeys-Dietz syndrome type 4 ?
Answer: What are the signs and symptoms of Loeys-Dietz syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 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) Bicuspid aortic valve 5% Emphysema 5% Hypertelorism 5% Pneumothorax 5% Spondylolisthesis 5% Talipes equinovarus 5% Abnormality of the sternum - Aortic dissection - Arachnodactyly - Arterial tortuosity - Autosomal dominant inheritance - Bruising susceptibility - Dural ectasia - High palate - Inguinal hernia - Joint hyperflexibility - Mitral valve prolapse - Pes planus - Retrognathia - Scoliosis - Tall 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 is (are) Fine-Lubinsky syndrome ?
Answer: Fine-Lubinsky syndrome (FLS) is a very rare syndrome that affects various parts of the body. Signs and symptoms can vary and may include brachycephaly or plagiocephaly; structural brain abnormalities; abnormal EEG; intellectual disability; deafness; eye conditions (cataracts or glaucoma); distinctive facial features; and body asymmetry. The underlying cause of FLS remains unknown. Almost all cases have been sporadic (occurring in people with no family history of FLS) with the exception of 2 affected siblings, suggesting it was inherited in an autosomal recessive manner.
Question: What causes Fine-Lubinsky syndrome ?
Answer: What causes Fine-Lubinsky syndrome? The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.
Question: Is Fine-Lubinsky syndrome inherited ?
Answer: How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.
Question: How to diagnose Fine-Lubinsky syndrome ?
Answer: How is Fine-Lubinsky syndrome diagnosed? In 2009, Corona-Rivera et. al reviewed the signs and symptoms reported in people diagnosed with Fine-Lubinsky syndrome (FLS). They identified key signs for diagnosis as: non-synostotic (without synostosis) brachycephaly (short or broad head) or plagiocephaly (flattening of the head); structural brain anomalies; abnormal EEG; intellectual disability; deafness; ocular (eye) abnormalities including cataracts or glaucoma; distinctive facial features involving high/wide forehead, shallow orbits, flat/round face, low-set posteriorly rotated ears, and microstomia (small mouth); and body asymmetry.
Question: What causes Lynch syndrome ?
Answer: What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.
Question: Is Lynch syndrome inherited ?
Answer: Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.
Question: How to diagnose Lynch syndrome ?
Answer: How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here.
Question: What are the symptoms of Multicentric reticulohistiocytosis ?
Answer: What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in number from head to toe. The arthritis is most often symmetrical and polyarticular (affecting many joints). Unlike adult rheumatoid arthritis, it does not spare the joints closest to the fingertips. It can be severely destructive, and in one third of cases it progresses to arthritis multilans. Further history reveals that approximately one third of patients complain of symptoms such as fever, weight loss, and malaise; less often, pericarditis and myositis are present. The clinical presentation of multicentric reticulohistiocytosis is insidious in onset and begins with arthritic complaints in approximately two thirds of patients. It is potentially one of the most rapidly destructive forms of arthritis. Joint involvement remits and relapses, gradually worsening into a debilitating and permanent arthritis multilans. The severity of the damage has been reported to be related to the age of onset; therefore, the earlier one has symptoms, the more severe the symptoms tend to be. Like the associated arthritis, skin lesions tend to wax and wane until the disease spontaneously resolves, but may leave permanent disfigurement. The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric reticulohistiocytosis. 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 oral cavity 90% Abnormality of the skin 90% Arthritis 90% Abnormality of temperature regulation 7.5% Decreased body weight 7.5% Muscle weakness 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 treatments for Multicentric reticulohistiocytosis ?
Answer: How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some.
Question: What is (are) ADNP syndrome ?
Answer: ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.[1] ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]
Question: What are the symptoms of ADNP syndrome ?
Answer: What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP 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 cardiovascular system morphology 5% Seizures 5% Autistic behavior - Cleft eyelid - Feeding difficulties - Hyperactivity - Hypermetropia - Intellectual disability - Joint laxity - Language impairment - Muscular hypotonia - Obesity - Obsessive-compulsive behavior - Prominent forehead - Ptosis - Recurrent infections - Short nose - Short stature - Small hand - Smooth philtrum - Stereotypic behavior - Strabismus - Visual impairment - 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 is (are) Colpocephaly ?
Answer: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.
Question: What are the symptoms of Colpocephaly ?
Answer: What are the symptoms of colpocephaly? Colpocephaly is characterized by a small head circumference and in many cases, intellectual disability. Other signs and symptoms may include movement abnormalities, muscle spasms, and seizures. Poor vision, speech and language difficulties, deafness, and chorioretinitis have been described in individual cases. Cases of people with colpocephaly and normal neurological and motor development have also been described.
Question: What causes Colpocephaly ?
Answer: What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.
Question: What are the treatments for Colpocephaly ?
Answer: How might colpocephaly be treated? There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.
Question: What causes Hemophagocytic lymphohistiocytosis ?
Answer: What causes hemophagocytic lymphohistiocytosis? There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH). There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene that helps regulate the immune system. The genetic cause of familial HLH, type 1 is currently unknown. Familial HLH, type 2 is caused by mutations in the PRF1 gene. Familial HLH, type 3 is caused by mutations in the UNC13D gene. Familial HLH, type 4 is caused by mutations in the STX11 gene. Familial HLH, type 5 is caused by mutations in the STXBP2 gene. All of the genes that cause HLH serve as the instructions for proteins that help destroy or turn off activated immune cells that are no longer needed. Changes in these genes lead to an overproduction of immune cells which results in an excessive immune response and the many signs and symptoms of familial HLH. The acquired causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.