bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Selig Benacerraf Greene syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Selig Benacerraf Greene 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 foot - Autosomal dominant inheritance - Autosomal recessive inheritance - Bicornuate uterus - Congenital onset - Hypertelorism - Hypertension - Low-set ears - Oligohydramnios - Potter facies - Primary amenorrhea - Proteinuria - Pulmonary hypoplasia - Retrognathia - Talipes equinovarus - Vaginal atresia - 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 signs and symptoms of Ataxia with Oculomotor Apraxia Type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia Type 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) Impaired distal tactile sensation 57% Tremor 57% Strabismus 30% Conjunctival telangiectasia 5% Areflexia 10/10 Cerebellar atrophy 8/8 Distal amyotrophy 10/10 Distal muscle weakness 10/10 Dysarthria 10/10 Dysphagia 10/10 Elevated alpha-fetoprotein 6/6 Gait ataxia 10/10 Impaired proprioception 10/10 Peripheral axonal neuropathy 8/8 Nystagmus 8/10 Pes cavus 12/18 Oculomotor apraxia 10/18 Scoliosis 7/18 Dystonia 5/18 Head tremor 5/19 Chorea 4/18 Hyporeflexia 4/18 Abnormal pyramidal signs - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Elevated serum creatine phosphokinase - Gaze-evoked nystagmus - Impaired distal vibration sensation - Increased antibody level in blood - Limb ataxia - Polyneuropathy - Pontocerebellar atrophy - Progressive - Progressive gait ataxia - Saccadic smooth pursuit - 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.
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.
What are the signs and symptoms of Intestinal pseudoobstruction neuronal chronic idiopathic X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Intestinal pseudoobstruction neuronal chronic idiopathic X-linked. 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) Hydronephrosis 5% Pyloric stenosis 5% Seizures 5% Spastic diplegia 5% Abdominal distention - Abnormal facial shape - Feeding difficulties in infancy - Hypertelorism - Increased mean platelet volume - Infantile onset - Intestinal malrotation - Intestinal pseudo-obstruction - Low-set ears - Patent ductus arteriosus - Smooth philtrum - Thrombocytopenia - Vomiting - X-linked recessive 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.
Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.
What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.
How is Friedreich ataxia inherited? Friedreich ataxia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, 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% chance to not have the condition and not be a carrier.
What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. 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 - Clubbing of fingers - Gingivitis - Increased antibody level in blood - Neutropenia - Periodontitis - Premature loss of teeth - 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 signs and symptoms of Chromosome Xp22 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome Xp22 deletion 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) Autistic behavior 100% Muscular hypotonia 5% Aggressive behavior - Attention deficit hyperactivity disorder - Impulsivity - Intellectual disability - Motor tics - 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.
Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. The standard treatment for DIGs is surgical resection (surgical procedure in which the portion of the brain with the tumor is removed).
What treatment is available for desmoplastic infantile gangliomas? Surgical resection (removal of the area of the brain with the tumor) has been the standard treatment reported in the medical literature. The size of the resection is probably based on the size of the tumor, although the extent of the resection is not documented for all cases reported in the medical literature. Adjuvant therapy is generally not performed when a gross total resection can be performed. When total resection is not possible, some of suggested chemotherapy, as the effects of radiation on extremely young children may be harmful.
What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. 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) Absent respiratory ciliary axoneme radial spokes - Autosomal recessive inheritance - Chronic rhinitis - Ciliary dyskinesia - Immotile cilia - Nasal polyposis - Nonmotile sperm - Sinusitis - 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 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.
Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include mild to moderate speech and learning difficulties; developmental delay; distinctive facial features; dental abnormalities; hypotonia and joint laxity; radioulnar synostosis; heart defects; hip dysplasia; and problems with ovarian function. An increased risk of childhood infections has also been reported. Tetrasomy X is caused by a random error that occurs during the development of an egg cell and is not caused by anything a mother does during her pregnancy.
What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. 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% Abnormality of the teeth 50% Cognitive impairment 50% Epicanthus 50% Hypertelorism 50% Joint hypermobility 50% Muscular hypotonia 50% Radioulnar synostosis 50% Strabismus 50% Upslanted palpebral fissure 50% Abnormality of immune system physiology 7.5% Abnormality of the hip bone 7.5% Brachydactyly syndrome 7.5% Clinodactyly of the 5th finger 7.5% Secondary amenorrhea 7.5% 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 tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mother. During the normal formation of egg cells, each egg cell contains one X chromosome to pass on to offspring. However, errors in cell division can cause an egg cell to have three or four X chromosomes, instead of one. If an egg cell with the extra X chromosomes is fertilized by a sperm cell with one X chromosome, the resulting embryo will have these extra chromosomes. Rarely, tetrasomy X may be caused by an error in cell division that occurs after an egg is fertilized, or by the presence of extra X chromosomes in some of the mother's cells.
What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. The Human Phenotype Ontology provides the following list of signs and symptoms for Tubular aggregate myopathy. 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 pupil 5% External ophthalmoplegia 5% Flexion contracture 5% Nyctalopia 5% Respiratory insufficiency 5% Adult onset - Areflexia of lower limbs - Autosomal dominant inheritance - Difficulty running - Easy fatigability - Elevated serum creatine phosphokinase - Exercise-induced myalgia - Frequent falls - Hyporeflexia of lower limbs - Increased variability in muscle fiber diameter - Muscle cramps - Muscle stiffness - Myopathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Type 2 muscle fiber atrophy - Weakness of the intrinsic hand muscles - 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. Are there different types of tubular aggregate myopathy? Yes. Symptoms of  tubular aggregate myopathy can be be grouped into at least three different types.  The first type is characterized by exercise induced cramps with or without muscle pain associated or not with weakness in the proximal muscles. The second type of tubular aggregate myopathy is characterized by isolated, slowly progressive weakness of the proximal muscles. The third type is characterized by progressive proximal weakness and sometimes fatigability. In this type the serum creatine kinase levels are often elevated.
Is tubular aggregate myopathy genetic? It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene. Sporadic cases of tubular aggregate myopathy have also been reported. Sporadic is used to denote either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.
Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. It is a type of aminoaciduria. The condition may be diagnosed based on the results of newborn screening tests. Most people with the condition have no symptoms (asymptomatic). For those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. Mental development is usually normal, though a few cases with intellectual impairment have been reported. The signs and symptoms of Hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings. Hartnup disease is caused by mutations in the SLC6A19 gene and is inherited in an autosomal recessive manner.[1][2] People with Hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications. In some cases, treatment with nicotinamide supplements and tryptophan ethyl ester may be indicated.