Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the symptoms of Neuroferritinopathy ?
Answer: What are the signs and symptoms of Neuroferritinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuroferritinopathy. 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) Chorea 90% Hypertonia 90% Incoordination 90% Abnormality of eye movement 50% Feeding difficulties in infancy 50% Gait disturbance 50% Constipation 7.5% Developmental regression 7.5% Hypotension 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Anarthria - Ataxia - Autosomal dominant inheritance - Babinski sign - Blepharospasm - Bradykinesia - Cavitation of the basal ganglia - Choreoathetosis - Decreased serum ferritin - Dementia - Disinhibition - Dysarthria - Dysphagia - Emotional lability - Hyperreflexia - Laryngeal dystonia - Mutism - Neurodegeneration - Parkinsonism - Phenotypic variability - Progressive - Rigidity - Spasticity - Writer's cramp - 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) Satoyoshi syndrome ?
Answer: Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.
Question: What is (are) Leukoplakia ?
Answer: Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irritation, but the cause is not always known. Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer. Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases.
Question: What are the symptoms of Leukoplakia ?
Answer: What are the early signs of cancer in vulvar leukoplakia? Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. Therefore, a biopsy is typically recommended in all cases to determine which lesions are precancerous. Small lesions may be biopsied and just followed periodically if it is shown to remain benign. However, those that show precancerous or cancerous features should be removed.
Question: What are the treatments for Leukoplakia ?
Answer: How might leukoplakia be treated? For most people, removing the source of irritation is important and often causes the lesion to disappear. For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition. Dental causes such as rough teeth or fillings should be treated as soon as possible. When this is not effective or if the lesions show early signs of cancer, treatment may include removing the patches. The lesion is usually removed in the health care provider's office using local anesthesia. Leukoplakia on the vulva is treated in the same way as oral lesions. Recurrences are common, so follow-up visits with a physician are recommended.
Question: What is (are) Spondylocostal dysostosis 4 ?
Answer: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 4 is caused by mutations in the HES7 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Question: What are the symptoms of Reticular dysgenesis ?
Answer: What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. 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 mitochondrial metabolism 90% Abnormality of neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing impairment 90% Leukopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sepsis 90% Severe combined immunodeficiency 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight loss 50% Dehydration 7.5% Skin rash 7.5% Skin ulcer 7.5% Abnormality of the thymus - Absent cellular immunity - Autosomal recessive inheritance - Congenital agranulocytosis - Lymphopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency ?
Answer: What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X 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) Bruising susceptibility 90% Hyperextensible skin 90% Joint hypermobility 90% Arthralgia 50% Joint dislocation 50% Muscle weakness 50% Muscular hypotonia 50% Myalgia 50% Peripheral neuropathy 50% Skeletal muscle atrophy 50% Thin skin 50% Abnormality of the mitral valve 7.5% Arrhythmia 7.5% Atherosclerosis 7.5% Cerebral ischemia 7.5% Gastrointestinal hemorrhage 7.5% Hypercortisolism 7.5% Spina bifida occulta 7.5% Increased connective tissue 5% Muscle fiber splitting 5% Proximal amyotrophy 5% Proximal muscle weakness 5% Ambiguous genitalia, female - Autosomal recessive inheritance - Bicornuate uterus - Hiatus hernia - Mitral valve prolapse - Soft skin - Vesicoureteral reflux - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Congenital varicella syndrome ?
Answer: Congenital varicella syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth due to the mother's infection with chickenpox (maternal varicella zoster) early during pregnancy (i.e., up to 20 weeks gestation). Affected newborns may have a low birth weight and characteristic abnormalities of the skin, brain, eyes, the arms, legs, hands, and/or feet, and/or, in rare cases, other areas of the body. The range and severity of associated symptoms and physical findings may vary greatly from case to case depending upon when maternal varicella zoster infection occurred during fetal development.
Question: What are the symptoms of Congenital varicella syndrome ?
Answer: What are the signs and symptoms of Congenital varicella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital varicella 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) Atypical scarring of skin 90% Intrauterine growth retardation 90% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cerebral cortical atrophy 50% Cognitive impairment 50% Microcephaly 50% Micromelia 50% 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 28 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 28? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 28. 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) Dystonia 5% Parkinsonism 5% Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked nystagmus - Limb ataxia - Lower limb hyperreflexia - Ophthalmoparesis - Ptosis - Slow progression - Slow saccadic eye movements - 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 is (are) Good syndrome ?
Answer: Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis. While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved. Treatment includes removal of the thymic tumor and immunoglobulin replacement.
Question: What are the symptoms of Chondrocalcinosis 1 ?
Answer: What are the signs and symptoms of Chondrocalcinosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrocalcinosis 1. 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 - Chondrocalcinosis - Osteoarthritis - 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 Fallot complex with severe mental and growth retardation ?
Answer: What are the signs and symptoms of Fallot complex with severe mental and growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Fallot complex with severe mental and growth retardation. 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) Cognitive impairment 90% Macrotia 90% Short stature 90% Tetralogy of Fallot 90% Wide nasal bridge 90% Abnormality of the palate 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Microcephaly 50% Toe syndactyly 50% Hypertonia 7.5% Ptosis 7.5% Strabismus 7.5% Abnormality of the face - Autosomal recessive inheritance - Double outlet right ventricle - Failure to thrive - Intellectual disability - Pulmonic stenosis - Ventricular septal defect - 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) Desmoplastic infantile ganglioglioma ?
Answer: Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. The standard treatment for DIGs is surgical resection (surgical procedure in which the portion of the brain with the tumor is removed).
Question: What are the symptoms of Desmoplastic infantile ganglioglioma ?
Answer: What signs and symptoms are associated with desmoplastic infantile gangliomas? Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting.
Question: How to diagnose Desmoplastic infantile ganglioglioma ?
Answer: How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor.
Question: What are the treatments for Desmoplastic infantile ganglioglioma ?
Answer: What treatment is available for desmoplastic infantile gangliomas? Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not documented for all cases reported in the medical literature. Adjuvant therapy is generally not performed when a gross total resection can be performed. When total resection is not possible, some of suggested chemotherapy, as the effects of radiation on extremely young children may be harmful.
Question: What is (are) Camurati-Engelmann disease ?
Answer: Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.
Question: What causes Camurati-Engelmann disease ?
Answer: What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
Question: Is Camurati-Engelmann disease inherited ?
Answer: How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.
Question: How to diagnose Camurati-Engelmann disease ?
Answer: How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the Genetic Resources section to learn how you can locate a genetics professional in your community.