Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for Protein C deficiency ?
Answer: How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.
Question: What are the symptoms of 1q44 microdeletion syndrome ?
Answer: What are the signs and symptoms of 1q44 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q44 microdeletion 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) Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the philtrum 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertelorism 50% Microcephaly 50% Short stature 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Abnormality of the palate 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% High forehead 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Narrow forehead 7.5% Optic atrophy 7.5% Preauricular skin tag 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Synophrys 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 is (are) Leukodystrophy ?
Answer: A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes (mutations) in the genes involved in making myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.
Question: What is (are) Snyder-Robinson syndrome ?
Answer: Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.
Question: What are the symptoms of Snyder-Robinson syndrome ?
Answer: What are the signs and symptoms of Snyder-Robinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Snyder-Robinson 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 pinna - Bifid uvula - Broad-based gait - Cleft palate - Cryptorchidism - Decreased muscle mass - Dental crowding - Dysarthria - Facial asymmetry - High, narrow palate - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability - Kyphoscoliosis - Long fingers - Long hallux - Long palm - Mandibular prognathia - Muscular hypotonia - Narrow palm - Nasal speech - Osteoporosis - Pectus carinatum - Pectus excavatum - Phenotypic variability - Recurrent fractures - Seizures - Severe Myopia - Short philtrum - Short stature - Talipes equinovarus - Tall stature - Thick lower lip vermilion - Webbed neck - Wide intermamillary distance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Tibia absent polydactyly arachnoid cyst ?
Answer: What are the signs and symptoms of Tibia absent polydactyly arachnoid cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Tibia absent polydactyly arachnoid cyst. 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) Aplasia/Hypoplasia of the cerebellum 90% Abnormality of the fibula 50% Abnormality of the ulna 50% Congenital diaphragmatic hernia 50% Intestinal malrotation 50% Non-midline cleft lip 50% Postaxial foot polydactyly 50% Postaxial hand polydactyly 50% Preaxial foot polydactyly 50% Talipes 50% Toe syndactyly 50% Ventriculomegaly 50% Abnormality of the thorax - Aplasia/Hypoplasia of the tibia - Arachnoid cyst - Autosomal recessive inheritance - Choroid plexus cyst - Cleft upper lip - Posterior fossa cyst - Radial bowing - 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 is (are) Pars planitis ?
Answer: Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop. Pars planitis most often affects young men and is generally not associated with any other disease or symptoms (idiopathic); however, it can be associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Treatment typically includes corticosteroid drugs, immunosuppressive medications, and/or surgery.
Question: What are the symptoms of Pars planitis ?
Answer: What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are bilateral (affecting both eyes), although one eye is typically more affected than the other. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop.
Question: What causes Pars planitis ?
Answer: What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Although most cases occur sporadically in people with no family history of the condition, pars planitis can rarely affect more than one family member. In these cases, there may be a genetic component; however, a disease-causing gene and specific inheritance pattern have not been identified.
Question: How to diagnose Pars planitis ?
Answer: How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a "hallmark" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.
Question: What are the treatments for Pars planitis ?
Answer: How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are not successful, other medications may be given to reduce the body's immune response (medications called immunosuppressants, such as methotrexate). If medications are not effective, surgery may be considered. Cryotherapy has been performed in affected people to remove eye tissue that has inflammation. Although this surgery has been shown to be effective in restoring clarity of vision, there are concerns that it may cause damage to other parts of the eye. Another surgery, known as vitrectomy, can be done to remove cloudy fluid (vitreous humor) from the eye.
Question: What is (are) Duane syndrome type 3 ?
Answer: Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms. In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.
Question: What are the symptoms of Duane syndrome type 3 ?
