bowang0911/MedQuAD huggingface dataset:
Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.
What are the signs and symptoms of Cone dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 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.
How is cone dystrophy diagnosed? The diagnosis of cone dystrophy is made based upon the presence of characteristic symptoms, a detailed family history, a thorough clinical evaluation and a number of supporting tests. While exams that measure visual acuity, perception of color, and field of vision are used to arrive at a proper diagnosis, an electroretinogram (ERG) is used to confirm the diagnosis. During an ERG, eye drops are used to numb the eye before a special contact lens recorder is placed on the eye. Then a series of flashes of light are used to stimulate the retina. Doctors can then measure the electrical response of the rods and cones to the light. The test is performed twice  once in  bright room and again in a dark room. A weak of absent signal of cone cells indicates cone dystrophy. More details about the diagnosis of cone dystrophy can be accessed through the University of Michigan Kellogg Eye Center.
Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. Other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Symptoms usually develop after infants are weaned and begin to eat solid foods. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner.
What are the signs and symptoms of Lysinuric protein intolerance? The Human Phenotype Ontology provides the following list of signs and symptoms for Lysinuric protein intolerance. 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) Psychotic episodes 5% Alveolar proteinosis - Aminoaciduria - Anemia - Autosomal recessive inheritance - Cutis laxa - Delayed skeletal maturation - Diarrhea - Failure to thrive - Fine hair - Hemophagocytosis - Hepatomegaly - Hyperammonemia - Hyperextensible skin - Increased serum ferritin - Infantile onset - Leukopenia - Malnutrition - Muscle weakness - Muscular hypotonia - Nausea - Oroticaciduria - Osteoporosis - Pancreatitis - Phenotypic variability - Respiratory insufficiency - Short stature - Skeletal muscle atrophy - Sparse hair - Splenomegaly - Stage 5 chronic kidney disease - Thrombocytopenia - Truncal obesity - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy 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) Hearing impairment 5% Microcephaly 5% Absent speech - Autosomal recessive inheritance - Choreoathetosis - Cortical visual impairment - Developmental regression - Developmental stagnation at onset of seizures - Failure to thrive - Feeding difficulties in infancy - Generalized tonic-clonic seizures - Global brain atrophy - Hyporeflexia of upper limbs - Irritability - Lower limb hyperreflexia - Muscular hypotonia - Myoclonus - Optic atrophy - Status epilepticus - Visual loss - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impaired blood flow causes damage to the heart and various other organs of the body.  Although the cause remains unknown, Takayasu arteritis appears to be an autoimmune condition, in which cells that fight infection and disease are wrongly targeted against the body's own tissues.
What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. 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% Aneurysm 90% Hyperhidrosis 90% Hypertensive crisis 90% Vasculitis 90% Weight loss 90% Abnormal pattern of respiration 50% Abnormality of the aortic valve 50% Anemia 50% Anorexia 50% Arthritis 50% Chest pain 50% Coronary artery disease 50% Dilatation of the ascending aorta 50% Gangrene 50% Hypertrophic cardiomyopathy 50% Inflammatory abnormality of the eye 50% Migraine 50% Muscle weakness 50% Myalgia 50% Pulmonary hypertension 50% Seizures 50% Skin ulcer 50% Visual impairment 50% Abnormality of the endocardium 7.5% Amaurosis fugax 7.5% Arthralgia 7.5% Cerebral ischemia 7.5% Gastrointestinal infarctions 7.5% Hemoptysis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Retinopathy 7.5% Arteritis - 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.
How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.
What are the signs and symptoms of Warfarin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin 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 vertebral ossification 90% Anteverted nares 90% Depressed nasal bridge 90% Epiphyseal stippling 90% Short nose 90% Anonychia 50% Brachydactyly syndrome 50% Cognitive impairment 50% Intrauterine growth retardation 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short neck 50% Abnormality of the outer ear 7.5% Abnormality of the tongue 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cataract 7.5% Choanal atresia 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Muscular hypotonia 7.5% Myelomeningocele 7.5% Optic atrophy 7.5% Proptosis 7.5% Seizures 7.5% Visual impairment 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.
Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected.  About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.
What are the signs and symptoms of Juvenile dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile dermatomyositis. 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) Autoimmunity 90% Chondrocalcinosis 90% Dry skin 90% Mucosal telangiectasiae 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Skin rash 90% Telangiectasia of the skin 90% Abnormality of temperature regulation 50% Alopecia 50% Arthralgia 50% Arthritis 50% Constipation 50% Cutaneous photosensitivity 50% Flexion contracture 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Restrictive lung disease 50% Skin ulcer 50% Vasculitis 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Arrhythmia 7.5% Coronary artery disease 7.5% EMG abnormality 7.5% Feeding difficulties in infancy 7.5% Gastrointestinal hemorrhage 7.5% Hypertrophic cardiomyopathy 7.5% Limitation of joint mobility 7.5% Neurological speech impairment 7.5% Pulmonary fibrosis 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Autosomal dominant inheritance - Myositis - Proximal muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Urachal cancer is a rare type of bladder cancer, making up less than 1% of all bladder cancers. Only about 350 cases have been described in the medical literature to date. The urachus is a primitive structure which before birth connected the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains.  Urachal cancers are classified as such based on location at the dome or anterior wall of the bladder and discovery of remnants of the urachus. Most urachal cancers are adenocarcinomas (cancers that develop from gland cells). Others may be sarcomas (which develop from connective tissue - such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer present with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Patients who present with early disease confined to the urachus have a good prognosis when treated with partial cystectomy, umbilicotomy, and urachal resection. The prognosis for those with advanced disease is less promising.
How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. The role of chemotherapy and radiation therapy for the treatment of urachal cancer is unclear, although some studies show that chemotherapy can induce objective response in some cases. Chemotherapy regimens that may be used include: single-agent 5-fluorouracil (5-FU), 5-FU and cisplatin, 5-FU, lomustine and vincristine, taxol and cisplatin, platinum and etoposide, and MVAC (methotrexate, vinblastine, doxorubicin, cisplatin) alone or in conjunction with radiation therapy.
What are the signs and symptoms of Familial joint instability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial joint instability 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 hip bone 90% Joint hypermobility 90% Patellar dislocation 90% Abnormality of the elbow 7.5% Abnormality of the femur 7.5% Abnormality of the shoulder 7.5% Hernia of the abdominal wall 7.5% Autosomal dominant inheritance - Congenital hip dislocation - Joint laxity - 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 Macular dystrophy, concentric annular? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, concentric annular. 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 - Dyschromatopsia - Foveal hyperpigmentation - Macular 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.
Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
What are the signs and symptoms of Papillary renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary renal cell carcinoma. 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 - Incomplete penetrance - Papillary renal cell carcinoma - 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.
Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.