Druvith/transformed_medDataset huggingface dataset:
What causes Primary carnitine deficiency ? 
 What causes primary carnitine deficiency? Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. This deficiency, as well as potential build-up of fatty acids within the cells, causes the signs and symptoms of the condition.
Is Primary carnitine deficiency inherited ? 
 How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the disease-causing gene. The parents of an affected individual, who each likely have one mutated copy, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children together, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.
What are the treatments for Primary carnitine deficiency ? 
 How might primary carnitine deficiency be treated? Most individuals with primary carnitine deficiency are followed by a metabolic doctor as well as a dietician familiar with this condition. Certain treatments may be advised for some children but not others. Treatment is often needed throughout life. The main treatment for this condition is lifelong use of L-carnitine, which is a natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. L-carnitine can reverse the heart problems and muscle weakness caused by this condition. In addition to L-carnitine, infants and young children with primary carnitine deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours. But some babies need to eat even more frequently than this. Many teens and adults with this condition can go without food for up to 12 hours without problems. Some children and teens benefit from a low-fat, high carbohydrate diet. Any diet changes should be made under the guidance of a metabolic specialist and/or dietician familiar with this condition. Ask your doctor whether your child needs to have any changes in his or her diet. Other treatments usually need to be continued throughout life. Infants and children with this condition need to eat extra starchy food and drink more fluids during any illness, even if they may not feel hungry, because they could have a metabolic crisis. Children who are sick often do not want to eat. If they wont or cant eat, they may need to be treated in the hospital to prevent serious health problems.
What are the symptoms of Cataract and cardiomyopathy ? 
 What are the signs and symptoms of Cataract and cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract and cardiomyopathy. 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) Cataract 90% Hypertrophic cardiomyopathy 90% Myopathy 90% Nystagmus 90% Strabismus 90% Myopia 50% Abnormal electroretinogram 7.5% Corneal dystrophy 7.5% Glaucoma 7.5% Thrombocytopenia 5% 3-Methylglutaconic aciduria - Autosomal recessive inheritance - Congenital cataract - Easy fatigability - Exercise intolerance - Exercise-induced lactic acidemia - Fatigue - Growth delay - Increased serum lactate - Infantile onset - Mitochondrial myopathy - Motor delay - Muscle weakness - Muscular hypotonia - Respiratory insufficiency - Variable expressivity - 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.
What is (are) Floating-Harbor syndrome ? 
 Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive.
What are the symptoms of Floating-Harbor syndrome ? 
 What are the signs and symptoms of Floating-Harbor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Floating-Harbor 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 eyelashes 90% Abnormality of the voice 90% Abnormality of thumb phalanx 90% Broad columella 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Short neck 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Wide mouth 90% Wide nasal bridge 90% Abnormality of immune system physiology 50% Abnormality of the clavicle 50% Abnormality of the soft palate 50% Brachydactyly syndrome 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Constipation 50% Deeply set eye 50% Hypertrichosis 50% Intrauterine growth retardation 50% Joint dislocation 50% Joint hypermobility 50% Malabsorption 50% Triangular face 50% Underdeveloped nasal alae 50% Abnormality of the fingernails 7.5% Abnormality of the urethra 7.5% Attention deficit hyperactivity disorder 7.5% Hypoplasia of penis 7.5% Strabismus 7.5% Telecanthus 7.5% Trigonocephaly 7.5% Atria septal defect 5% Coarctation of aorta 5% Conductive hearing impairment 5% Congenital posterior urethral valve 5% Cryptorchidism 5% Hydronephrosis 5% Hypermetropia 5% Hypospadias 5% Inguinal hernia 5% Mesocardia 5% Nephrocalcinosis 5% Persistent left superior vena cava 5% Recurrent otitis media 5% Umbilical hernia 5% Varicocele 5% Autosomal dominant inheritance - Celiac disease - Cone-shaped epiphyses of the phalanges of the hand - Downturned corners of mouth - Expressive language delay - Hirsutism - Joint laxity - Long eyelashes - Low posterior hairline - Posteriorly rotated ears - Prominent nose - Smooth philtrum - 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.
What causes Floating-Harbor syndrome ? 
 What causes Floating-Harbor syndrome? The exact cause of Floating-Harbor syndrome is not known. Autosomal dominant inheritance has been suggested.
