fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Epilepsy progressive myoclonic type 3 ?
What are the signs and symptoms of Epilepsy progressive myoclonic type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy progressive myoclonic 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) Cerebellar atrophy 5% Cerebral atrophy 5% Hypoplasia of the corpus callosum 5% Microcephaly 5% Visual loss 5% Autosomal recessive inheritance - Dysarthria - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Generalized myoclonic seizures - Intellectual disability - Progressive - Truncal ataxia - 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. + GARD + Epilepsy progressive myoclonic type 3
What are the symptoms of PCDH19-related female-limited epilepsy ?
What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. 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) Intellectual disability 30% Absence seizures - Aggressive behavior - Atonic seizures - Focal seizures - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Infantile onset - Psychosis - Status epilepticus - X-linked 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. + GARD + PCDH19-related female-limited epilepsy
What is (are) Multiple sclerosis ?
Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. The symptoms vary widely from person to person, and may include sensory disturbances in the limbs, problems with muscle control, tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness, difficulty walking, poor bladder control, and vision problems. Most patients have periods during which they have symptoms (clinical attacks). The clinical attacks are typically followed by periods without any symptoms (remission). After several years, the symptoms worsen continuously. Multiple sclerosis is considered an autoimmune disorder but the exact cause is unknown. Risk factors for developing multiple sclerosis include genetic factors like changes in the HLA-DRB1 gene and in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The goal of treatment of MS is to decrease attacks and the inflammation within the central nervous system. + GARD + Multiple sclerosis
What causes Multiple sclerosis ?
What causes multiple sclerosis? Studies suggest that there are many factors that influence whether a person will develop multiple sclerosis (MS). The factors that contribute to its onset are multiple and may vary from person to person. The signs and symptoms of MS occur as a result of inflammation, loss of the protective nerve covering (myelin), and the breakdown of nerve cells. The most widely accepted theory is that MS begins as an autoimmune disorder, where white blood cells (lymphocytes) attack healthy tissues. Later, signs and symptoms occur as a result of abnormal activity of specific cells in the brain and spinal cord (microglial cells) and progressive injury and loss of brain and spinal cord cells. Additional theories regarding the cause of MS include chronic viral infections and genetic disease. Although many viruses, and particularly the Epstein-Barr virus, have been associated with MS, there is no specific evidence linking viruses directly to the development of MS. Still, Epstein-Barr virus infection is considered a risk factor for the disease. Certain gene changes, including ones in HLA-DRB1 are associated with an increased risk for developing multiple sclerosis. However, it is unclear exactly what role these gene changes play in the development of MS. Having a first-degree relative with MS, like a parent or sibling, does increase a persons risk for the condition (to around 2%). Learn more about gene changes and MS. Vitamin D is another area of interest. Those who are exposed to more sunlight tend to have higher levels of naturally-produced vitamin D, which is thought to support the immune function and may help protect against immune-mediated diseases like MS. Further information on the cause of MS is available at the National Multiple Sclerosis Society Web site. + GARD + Multiple sclerosis
How to diagnose Multiple sclerosis ?
How is multiple sclerosis diagnosed? Symptoms of multiple sclerosis (MS) may be similar to those of many other nervous system disorders. The disease is made based on the person's signs and symptoms and is typically diagnosed by ruling out other conditions. "Dissemination in time and space" are commonly-used criteria for diagnosing the relapsing-remitting form of MS (RR-MS). "Dissemination in time means" that there are at least two clinical attacks, each lasting at least 24 hours, separated by at least one month, or a slow, step-wise progressive course for at least six months. "Dissemination in space" means that there are lesions in more than one area of the brain or spinal cord. For primary progressive MS (PP-MS), there are currently no diagnostic criteria that are universally accepted. Physicians may do many tests to evaluate an individual suspected of having MS. Neurological Exam: May show reduced nerve function in one area of the body or over many parts of the body. This may include abnormal nerve reflexes, decreased ability to move a part of the body, decreased or abnormal sensation, and other loss of nervous system functions. Eye Exam: May show abnormal pupil responses, changes in the visual fields or eye movements, decreased visual acuity, problems with the inside parts of the eye, and rapid eye movements triggered when the eye moves. Other Tests: Lumbar puncture (spinal tap) for cerebrospinal fluid tests, MRI scan of the brain, MRI scan of the spine; nerve function study; and several of blood tests. The Revised McDonald Criteria, published In 2010 by the International Panel on the Diagnosis of Multiple Sclerosis, include specific guidelines for using MRI, visual evoked potentials (VEP) and cerebrospinal fluid analysis to speed the diagnostic process. + GARD + Multiple sclerosis
What is (are) Neurofibroma ?
A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common. + GARD + Neurofibroma
What are the symptoms of Reardon Wilson Cavanagh syndrome ?
What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing impairment - 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. + GARD + Reardon Wilson Cavanagh syndrome
What are the symptoms of Optic atrophy 5 ?
What are the signs and symptoms of Optic atrophy 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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) Autosomal dominant inheritance - Central scotoma - Optic atrophy - Slow decrease in visual acuity - Tritanomaly - 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. + GARD + Optic atrophy 5
What is (are) HELLP syndrome ?
nan + GARD + HELLP syndrome
What are the symptoms of HELLP syndrome ?
