bowang0911/MedQuAD huggingface dataset:
Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper back; however, other symptoms may also develop when bone spurs press on nearby organs or parts of the body. The exact underlying cause of DISH remains unknown, although risk factors such as age, gender, long-term use of certain medications and chronic health conditions have been identified. Treatment for DISH depends on many factors including the signs and symptoms present in each person and the severity of the condition.
What are the signs and symptoms of Diffuse idiopathic skeletal hyperostosis? Many people affected by diffuse idiopathic skeletal hyperostosis (DISH) have no signs or symptoms of the condition. When present, symptoms vary but many include: Stiffness which is most noticeable in the morning Pain when pressure is applied to the affected area Loss of range of motion Difficulty swallowing or a hoarse voice Tingling, numbness, and/or weakness in the legs The upper portion of the back (thoracic spine) is the most commonly affected site; however, people with DISH may also experience symptoms in other places such as the heels, ankles, knees, hips, shoulders, elbows, and/or hands. The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse idiopathic skeletal hyperostosis. 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) Osteoarthritis 90% Obesity 50% Palmoplantar keratoderma 50% Autosomal dominant inheritance - Punctate palmar and solar hyperkeratosis - Vertebral hyperostosis - 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 diffuse idiopathic skeletal hyperostosis ? The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as diabetes mellitus, acromegaly, or certain inherited connective tissue disorders) may lead to DISH. Long-term use of medications called retinoids (such as isotretinoin) can increase the risk for DISH. Age (being older than age 50) and sex (being male) may also play a role.
How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin, others). Affected people with severe pain may be treated with corticosteroid injections. Physical therapy and/or exercise may reduce the stiffness associated with DISH and can help increase range of motion in the joints. In rare cases, surgery may be necessary if severe complications develop. For example, people who experience difficulty swallowing may need surgery to remove the bone spurs in the neck. How might severe diffuse idiopathic skeletal hyperostosis (DISH) be treated? Although diffuse idiopathic skeletal hyperostosis (DISH) affects 25% of men and 15% of women over the age of 50 years old, many affected people do not have symptoms. However some people with DISH have stiffness and pain, most commonly in the spinal region or back.  In rare cases the joint stiffness and pain is severe and the areas of the spine affected by DISH may have very limited movement. Knees, hips, hands and other joints may also be affected, more commonly in the more severe cases. Therapy for DISH is based on symptoms. In general, physical therapy, analgesics, sedation, anti-inflammatory drugs, and muscle relaxants have all been successful in managing the majority of patients with DISH. Even though few studies have focused on indications for surgery, it is generally accepted that surgery is indicated for patients with severe symptoms (such as airway obstruction and/or dysphagia) in whom conservative approach has failed.
What are the signs and symptoms of 1q44 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q44 microdeletion 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% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the philtrum 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertelorism 50% Microcephaly 50% Short stature 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Abnormality of the palate 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% High forehead 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Narrow forehead 7.5% Optic atrophy 7.5% Preauricular skin tag 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Synophrys 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 Hypertrichosis lanuginosa congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrichosis lanuginosa congenita. 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) Congenital, generalized hypertrichosis 90% Delayed eruption of teeth 90% Hearing impairment 90% Thick eyebrow 90% Abnormality of skin pigmentation 50% Gingival overgrowth 7.5% Autosomal dominant inheritance - Double eyebrow - 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 Congenital disorder of glycosylation type I/IIX? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorder of glycosylation type I/IIX. 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 metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Infantile spasms - 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.
Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. In some people, it's triggered by an infection, illness or certain medications. This condition can also occur with some types of cancer and other serious health problems. Most often, it isn't serious and will clear on its own in a few months. Healing is much more rapid, however, with treatment.