What are the treatments for Floating-Harbor syndrome ? 
 How might Floating-Harbor syndrome be treated? Treatment for Floating-Harbor syndrome is symptomatic and supportive. For example, dental problems and cataracts may be surgically corrected and sign language and/or speech therapy may help with delays in expressive language. Additional management strategies may be obtained from the Floating Harbor Syndrome Support Group at: http://www.floatingharborsyndromesupport.com/ or 336-492-2641.
What are the symptoms of Single upper central incisor ? 
 What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - 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.
What is (are) Factor V deficiency ? 
 Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.
What are the symptoms of Factor V deficiency ? 
 What are the signs and symptoms of Factor V deficiency? The symptoms of factor V deficiency may include: Bleeding into the skin Excessive bruising Nose bleeds Bleeding of the gums Excessive menstrual bleeding Prolonged or excessive loss of blood with surgery or trauma Umbilical stump bleeding The Human Phenotype Ontology provides the following list of signs and symptoms for Factor V 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) Abnormal bleeding - Autosomal recessive inheritance - Bruising susceptibility - Epistaxis - Menorrhagia - Prolonged bleeding time - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor V activity - 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.
What causes Factor V deficiency ? 
 What causes factor V deficiency? Factor V deficiency is caused by mutations in the F5 gene that prevent the production of a functional factor V protein or decrease the amount of the protein in the bloodstream. Mutations are present in both copies of the F5 gene in each cell, which prevents blood from clotting normally.
What are the treatments for Factor V deficiency ? 
 How is factor V deficiency treated? Resources state that fresh plasma or fresh frozen plasma infusions will correct the deficiency temporarily and may be administered daily during a bleeding episode or after surgery.  Individuals with factor V deficiency should discuss treatment options with their primary health care provider and a hematologist.
What are the symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome ? 
 What are the signs and symptoms of Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular aplasia, tibial campomelia, and oligosyndactyly 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 fibula 90% Abnormality of the tibia 90% Absent hand 90% Abnormality of the cardiovascular system 50% Finger syndactyly 50% Premature birth 50% Respiratory insufficiency 50% Short stature 50% Split hand 50% Tarsal synostosis 50% Abnormality of the hand - Autosomal dominant inheritance - Fibular aplasia - Oligodactyly (feet) - Oligodactyly (hands) - Phenotypic variability - Shortening of the tibia - Syndactyly - Tibial bowing - 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.
What are the symptoms of 3 methylglutaconic aciduria type V ? 
 What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - 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.
What is (are) Acute respiratory distress syndrome ? 
 Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood.  People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enough oxygen from passing into the bloodstream. Symptoms may include difficulty breathing, low blood pressure and organ failure, rapid breathing and shortness of breath.
What are the treatments for Acute respiratory distress syndrome ? 
 How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lungs. A breathing machine is used to deliver high doses of oxygen and continued pressure called PEEP (positive end-expiratory pressure) to the damaged lungs. Patients often need to be deeply sedated with medications when using this equipment. Some research suggests that giving medications to temporarily paralyze a person with ARDS will increase the chance of recovery. Treatment continues until the patient is well enough to breathe on his/her own. More detailed information about the treatment of ARDS can be accessed through the National Heart, Lung and Blood Institute (NHLBI) and Medscape Reference.  An article detailing Oxygen Therapy is also available.
What are the symptoms of Late-onset retinal degeneration ? 
 What are the signs and symptoms of Late-onset retinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Late-onset retinal degeneration. 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) Adult-onset night blindness - Autosomal dominant inheritance - Retinal degeneration - Rod-cone dystrophy - Scotoma - Visual loss - 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.
What is (are) Gamma heavy chain disease ? 
 Gamma heavy chain disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains. In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body.  Gamma heavy chain disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma. However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Approximately one-third of individuals with gamma heavy chain disease are also diagnosed with an autoimmune disorder.
What are the symptoms of Gamma heavy chain disease ? 
 What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly).
What causes Gamma heavy chain disease ? 
 What causes gamma heavy chain disease?  The causes or risk factors for gamma heavy chain disease are not known.
What are the treatments for Gamma heavy chain disease ? 
 How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using "gamma heavy chain disease [ti] AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search.