Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Achondrogenesis type 2 ?
Answer: What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis 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 bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Polyhydramnios 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormality of the foot - Absent vertebral body mineralization - Autosomal dominant inheritance - Barrel-shaped chest - Broad long bones - Cleft palate - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Horizontal ribs - Hypoplastic iliac wing - Short long bone - Short ribs - Short tubular bones (hand) - 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 is (are) Pearson syndrome ?
Answer: Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.
Question: What are the symptoms of Pearson syndrome ?
Answer: What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson 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 skin pigmentation 90% Abnormality of the heme biosynthetic pathway 90% Anemia 90% Delayed skeletal maturation 90% Exocrine pancreatic insufficiency 90% Intrauterine growth retardation 90% Malabsorption 90% Muscular hypotonia 90% Reduced bone mineral density 90% Type I diabetes mellitus 90% 3-Methylglutaric aciduria - Complex organic aciduria - Failure to thrive - Lactic acidosis - Metabolic acidosis - Mitochondrial inheritance - Pancreatic fibrosis - Refractory sideroblastic anemia - Renal Fanconi syndrome - 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 causes Multiple pterygium syndrome Escobar type ?
Answer: What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion.
Question: How to diagnose Multiple pterygium syndrome Escobar type ?
Answer: How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis. Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.
Question: What are the treatments for Multiple pterygium syndrome Escobar type ?
Answer: How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture releases have been performed with variable outcome. Physical therapy is important to help minimize contractures. When ptosis (droopy eyelids) is present, the patient should be referred to ophthalmology. Patients should also be referred to audiology due to the risk of conductive hearing loss.
Question: What is (are) Tetrasomy X ?
Answer: Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.
Question: What are the symptoms of Tetrasomy X ?
Answer: What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. 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 chromosome segregation 90% Abnormality of the teeth 50% Cognitive impairment 50% Epicanthus 50% Hypertelorism 50% Joint hypermobility 50% Muscular hypotonia 50% Radioulnar synostosis 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Secondary amenorrhea 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 causes Tetrasomy X ?
Answer: What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells.
Question: What are the symptoms of Pancreatic cancer, childhood ?
Answer: What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. 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) Neoplasm of the pancreas - 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 Madelung disease ?
Answer: What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
Question: Is Madelung disease inherited ?
Answer: Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
Question: How to diagnose Madelung disease ?
Answer: How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.
Question: What are the treatments for Madelung disease ?
Answer: How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.
Question: What are the symptoms of Radio-ulnar synostosis type 2 ?
Answer: What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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) BRCA1 hereditary breast and ovarian cancer syndrome ?
Answer: BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
Question: What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ?
Answer: What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer 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) Autosomal dominant inheritance - Breast carcinoma - Multifactorial 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 is (are) Logopenic progressive aphasia ?
Answer: Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well articulated and grammatically correct with good single-word comprehension. But over time, affected individuals may have trouble understanding long or complex verbal information, due to problems holding onto lengthy information that they hear. Language difficulties associated with LPA are due to shrinking, or atrophy, in the left posterior temporal cortex and inferior parietal lobule. Click here to view an image of the lobes of the brain.
Question: What are the treatments for Logopenic progressive aphasia ?
Answer: How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf
Question: What are the symptoms of Baraitser-Winter syndrome ?
Answer: What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter 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) Duplication of phalanx of hallux 5% Highly arched eyebrow 5% Microphthalmia 5% Oral cleft 5% Retrognathia 5% Ventriculomegaly 5% Abnormality of metabolism/homeostasis - Agenesis of corpus callosum - Anteverted nares - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicuspid aortic valve - Chorioretinal coloboma - Cryptorchidism - Hypertelorism - Intellectual disability - Iris coloboma - Lissencephaly - Long palpebral fissure - Long philtrum - Low posterior hairline - Low-set ears - Microcephaly - Micropenis - Muscular hypotonia - Overfolded helix - Pachygyria - Patent ductus arteriosus - Pointed chin - Postnatal growth retardation - Prominent epicanthal folds - Ptosis - Seizures - Sensorineural hearing impairment - Short neck - Short nose - Short stature - Trigonocephaly - 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.