Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ? 
 What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia 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) Macrocytic anemia 90% Sensorineural hearing impairment 90% Type I diabetes mellitus 90% Optic atrophy 50% Thrombocytopenia 50% Abnormality of retinal pigmentation 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Short stature 7.5% Sudden cardiac death 7.5% Visual impairment 7.5% Ataxia 5% Cardiomyopathy 5% Cryptorchidism 5% Gastroesophageal reflux 5% Seizures 5% Situs inversus totalis 5% Stroke 5% Abnormality of the skin - Aminoaciduria - Arrhythmia - Atria septal defect - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Congenital septal defect - Diabetes mellitus - Hoarse voice - Nystagmus - Retinal degeneration - Sideroblastic anemia - Thiamine-responsive megaloblastic anemia - Ventricular septal defect - 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 are the symptoms of Liver failure acute infantile ? 
 What are the signs and symptoms of Liver failure acute infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Liver failure acute infantile. 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) Abdominal distention - Abnormality of the coagulation cascade - Acute hepatic failure - Autosomal recessive inheritance - Elevated hepatic transaminases - Feeding difficulties in infancy - Hepatomegaly - Hyperbilirubinemia - Increased serum lactate - Jaundice - Lactic acidosis - Macrovesicular hepatic steatosis - Microvesicular hepatic steatosis - Mitochondrial respiratory chain defects - Muscular hypotonia - Vomiting - 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 Hamanishi Ueba Tsuji syndrome ? 
 What are the signs and symptoms of Hamanishi Ueba Tsuji syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hamanishi Ueba Tsuji 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) Camptodactyly of finger 90% Decreased nerve conduction velocity 90% Impaired pain sensation 90% Skeletal muscle atrophy 90% Hypohidrosis 50% Abnormality of the musculature - Autosomal recessive inheritance - Polyneuropathy - 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) Adult-onset vitelliform macular dystrophy ? 
 Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, which can progress to central vision loss over time.Historically, AVMD has been characterized as a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that there may be other unidentified genes and/or environmental causes.The majority of cases due to a mutation in the identified genes are inherited in an autosomal dominant manner; however not all individuals have AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.
What are the symptoms of Adult-onset vitelliform macular dystrophy ? 
 What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mild metamorphopsia (distorted vision). Cells underlying the macula become more damaged over time, which can cause slowly progressive vision loss. The condition is usually bilateral (affecting both eyes). It usually does not affect peripheral vision or the ability to see at night. Studies have revealed much variability in the signs, symptoms and progression of this condition. It has been reported that while one individual may not have significant changes in visual acuity over several years, another may experience ongoing visual loss. It has been suggested that in the majority of affected individuals, progression of functional loss is limited. In general, the long-term outlook (prognosis) is usually good, but loss of central visual function is possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset vitelliform macular dystrophy. 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 macula 90% Visual impairment 90% Abnormality of color vision 50% Abnormality of retinal pigmentation 50% Choroideremia 50% Visual field defect 50% Retinal detachment 7.5% Autosomal dominant inheritance - Macular atrophy - Macular dystrophy - Metamorphopsia - Photophobia - Reduced visual acuity - Vitelliform-like macular lesions - 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 Adult-onset vitelliform macular dystrophy ? 
 What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental origin, genetic origin, or a mix of genetics and environment (multifactorial).  More studies are needed to better define other underlying causes that might be present, whether of genetic or environmental origin.  Currently known genetic causes include mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes. It is additionally suspected that AVMD might be associated with a single-nucleotide polymorphism (variant DNA sequence) in the HTRA1 gene. Single-nucleotide polymorphisms in the HTRA1 gene are additionally associated with age-related macular degeneration.
Is Adult-onset vitelliform macular dystrophy inherited ? 
 How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from a new (de novo) mutation in the gene. These cases occur in people with no history of the disorder in their family. When caused by a known mutation inherited in an autosomal dominant manner, a person with adult-onset macular dystrophy (AVMD) has a 50% chance with each pregnancy of passing along the altered gene to his or her child.  The inheritance pattern of AVMD can be confusing as not all individuals with AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.
What are the treatments for Adult-onset vitelliform macular dystrophy ? 
 How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Intravitreal injections of either Ranibizumab or Bevacizumab may be effective in the short-term. Transcorneal electrical stimulation has also been found to improve visual acuity in individuals with this condition.
What is (are) Familial amyloidosis, Finnish type ? 
 Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea (corneal lattice dystrophy), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.
What is (are) Chromosome 8q deletion ? 
 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What is (are) Hemoglobin E disease ? 
 Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal recessive pattern and is caused by a particular mutation in the HBB gene. The mutation that causes hemoglobin E disease has the highest frequency among people of Southeast Asian heritage (Cambodian, Laotian, Vietnamese and Thai). However, it is also found in people of Chinese, Filipino, Asiatic Indian, and Turkish descent.
What are the symptoms of Hemoglobin E disease ? 
 What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to be a carrier or have hemoglobin trait. These individuals are typically asymptomatic, although they may have small red blood cells. However, carriers may be at risk to have children with hemoglobin E/thalassemia (which is similar to thalassemia) or hemoglobin sickle E disease (milder form of sickle cell anemia). Both of these conditions are much more severe than hemoglobin E disease. They are are also inherited in an autosomal recessive fashion.
How to diagnose Hemoglobin E disease ? 
 How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobin electrophoresis and iron studies might be done. These tests indicate whether a person has different types of hemoglobin. Genetic testing of the HBB gene can also be done to confirm a diagnosis.
What are the treatments for Hemoglobin E disease ? 
 How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.
What is (are) Juvenile temporal arteritis ? 
 Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.
What is (are) Ring chromosome 20 ? 
 Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning.
What are the treatments for Ring chromosome 20 ? 
 How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person. Broad spectrum AEDs are usually tried first since they are active against different seizure types. This includes valproate, levetiracetam, lamotrigine, topiramate and zonisamide. Success has been reported in some people with a combination of valproate and lamotrigine, but so far no single therapy has worked for everyone.  Vagus nerve stimulation (VNS) has been tried and a reduction in seizures has been reported in some cases but not in others. This involves implanting a medical device under the skin, similar to a pacemaker that delivers a mild electrical current to the brain via the vagus nerve. The long-term effectiveness of VNS therapy is not yet known.  The ketogenic diet, which is high in fat and low in carbohydrate, has been shown to be helpful in other types of epilepsy. However there are no published reports about whether this is successful or not in ring chromosome 20 epilepsy. For more information on treatment of seizures in people with R20 and general information on ring chromosome 20, visit the following link from Unique, The Rare Chromosome Disorder Support Group, a non-profit organization that supports chromosomal disorders.  http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf
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.
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)
What are the symptoms of Charcot-Marie-Tooth disease type 2D ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 2D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2D. 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 - Cold-induced hand cramps - Distal amyotrophy - Distal sensory impairment - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hammertoe - Hyporeflexia - Onset - Pes cavus - Scoliosis - Slow progression - Thenar muscle atrophy - Thenar muscle weakness - Upper limb amyotrophy - Upper limb muscle weakness - 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.