What are the signs and symptoms of HELLP syndrome? Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands. Vision problems may also be observed. Rarely, they may have bleeding from the gums or other places.  Because healthy pregnant women may also have these symptoms late in pregnancy, it may be hard to know for sure if they are attributable to HELLP syndrome. A doctor may order blood tests to determine if these symptoms are the result of HELLP syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for HELLP 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 - Eclampsia - Edema - Elevated hepatic transaminases - Hypertension - Intrauterine growth retardation - Maternal hypertension - Preeclampsia - Proteinuria - Seizures - Thrombocytopenia - 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. + GARD + HELLP syndrome
What causes HELLP syndrome ?
What causes HELLP syndrome? Doctors are still unclear on what exactly causes HELLP syndrome. Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure), there are still a number of women who get it without previously showing signs of preeclampsia. The following risk factors may increase a woman's risk of developing HELLP syndrome: Previous pregnancy with HELLP Syndrome (19-27% chance of recurrence in each pregnancy) Preeclampsia or pregnancy induced hypertension Women over the age of 25 Being caucasian Multiparous (given birth two or more times) + GARD + HELLP syndrome
What is (are) Trismus-pseudocamptodactyly syndrome ?
Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most serious complications of the condition occur as a result of the limited mobility of the mouth. Treatment may involve surgical correction and physical therapy. + GARD + Trismus-pseudocamptodactyly syndrome
What are the symptoms of Trismus-pseudocamptodactyly syndrome ?
What are the signs and symptoms of Trismus-pseudocamptodactyly syndrome? While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4 of an inch) and shortened muscles, including of the hamstrings and calf muscles. As a result of shortened muscles some infants with trismus-pseudocamptodactyly syndrome have closed or clinched fists, club foot, metatarsus adductus, and calcaneovalgus (where the foot bends sharply at the ankle) at birth. Children with this syndrome may crawl on their knuckles. In adulthood the syndrome may cause reduced hand dexterity, however hand limitation does not often interfere with normal function. The most serious complications of the condition occur as a result of the limited mobility of the mouth, including impairment of adequate calorie intake, speech development, dental care, and difficulty with intubation. The Human Phenotype Ontology provides the following list of signs and symptoms for Trismus-pseudocamptodactyly 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 musculature 90% Limitation of joint mobility 90% Short stature 90% Symphalangism affecting the phalanges of the hand 90% Abnormality of the hip bone 7.5% Mandibular prognathia 7.5% Ptosis 7.5% Deep philtrum 5% Macrocephaly 5% Autosomal dominant inheritance - Cutaneous syndactyly of toes - Distal arthrogryposis - Dysphagia - Facial asymmetry - Feeding difficulties - Hammertoe - Hip dislocation - Talipes equinovarus - Trismus - 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. + GARD + Trismus-pseudocamptodactyly syndrome
What are the treatments for Trismus-pseudocamptodactyly syndrome ?
How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. We recommend that you speak with your healthcare provider to learn more about specific treatment options. + GARD + Trismus-pseudocamptodactyly syndrome
What is (are) Porphyria cutanea tarda ?
Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer. In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. For example, factors such as excess iron, alcohol, estrogens, smoking, chronic hepatitis C, HIV and mutations in the HFE gene (which is associated with the disease hemochromatosis) can all contribute to the development of PCT. Less commonly, PCT can run in families (called familial PCT). Familial PCT is caused by changes (mutations) in the UROD gene and is inherited in an autosomal dominant manner. Treatment may include regular phlebotomies (removing a prescribed amount of blood from a vein), certain medications, and/or removal of factors that may trigger the disease. + GARD + Porphyria cutanea tarda
What are the symptoms of Porphyria cutanea tarda ?
What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. 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) Abnormal blistering of the skin 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Skin rash 90% Thin skin 90% Atypical scarring of skin 7.5% Cerebral palsy 7.5% Cirrhosis 7.5% Edema 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Neoplasm of the liver 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% Alopecia - Autosomal dominant inheritance - Facial hypertrichosis - Fragile skin - Hepatocellular carcinoma - Hyperpigmentation in sun-exposed areas - Onycholysis - Scleroderma - 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. + GARD + Porphyria cutanea tarda
What is (are) Hidradenocarcinoma ?
Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland.  It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body.  This type of tumor typically develops in older individuals (after age 40).  Each hidradenocarcinoma develops differently over time; some may stay the same size and others grow rapidly.  Sometimes it may spread into nearby tissues, or to more distant parts of the body in a process called metastasis.  It is not known why some hidradenocarcinomas progress rapidly while others remain stable. + GARD + Hidradenocarcinoma
What are the treatments for Hidradenocarcinoma ?
How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment.  Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues.  Surgery is often the first step and aims to remove as much of the cancer as possible.  Both a traditional surgical technique, known as wide local excision, and the newer Mohs micrographic surgery have been used to remove hidradenocarcinomas.  Radiation therapy, performed by a doctor known as radiation oncologist, has been used after surgery in patients with hidradenocarcinoma to destroy any cancer cells that may remain at the original location of the tumor or in the lymph nodes.  Chemotherapy, performed by a doctor known as a medical oncologist, has not yet been proven as effective treatment for hidradenocarcinomas. + GARD + Hidradenocarcinoma