What are the signs and symptoms of Acute febrile neutrophilic dermatosis? The most obvious signs of acute febrile neutrophilic dermatosis are distinctive skin lesions that usually develop according to a specific pattern. Typically, a series of small red bumps appear suddenly on the back, neck, arms and face, often after a fever or upper respiratory infection. The bumps grow quickly in size, spreading into clusters called plaques that may be a centimeter in diameter or larger. The eruptions are tender or painful and may develop blisters, pustules or even ulcers. Lesions may persist for weeks to months and then disappear on their own, without medication. With medical treatment, the skin lesions may resolve in just a few days. Other signs and symptoms of acute febrile neutrophilic dermatosis may include: Moderate to high fever Pink eye (conjunctivitis) or sore eyes Tiredness Aching joints and headache Mouth ulcers The Human Phenotype Ontology provides the following list of signs and symptoms for Acute febrile neutrophilic dermatosis. 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 temperature regulation 90% Arthralgia 90% Hypermelanotic macule 90% Leukocytosis 90% Migraine 90% Myalgia 90% Skin rash 90% Skin ulcer 90% Splenomegaly 90% Hyperkeratosis 50% Abnormal blistering of the skin 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Glomerulopathy 7.5% Hematuria 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Proteinuria 7.5% Pulmonary infiltrates 7.5% Pustule 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Thrombocytopenia 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 acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)
How might acute febrile neutrophilic dermatosis be treated?  Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. Doctors usually prescribe systemic corticosteroids (prednisone or prednisolone) to treat this condition. These oral anti-inflammatory medications reduce redness, itching, swelling and allergic reactions.  In the pediatric population, long-term use of corticosteroids can cause problems with linear growth, blood pressure, and blood glucose levels. Children may also have social sequelae associated with their use. Therefore, attempts are usually made to treat children with steroid-sparing drugs. Other treatment options include indomethacin, colchicine, potassium iodide, dapsone, cyclosporine, etretinate, pentoxifylline, clofazimine, doxycycline, metronidazole, isotretinoin, methotrexate, cyclophosphamide, chlorambucil, and interferon alpha, all of which have shown some success in the resolution of symtpoms.   With or without treatment, the lesions rarely leave a mark or scar when they eventually disappear. Even after the lesions have resolved, treatment may continue, as recurrence of the condition is common. If an underlying cause can be identified, it should be treated (i.e. resection of solid tumors, treatment of infections, and discontinuation of causative medication). Successful therapy of the underlying disorder may promote resolution of acute febrile neutrophilic dermatosis and prevent recurrences.
Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.
What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. 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 pelvic girdle bone morphology - Absent ossification of calvaria - Autosomal dominant inheritance - Beaded ribs - Blue sclerae - Broad long bones - Congestive heart failure - Convex nasal ridge - Crumpled long bones - Disproportionate short-limb short stature - Large fontanelles - Multiple prenatal fractures - Nonimmune hydrops fetalis - Platyspondyly - Premature birth - Pulmonary insufficiency - Recurrent fractures - Respiratory insufficiency - Small for gestational age - Thin skin - Tibial bowing - Wormian bones - 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 Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture 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) Abnormality of the hip bone 90% Abnormality of the wrist 90% Hypoplasia of the odontoid process 90% Micromelia 90% Recurrent fractures 90% Short stature 90% Hyperlordosis 50% Abnormality of the metacarpal bones 7.5% Genu valgum 7.5% Kyphosis 7.5% Lower limb asymmetry 7.5% Pes planus 7.5% Scoliosis 7.5% Short distal phalanx of finger 7.5% Tetralogy of Fallot 7.5% Autosomal dominant inheritance - Coxa vara - Hyperconvex vertebral body endplates - Metaphyseal irregularity - Short femoral neck - Spondylometaphyseal dysplasia - Waddling gait - 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 Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. 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) Multicystic kidney dysplasia 90% Nephropathy 90% Diabetes mellitus 50% Biliary tract abnormality 33% Elevated hepatic transaminases 33% Elevated serum creatinine 33% Glucose intolerance 33% Glycosuria 33% Gout 33% Proteinuria 33% Stage 5 chronic kidney disease 33% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of male internal genitalia 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Arthritis 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hepatic steatosis 7.5% Hyperuricemia 7.5% Hypothyroidism 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Exocrine pancreatic insufficiency 6/7 Pancreatic hypoplasia 5/6 Renal cyst 19/23 Maturity-onset diabetes of the young 10/13 Abnormality of alkaline phosphatase activity 4/7 Multiple glomerular cysts 4/23 Bicornuate uterus 1/23 Hypoplasia of the uterus 1/23 Renal hypoplasia 1/23 Unilateral renal agenesis 1/23 Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased numbers of nephrons - Epididymal cyst - Hypospadias - Nephrolithiasis - Onset - Phenotypic variability - Ureteropelvic junction obstruction - 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.
Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.