sarnsrun/medquad huggingface dataset:
Topic: Cone-rod dystrophy 2
Question: What are the symptoms of Cone-rod dystrophy 2 ?
Answer: What are the signs and symptoms of Cone-rod dystrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of color vision - Autosomal dominant inheritance - Blindness - Chorioretinal atrophy - Cone/cone-rod dystrophy - Constriction of peripheral visual field - Nyctalopia - Peripheral visual field loss - Reduced visual acuity - 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.
Source: GARD
Topic: Bronchiolitis obliterans organizing pneumonia
Question: What is (are) Bronchiolitis obliterans organizing pneumonia ?
Answer: Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.
Source: GARD
Topic: Bronchiolitis obliterans organizing pneumonia
Question: What are the symptoms of Bronchiolitis obliterans organizing pneumonia ?
Answer: What are the signs and symptoms of bronchiolitis obliterans organizing pneumonia (BOOP)? Signs and symptoms of BOOP vary. Some individuals with BOOP may have no apparent symptoms, while others may have severe respiratory distress as in acute, rapidly-progressive BOOP. The most common signs and symptoms of BOOP include shortness of breath (dyspnea), dry cough, and fever. Some people with BOOP develope a flu-like illness with cough, fever, fatigue, and weight loss.
Source: GARD
Topic: Bronchiolitis obliterans organizing pneumonia
Question: What causes Bronchiolitis obliterans organizing pneumonia ?
Answer: What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia (COP).
Source: GARD
Topic: Bronchiolitis obliterans organizing pneumonia
Question: How to diagnose Bronchiolitis obliterans organizing pneumonia ?
Answer: How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis.
Source: GARD
Topic: Bronchiolitis obliterans organizing pneumonia
Question: What are the treatments for Bronchiolitis obliterans organizing pneumonia ?
Answer: How might bronchiolitis obliterans organizing pneumonia (BOOP) be treated? Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial for individuals on a case-by-case basis include: cyclophosphamide, erythromycin in the form of azithromycin, and Mycophenolate Mofetil (CellCept). More esearch is needed to determine the long-term safety and effectiveness of these potential treatment options for individuals with BOOP. In rare cases, lung transplantation may be necessary for individuals with BOOP who do not respond to standard treatment options.
Source: GARD
Topic: Mycobacterium Malmoense
Question: What is (are) Mycobacterium Malmoense ?
Answer: Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis).
Source: GARD
Topic: Mycobacterium Malmoense
Question: What are the symptoms of Mycobacterium Malmoense ?
Answer: What are the signs and symptoms of mycobacterium malmoense infection? Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. malmoense infections can present as a single sided, non-tender, enlarging, neck mass. The mass may be violet in color and often does not respond to conventional antibiotic therapy. M. malmoense infection can also cause skin lesions or abscesses.
Source: GARD
Topic: Mycobacterium Malmoense
Question: What causes Mycobacterium Malmoense ?
Answer: How are mycobacterium malmoense infections contracted? M. Malmoense infection may be acquired by breathing in or ingesting the bacteria, or through trauma, such as an injury or surgical incision. People who have suppressed immune systems are at an increased risk for developing signs and symptoms from these infections.
Source: GARD
Topic: Nemaline myopathy
Question: What is (are) Nemaline myopathy ?
Answer: Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.
Source: GARD
Topic: Leber hereditary optic neuropathy
Question: What is (are) Leber hereditary optic neuropathy ?
Answer: Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.
Source: GARD
Topic: Leber hereditary optic neuropathy
Question: What causes Leber hereditary optic neuropathy ?
Answer: What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy.
Source: GARD
Topic: Leber hereditary optic neuropathy
Question: Is Leber hereditary optic neuropathy inherited ?
Answer: How is Leber hereditary optic neuropathy (LHON) inherited? Leber hereditary optic neuropathy is an inherited condition that has a mitochondrial pattern of inheritance. The gene mutations that cause this condition are found in the mitochondrial DNA. Mitochondria are inherited from a person's mother, and as a result, only females pass mitochondrial conditions on to their children. Men can be affected, but they cannot pass the condition on to their children. Often, people who develop the features of Leber hereditary optic neuropathy have no family history of the condition. Because a person may carry a mitochondrial DNA mutation without experiencing any signs or symptoms, it is hard to predict which members of a family who carry a mutation will eventually develop vision loss or other medical problems associated with Leber hereditary optic neuropathy. It is important to note that all females with a mitochondrial DNA mutation, even those who do not have any signs or symptoms, will pass the genetic change to their children.
