Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Presenile dementia, Kraepelin type ? 
 What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin type. 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 - Dementia - 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 Mental retardation, X-linked, nonspecific ? 
 What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. 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) Seizures 5% Autism - Dental crowding - Hyperactivity - Hypertelorism - Intellectual disability - Intellectual disability, moderate - Joint hypermobility - Mandibular prognathia - Open mouth - Short nose - Synophrys - Tented upper lip vermilion - Uplifted earlobe - Upslanted palpebral fissure - 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.
What are the symptoms of Oculoectodermal syndrome ? 
 What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - 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) Parsonage Turner syndrome ? 
 Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor. Suspected triggers include viral and bacterial infections; surgery; vaccinations; injury; childbirth; strenuous exercise; certain medical procedures; and various health conditions. Treatment is symptomatic and may include pain relievers and physical therapy.
What are the symptoms of Parsonage Turner syndrome ? 
 What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well.
What causes Parsonage Turner syndrome ? 
 What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above).
Is Parsonage Turner syndrome inherited ? 
 Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic amyotrophy, please click here.
How to diagnose Parsonage Turner syndrome ? 
 How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features. These tests may include nerve conduction studies (tests that determine the ability of a specific nerve to relay a message to the brain), electromyography, magnetic resonance imaging (MRI scan) and/or an X-ray.
What are the treatments for Parsonage Turner syndrome ? 
 How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.
What are the symptoms of Gupta Patton syndrome ? 
 What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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) Anotia - Aplasia/Hypoplasia of the middle ear - Autosomal recessive inheritance - Conductive hearing impairment - Facial asymmetry - Microtia - Wide mouth - 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 Reticular dysgenesis ? 
 What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. 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 mitochondrial metabolism 90% Abnormality of neutrophils 90% Anemia 90% Aplasia/Hypoplasia of the thymus 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Diarrhea 90% Hearing impairment 90% Leukopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sepsis 90% Severe combined immunodeficiency 90% Abnormality of temperature regulation 50% Malabsorption 50% Weight loss 50% Dehydration 7.5% Skin rash 7.5% Skin ulcer 7.5% Abnormality of the thymus - Absent cellular immunity - Autosomal recessive inheritance - Congenital agranulocytosis - Lymphopenia - 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 Bowen syndrome ? 
 What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen 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 cardiovascular system morphology - Abnormality of the ear - Agenesis of corpus callosum - Autosomal recessive inheritance - Congenital glaucoma - Death in childhood - Failure to thrive - Feeding difficulties in infancy - Hypospadias - 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) Tietze syndrome ? 
 Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders. The cause of this condition is unknown. In some cases, Tietze syndrome may resolve on its own without treatment. Management for others may include minimizing physical activity; applying local heat; and taking pain medications and/or nonsteroidal anti-inflammatory drugs. Of note, this syndrome is different from Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair.
What are the symptoms of Tietze syndrome ? 
 What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. More than 70% of cases occur on only one side (unilateral) and affect one joint. The affected joint is typically tender and swollen. While the pain associated with Tietze syndrome usually subsides after several weeks or months, the swelling may persist.
What causes Tietze syndrome ? 
 What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition.
Is Tietze syndrome inherited ? 
 Is Tietze syndrome inherited? Tietze syndrome is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition.
How to diagnose Tietze syndrome ? 
 How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A thorough physical exam and various tests (i.e. electrocardiogram, x-ray, CT scan) may be necessary to exclude other conditions.
What are the treatments for Tietze syndrome ? 
 How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections. Although the pain usually subsides after several weeks or months, swelling may persist.
What is (are) Geniospasm ? 
 Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age. Hereditary geniospasm is believed to be inherited in an autosomal dominant pattern. Although the exact gene(s) that cause the condition are unknown, it has been suggested that mutations in a gene on chromosome 9 may be responsible in some families.
What are the symptoms of Geniospasm ? 
 What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. 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 - Chin myoclonus - 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.
Is Geniospasm inherited ? 
 How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected. Because there is a 50% chance for each child, it is possible for all of the children of an affected individual to be affected, or likewise, for all of the children to be unaffected.
How to diagnose Geniospasm ? 
 How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.
What are the treatments for Geniospasm ? 
 How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.
What are the symptoms of Saccharopinuria ? 
 What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. 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 - EEG abnormality - Histidinuria - Hyperlysinuria - Intellectual disability - Short stature - Spastic diplegia - 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) Pityriasis rubra pilaris ? 
 Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present. PRP is usually sporadic (occurring randomly) but some forms may be inherited.