fenil210/Med-Lamma huggingface dataset:
What are the symptoms of 8q12 microduplication syndrome ?
What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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 chromosome segregation 90% Blepharophimosis 90% Cognitive impairment 90% Highly arched eyebrow 90% Muscular hypotonia 90% Sensorineural hearing impairment 90% Strabismus 90% Ventricular septal defect 90% Abnormality of calvarial morphology 50% Abnormality of the cranial nerves 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Epicanthus 50% Long philtrum 50% Narrow mouth 50% Short toe 50% Telecanthus 50% Vesicoureteral reflux 50% Wide nasal bridge 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. + GARD + 8q12 microduplication syndrome
What is (are) Precocious puberty ?
Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always known. Some cases of precocious puberty are due to conditions that cause changes in the body's release of hormones. Treatment involves medications that can stop the release of sexual hormones. + GARD + Precocious puberty
What are the symptoms of Precocious puberty ?
What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. 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) Hypothyroidism 7.5% Autosomal dominant inheritance - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Isosexual precocious puberty - Short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Precocious puberty
What are the treatments for Precocious puberty ?
What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height levels. Additionally, there is little evidence suggesting that long term hormone treatment is associated with psychological or behavioral problems. More studies are needed to determine this association. + GARD + Precocious puberty
What are the symptoms of Red cell phospholipid defect with hemolysis ?
What are the signs and symptoms of Red cell phospholipid defect with hemolysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Red cell phospholipid defect with hemolysis. 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 - Hyperbilirubinemia - Reticulocytosis - 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 + Red cell phospholipid defect with hemolysis
What are the symptoms of Florid papillomatosis of the nipple ?
What are the signs and symptoms of Florid papillomatosis of the nipple? The Human Phenotype Ontology provides the following list of signs and symptoms for Florid papillomatosis of the nipple. 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 skin - Autosomal dominant 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 + Florid papillomatosis of the nipple
What are the symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV ?
What are the signs and symptoms of Aphalangia partial with syndactyly and duplication of metatarsal IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Aphalangia partial with syndactyly and duplication of metatarsal IV. 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 fingernails 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Microcephaly 90% Short distal phalanx of finger 90% Short stature 90% Abnormality of the metacarpal bones 50% Anonychia 50% Camptodactyly of finger 50% Hypoplastic toenails 50% Postaxial foot polydactyly 50% Split foot 50% Symphalangism affecting the phalanges of the hand 50% Toe syndactyly 50% Kyphoscoliosis 5% Aplasia/Hypoplasia of toe - Autosomal dominant inheritance - Cognitive impairment - Cutaneous finger syndactyly - Duplication of metatarsal bones - Intellectual disability - 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 + Aphalangia partial with syndactyly and duplication of metatarsal IV
What is (are) Creutzfeldt-Jakob disease ?
Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible. + GARD + Creutzfeldt-Jakob disease
What are the symptoms of Creutzfeldt-Jakob disease ?
What are the signs and symptoms of Creutzfeldt-Jakob disease? Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressive dementia. Initially, patients experience problems with muscular coordination; personality changes, including impaired memory, judgment, and thinking; and impaired vision. People with the disease also may experience insomnia, depression, or unusual sensations. CJD does not cause a fever or other flu-like symptoms. As the illness progresses, the patients mental impairment becomes severe. They often develop involuntary muscle jerks called myoclonus, and they may go blind. They eventually lose the ability to move and speak and enter a coma. Pneumonia and other infections often occur in these patients and can lead to death. There are several known variants of CJD. These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France-begins primarily with psychiatric symptoms, affects younger patients than other types of CJD, and has a longer than usual duration from onset of symptoms to death. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to learn what causes these variations in the symptoms and course of the disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Creutzfeldt-Jakob disease. 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) Increased CSF protein 5% Anxiety - Apathy - Aphasia - Autosomal dominant inheritance - Confusion - Delusions - Dementia - Depression - Extrapyramidal muscular rigidity - Gait ataxia - Hallucinations - Hemiparesis - Irritability - Loss of facial expression - Memory impairment - Myoclonus - Personality changes - Rapidly progressive - Supranuclear gaze palsy - Visual 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 + Creutzfeldt-Jakob disease
What causes Creutzfeldt-Jakob disease ?