Answer: What are the signs and symptoms of Duane syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome type 3. 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) Ophthalmoparesis 90% Strabismus 90% Anteverted nares 50% Blepharophimosis 50% Deeply set eye 50% Abnormal form of the vertebral bodies 7.5% Abnormal localization of kidney 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Cognitive impairment 7.5% External ear malformation 7.5% Hearing impairment 7.5% Heterochromia iridis 7.5% Microcephaly 7.5% Nystagmus 7.5% Optic atrophy 7.5% Ptosis 7.5% Seizures 7.5% Short neck 7.5% Talipes 7.5% Visual impairment 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Congenital strabismus - Duane anomaly - Impaired convergence - Impaired ocular abduction - Impaired ocular adduction - Palpebral fissure narrowing on adduction - 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) Spinocerebellar ataxia 13 ?
Answer: Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (often with intellectual disability and occasional seizures) to adult-onset progressive ataxia. Life expectancy is normal. SCA13 is caused by mutations in the KCNC3 gene and is inherited in an autosomal dominant manner. Treatment may include anti-seizure medications; assistive devices (such as a canes and walkers); and/or speech therapy and communication devices.
Question: What is (are) Nocardiosis ?
Answer: Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), brain (headaches and seizures), and skin (skin infections, ulcers, and abscesses). The nocardia bacteria are found in soil around the world. People contract this disease by either inhaling contaminated dust or if soil containing nocardia bacteria get into an open wound. While anyone can contract this condition, people with a weakened immune system or chronic lung disease are at greatest risk of this condition.
Question: What are the symptoms of Peptidic growth factors deficiency ?
Answer: What are the signs and symptoms of Peptidic growth factors deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Peptidic growth factors deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Convex nasal ridge 90% Flexion contracture 90% Lack of skin elasticity 90% Limitation of joint mobility 90% Lipoatrophy 90% Narrow mouth 90% Palmoplantar keratoderma 90% Pectus excavatum 90% Pes planus 90% Weight loss 90% Abnormal hair quantity 50% Abnormality of limb bone morphology 50% Abnormality of lipid metabolism 50% Atherosclerosis 50% Chondrocalcinosis 50% Premature graying of hair 50% Reduced bone mineral density 50% Type I diabetes mellitus 50% Autosomal recessive inheritance - Dermal atrophy - Insulin-resistant diabetes mellitus - Plantar hyperkeratosis - Reduced subcutaneous adipose tissue - Thin skin - 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) Hairy tongue ?
Answer: Hairy tongue is a condition in which the the central top portion of the tongue presents with an abnormal coloring. Although the abnormal coating is typically black in color, brown, yellow, and green discoloration has been described.
Question: What causes Hairy tongue ?
Answer: What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue.
Question: What are the treatments for Hairy tongue ?
Answer: What treatment is available for hairy tongue? Although hairy tongue normally resolves on its own, patients are encouraged to avoid the factors that have been shown to bring about hairy tongue. Treatment usually involves gentle cleaning of the tongue with a soft toothbrush. Medication is rarely prescribed for hairy tongue; however, in severe cases, antifungals, retinoids or mouthwashes may be used. If treatment fails, the affected portion of the tongue called the papillae (finger-like projections) may be clipped or removed using techniques such as carbon dioxide laser burning or electrodesiccation (a procedure in which an electrical current is used to seal of the affected area).
Question: What is (are) Osteopetrosis autosomal recessive 3 ?
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 is (are) Essential tremor ?
Answer: Essential tremor is the most common movement disorder. It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma. Most cases of essential tremor are hereditary. There are five forms of essential tremor that are based on different genetic causes. Several genes as well as lifestyle and environmental factors likely play a role in a person's risk of developing this complex condition. In mild cases, treatment may not be necessary. In cases where symptoms interfere with daily living, medications may help to relieve symptoms.
Question: What are the symptoms of Essential tremor ?
Answer: What are the signs and symptoms of Essential tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Essential tremor. 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 - Dysarthria - Hand tremor - Postural tremor - Progressive - 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 Essential tremor ?
Answer: What causes essential tremor? The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes, as well as environmental factors, are likely involved in an individual's risk of developing this complex condition.