bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM 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 recessive inheritance - Cataract - Childhood-onset truncal obesity - Delayed speech and language development - Intellectual disability, moderate - Micropenis - Retinal dystrophy - Truncal obesity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Aplasia cutis congenita intestinal lymphangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. 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 hair quantity 90% Lymphedema 90% Single transverse palmar crease 90% Skull defect 90% Clinodactyly of the 5th finger 50% Decreased antibody level in blood 50% Hypoproteinemia 50% Lymphopenia 50% Malabsorption 50% Abnormality of coagulation 7.5% Chorioretinal coloboma 7.5% Myopia 7.5% Abnormal bleeding - Abnormality of the paranasal sinuses - Aplasia cutis congenita over the scalp vertex - Autosomal recessive inheritance - Generalized edema - Intestinal lymphangiectasia - 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 Pseudodiastrophic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudodiastrophic dysplasia. 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 form of the vertebral bodies 90% Elbow dislocation 90% Hypoplasia of the zygomatic bone 90% Scoliosis 90% Omphalocele 7.5% Autosomal recessive inheritance - Fever - Hypoplasia of midface - Hypoplasia of the odontoid process - Lumbar hyperlordosis - Malar flattening - Phalangeal dislocation - Platyspondyly - Rhizomelia - Severe short stature - Talipes equinovarus - Tongue-like lumbar vertebral deformities - 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 Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. 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) Metamorphopsia 5% Nyctalopia 5% Photophobia 5% Autosomal dominant inheritance - Macular dystrophy - Reticular retinal dystrophy - 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 Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jensen 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) Blindness - Cerebral calcification - Dementia - Generalized amyotrophy - Infantile sensorineural hearing impairment - Optic atrophy - X-linked 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.
Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The exact underlying cause of POTS is currently unknown. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Treatment aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition.
What are the signs and symptoms of postural orthostatic tachycardia syndrome? Postural orthostatic tachycardia syndrome (POTS) is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Other symptoms reported in POTS include: Visual changes (i.e. blurry vision) Throbbing of the head Poor concentration Tiredness Gastrointestinal symptoms (i.e. nausea, cramps, bloating, constipation, diarrhea) Shortness of breath Head, neck and/or chest discomfort Weakness Sleep disorders Exercise intolerance Sweating Anxiety
What causes postural orthostatic tachycardia syndrome? The underlying cause of postural orthostatic tachycardia syndrome (POTS) is poorly understood. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. Many researchers suspect that there may be more than one cause for the condition. The following abnormalities can be associated with POTS and may play a role in the development of the condition: Peripheral denervation - reduced nerve stimulation to certain muscles. The lower extremities are generally most affected in people with POTS. Hypovolemia - an abnormal decrease or redistribution of blood in the body Changes in venous function - more specifically, a reduction in the volume of blood that returns to the heart (venous return) when moving from a lying down to a standing position Cardiovascular deconditioning - changes in cardiovascular function Baroreflex abnormalities - the baroreflexes play an important role in blood pressure regulation. When they sense a change in blood pressure, the heart rate is adjusted and the sympathetic nerve system fibers are activated to cause the blood vessels to narrow. Increased activity of the sympathetic nervous system Although most cases of POTS appear to occur sporadically in people with no family history of the condition, some affected people report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that genetic factors may play a role in the development of POTS in some cases. Some studies also suggest that polymorphisms in certain genes (NOS3, ADRB2) may be associated with an increased risk of developing the condition and a change (mutation) in the norepinephrine transporter gene (SLC6A2) has been identified in one family with POTS.
Is postural orthostatic tachycardia syndrome inherited? Most cases of postural orthostatic tachycardia syndrome (POTS) are not thought to be inherited. Although the condition generally occurs sporadically, some people with POTS do report a family history of orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). This suggests that inherited factors may play a role in the development of POTS in some families.
How is postural orthostatic tachycardia syndrome treated? Because postural orthostatic tachycardia syndrome (POTS) is thought to have a variety of causes, there is no single treatment that is effective for all people with the condition. In general, management of POTS aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. In some affected people, simple life style interventions such as adding extra salt to the diet, ensuring adequate fluid intake, participating in a specialized exercise program, and avoiding factors that exacerbate the condition appear to improve symptoms. Certain medications have also been used to treat POTS with some success.
2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.
What are the signs and symptoms of 2-methyl-3-hydroxybutyric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methyl-3-hydroxybutyric aciduria. 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) Choreoathetosis - Delayed speech and language development - Developmental regression - Hypertrophic cardiomyopathy - Hypoglycemia - Infantile onset - Intellectual disability - Lactic acidosis - Metabolic acidosis - Muscular hypotonia - Nystagmus - Progressive neurologic deterioration - Restlessness - Retinal degeneration - Seizures - Sensorineural hearing impairment - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Otofaciocervical syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Otofaciocervical 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) Abnormal dermatoglyphics 90% Abnormality of periauricular region 90% Abnormality of the clavicle 90% Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Conductive hearing impairment 90% Depressed nasal bridge 90% Full cheeks 90% Hyperreflexia 90% Hypertonia 90% Macrotia 90% Neurological speech impairment 90% Short stature 90% Sprengel anomaly 90% Abnormality of the antihelix 50% Delayed skeletal maturation 50% Atresia of the external auditory canal 7.5% Facial asymmetry 7.5% Renal hypoplasia/aplasia 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 are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. 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 teeth 90% Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 90% Cognitive impairment 90% Facial palsy 90% Iris coloboma 90% Microcephaly 90% Narrow mouth 90% Nystagmus 90% Respiratory insufficiency 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Trismus 90% Vertebral segmentation defect 90% 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.
Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males. Most cases of Fournier gangrene are caused by an infection in the genital area or urinary tract. People with impaired immunity (i.e. due to diabetes or HIV) have an increased susceptibility to the condition. Treatment generally includes surgery and medications such as antibiotics and/or antifungal therapy.
What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. 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) Accelerated skeletal maturation 90% Bone cyst 90% Cerebral calcification 90% EEG abnormality 90% Macrocephaly 90% Tall stature 90% Incoordination 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. 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 7p 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.