What causes Creutzfeldt-Jakob disease? Some researchers believe an unusual 'slow virus' or another organism causes Creutzfeldt-Jakob disease (CJD). However, they have never been able to isolate a virus or other organism in people with the disease. Furthermore, the agent that causes CJD has several characteristics that are unusual for known organisms such as viruses and bacteria. It is difficult to kill, it does not appear to contain any genetic information in the form of nucleic acids (DNA or RNA), and it usually has a long incubation period before symptoms appear. In some cases, the incubation period may be as long as 40 years. The leading scientific theory at this time maintains that CJD and the other TSEs are caused by a type of protein called a prion. Prion proteins occur in both a normal form, which is a harmless protein found in the bodys cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein have the same sequence of amino acids (the 'building blocks' of proteins) but the infectious form of the protein takes a different folded shape than the normal protein. Sporadic CJD may develop because some of a persons normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Once they appear, abnormal prion proteins aggregate, or clump together. Investigators think these protein aggregates may lead to the neuron loss and other brain damage seen in CJD. However, they do not know exactly how this damage occurs. About 5 to 10 percent of all CJD cases are inherited. These cases arise from a mutation, or change, in the gene that controls formation of the normal prion protein. While prions themselves do not contain genetic information and do not require genes to reproduce themselves, infectious prions can arise if a mutation occurs in the gene for the bodys normal prion protein. If the prion protein gene is altered in a persons sperm or egg cells, the mutation can be transmitted to the persons offspring. Several different mutations in the prion gene have been identified. The particular mutation found in each family affects how frequently the disease appears and what symptoms are most noticeable. However, not all people with mutations in the prion protein gene develop CJD. + GARD + Creutzfeldt-Jakob disease
How to diagnose Creutzfeldt-Jakob disease ?
How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brains electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patients brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the patient, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death. Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder. + GARD + Creutzfeldt-Jakob disease
What are the treatments for Creutzfeldt-Jakob disease ?
How might Creutzfeldt-Jakob disease be treated? There is no treatment that can cure or control Creutzfeldt-Jakob disease (CJD). Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, so far none of these treatments has shown any consistent benefit in humans. Current treatment for CJD is aimed at alleviating symptoms and making the patient as comfortable as possible. Opiate drugs can help relieve pain if it occurs, and the drugs clonazepam and sodium valproate may help relieve myoclonus. During later stages of the disease, changing the persons position frequently can keep him or her comfortable and helps prevent bedsores. A catheter can be used to drain urine if the patient cannot control bladder function, and intravenous fluids and artificial feeding also may be used. + GARD + Creutzfeldt-Jakob disease
What is (are) Inflammatory linear verrucous epidermal nevus ?
Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to early childhood. It affects females more often than males. It usually occurs alone. Rarely ILVEN occurs in association with epidermal nevus syndrome. While rare ILVEN may become cancerous (i.e., transform to basal cell or squamous cell carcinoma). The cause of ILVEN is currently unknown. Click here to visit the DermNetNZ Web site and view an image of ILVEN. + GARD + Inflammatory linear verrucous epidermal nevus
What is (are) Autoimmune hepatitis ?
Autoimmune hepatitis is a disease in which the bodys immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, suggesting a genetic cause. This disease is most common in young girls and women. + GARD + Autoimmune hepatitis
What are the symptoms of Autoimmune hepatitis ?
What are the signs and symptoms of Autoimmune hepatitis? Symptoms of autoimmune hepatitis range from mild to severe. Fatigue is probably the most common symptom of autoimmune hepatitis. Other symptoms include: an enlarged liver jaundice itching skin rashes joint pain abdominal discomfort spider angiomas, or abnormal blood vessels, on the skin nausea vomiting loss of appetite dark urine pale or gray-colored stools People in advanced stages of the disease are more likely to have symptoms related to chronic liver disease, such as fluid in the abdomenalso called ascitesand mental confusion. Women may stop having menstrual periods. The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hepatitis. 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) Autoimmune antibody positivity - 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 + Autoimmune hepatitis
What causes Autoimmune hepatitis ?
What causes autoimmune hepatitis? Although the exact cause of autoimmune hepatitis is unknown, evidence suggests that liver injury in a patient with autoimmune hepatitis is the result of a cell-mediated immunologic attack. This autoimmune attack may be triggered by genetic factors, viral infections, or chemical agents. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, further suggesting a genetic cause. + GARD + Autoimmune hepatitis
How to diagnose Autoimmune hepatitis ?
How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy. + GARD + Autoimmune hepatitis