Source: GARD
Topic: Sprengel deformity
Question: What is (are) Sprengel deformity ?
Answer: Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.
Source: GARD
Topic: Sprengel deformity
Question: What are the symptoms of Sprengel deformity ?
Answer: What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally). In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it. Other features that have been found in association with Sprengel deformity include: scoliosis Klippel Feil syndrome limb length discrepancy an underdeveloped backbone (hemivertebrae) missing, fused, or extra ribs (cervical ribs) abnormalities of the collarbone abnormalities of the chest organs of the body displaced on the opposite side (ex: liver on the left and heart on the right) spina bifida occulta cleft palate The Human Phenotype Ontology provides the following list of signs and symptoms for Sprengel deformity. 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 shoulder 90% Sprengel anomaly 90% Cleft palate 7.5% Autosomal dominant inheritance - Cervical segmentation defect - Hemivertebrae - Neck muscle hypoplasia - Rib segmentation abnormalities - Scoliosis - Shoulder muscle hypoplasia - Spina bifida occulta - Sporadic - 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.
Source: GARD
Topic: Sprengel deformity
Question: What are the treatments for Sprengel deformity ?
Answer: How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered.
Source: GARD
Topic: Immunotactoid or fibrillary glomerulopathy
Question: What is (are) Immunotactoid or fibrillary glomerulopathy ?
Answer: Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and  randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations.  Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy.  Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as "Congo red" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.
Source: GARD
Topic: Congenital hepatic fibrosis
Question: What is (are) Congenital hepatic fibrosis ?
Answer: Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated.
Source: GARD
Topic: Congenital hepatic fibrosis
Question: What causes Congenital hepatic fibrosis ?
Answer: What causes congenital hepatic fibrosis? Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). FCDs can be inherited as autosomal recessive , autosomal dominant , or X-linked recessive disorders.
Source: GARD
Topic: TAR syndrome
Question: What is (are) TAR syndrome ?
Answer: TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.
Source: GARD
Topic: TAR syndrome
Question: What are the symptoms of TAR syndrome ?
Answer: What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR 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) Bilateral radial aplasia 100% Abnormality of coagulation 90% Aplasia/Hypoplasia of the ulna 90% Thrombocytopenia 90% Clinodactyly of the 5th finger 75% Cow milk allergy 75% Coxa valga 75% Eosinophilia 75% Genu varum 75% Hip dislocation 75% Patellar aplasia 75% Abnormality of the intestine 50% Adducted thumb 50% Aplasia/hypoplasia of the humerus 50% Broad forehead 50% Broad thumb 50% High forehead 50% Low-set, posteriorly rotated ears 50% Patellar dislocation 50% Death in infancy 40% Anemia 33% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the shoulder 7.5% Carpal bone hypoplasia 7.5% Cavum septum pellucidum 7.5% Cerebellar hypoplasia 7.5% Cleft palate 7.5% Delayed CNS myelination 7.5% Edema of the dorsum of feet 7.5% Edema of the dorsum of hands 7.5% Finger syndactyly 7.5% Hepatosplenomegaly 7.5% Lateral clavicle hook 7.5% Malar flattening 7.5% Nevus flammeus of the forehead 7.5% Phocomelia 7.5% Ptosis 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Short phalanx of finger 7.5% Strabismus 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Tibial torsion 7.5% Short stature 7% Aplasia of the uterus 5% Axial malrotation of the kidney 5% Cervical ribs 5% Coarctation of aorta 5% Fibular aplasia 5% Fused cervical vertebrae 5% Anteverted nares - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Carpal synostosis - Decreased antibody level in blood - Horseshoe kidney - Meckel diverticulum - Motor delay - Pancreatic cysts - Seborrheic dermatitis - Seizures - Shoulder muscle hypoplasia - Spina bifida - 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.
Source: GARD