bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular 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) EMG abnormality 90% Hyperlordosis 90% Mask-like facies 90% Skeletal muscle atrophy 90% Abnormality of the eyelashes 50% Palpebral edema 50% Sensorineural hearing impairment 50% Abnormality of the retinal vasculature 7.5% Dysphagia 5% Abdominal wall muscle weakness - Autosomal dominant inheritance - Calf muscle hypertrophy - Childhood onset - Elevated serum creatine phosphokinase - External ophthalmoplegia - Exudative retinal detachment - Facial palsy - Intellectual disability - Restrictive respiratory insufficiency - Retinal telangiectasia - Scapular winging - Scapulohumeral muscular dystrophy - Seizures - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Tongue atrophy - 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 Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. 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 - EEG abnormality - Seizures - 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.
Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other parts of the body, such as the brain, lungs, liver, or intestines. HHT is caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.
What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. 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) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Anemia - Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Brain abscess - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Clubbing - Cyanosis - Dyspnea - Fingerpad telangiectases - Gastrointestinal angiodysplasia - Gastrointestinal arteriovenous malformation - Gastrointestinal telangiectasia - Hematemesis - Hematochezia - Hepatic arteriovenous malformation - Heterogeneous - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Melena - Mesenteric artery aneurysm - Nail bed telangiectasia - Nasal mucosa telangiectasia - Palate telangiectasia - Polycythemia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - 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.
Can hereditary hemorrhagic telangiectasia (HHT) be treated? Yes. Although there is not yet a way to prevent the telangiectases or AVMs associated with HHT, most can be treated once they occur. Management includes surveillance for undiagnosed AVMs and treatment for identified complications such as nosebleeds, gastrointestinal bleeding, anemia, pulmonary AVMs, cerebral AVMs, and hepatic AVMs. Treatment of nosebleeds with humidification and nasal lubricants, laser ablation, septal dermoplasty, or estrogen-progesterone therapy can prevent anemia and allow individuals with HHT to pursue normal activities. Individuals with GI bleeding are treated with iron therapy to maintain hemoglobin concentration; endoscopic application of a heater probe, bicap, or laser; surgical removal of bleeding sites; and estrogen-progesterone therapy. Iron replacement and red blood cell transfusions are used to treat anemia. Pulmonary AVMs with feeding vessels that exceed 3.0 mm in diameter require occlusion. Cerebral AVMs greater than 1.0 cm in diameter are treated by surgery, embolotherapy, and/or stereotactic radiosurgery. The treatment of choice for hepatic AVMs is liver transplantation. Blood-thinning medications (anticoagulants) and anti-inflammatory agents should be avoided. Some patients may need to take antibiotics during simple dental or surgical procedures. Individual patients and their doctors should make decisions regarding these measures, as necessary. Surveillance includes annual evaluations for anemia and neurologic conditions and re-evaluation for pulmonary AVMs every one to two years during childhood and every five years thereafter. Women with HHT considering pregnancy are screened and treated for pulmonary AVMs; if pulmonary AVMs are discovered during pregnancy, they are treated during the second trimester.
What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein deficiency. 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) Pigmentary retinopathy 2/16 Abnormality of the amniotic fluid - Autosomal recessive inheritance - Congestive heart failure - Dilated cardiomyopathy - Elevated hepatic transaminases - Failure to thrive - Generalized muscle weakness - Hydrops fetalis - Hyperammonemia - Hypoketotic hypoglycemia - Lactic acidosis - Muscular hypotonia - Myoglobinuria - Peripheral neuropathy - Prenatal maternal abnormality - Respiratory failure - Rhabdomyolysis - Small for gestational age - 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.
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda  Autosomal dominant spondyloepiphyseal dysplasia tarda  Spondyloepiphyseal dysplasia tarda Toledo type
What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. 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% Limitation of joint mobility 90% Short stature 90% Abnormal form of the vertebral bodies 50% Abnormality of the knees 50% Kyphosis 50% Osteoarthritis 50% Scoliosis 50% Abnormality of the foot - Arthropathy - Autosomal recessive inheritance - Camptodactyly of finger - Coxa vara - Decreased cervical spine mobility - Difficulty walking - Enlarged epiphyses - Enlarged interphalangeal joints - Enlarged metacarpophalangeal joints - Enlargement of the proximal femoral epiphysis - Flattened epiphysis - Genu varum - Joint stiffness - Joint swelling - Kyphoscoliosis - Metaphyseal widening - Muscle weakness - Osteoporosis - Platyspondyly - Sclerotic vertebral endplates - 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 Localized lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Localized lipodystrophy. 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 adipose tissue 90% Cellulitis 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.
What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia 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% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Delayed skeletal maturation 90% Abnormal form of the vertebral bodies 50% Abnormality of the fibula 50% Abnormality of the metacarpal bones 50% Short stature 50% Abnormality of the voice 7.5% Depressed nasal ridge 7.5% Microdontia 7.5% Nephrolithiasis 7.5% Abnormality of the vertebral column - Autosomal dominant inheritance - Coxa valga - Hypercalcemia - 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.
Nail-patella syndrome is an inherited condition characterized by abnormalities of the nails, knees, elbows, and pelvis. Some affected people may also experience problems in other areas of the body such as the kidneys and eyes. The severity of the condition and the associated signs and symptoms can vary significantly from person to person, even among members of the same family. Nail-patella syndrome is caused by changes (mutations) in the LMX1B gene and is inherited in an autosomal dominant manner. Treatment is supportive and based on the signs and symptoms present in each person.
What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella 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 pelvic girdle bone morphology 90% Abnormality of the fingernails 90% Anonychia 90% Cubitus valgus 90% Exostoses 90% Hypoplastic toenails 90% Joint hypermobility 90% Limitation of joint mobility 90% Patellar aplasia 90% Skeletal dysplasia 90% Sprengel anomaly 90% Joint dislocation 50% Joint swelling 50% Nephrotic syndrome 50% Osteoarthritis 50% Proteinuria 50% Cataract 7.5% Glaucoma 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hematuria 7.5% Hypertension 7.5% Nephropathy 7.5% Renal insufficiency 7.5% Vasculitis 7.5% Absence of pectoralis minor muscle - Absent distal interphalangeal creases - Antecubital pterygium - Autosomal dominant inheritance - Biceps aplasia - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Concave nail - Disproportionate prominence of the femoral medial condyle - Elongated radius - Glenoid fossa hypoplasia - Glomerulonephritis - Hypoplasia of first ribs - Hypoplastic radial head - Iliac horns - Keratoconus - Lester's sign - Limited elbow extension - Lumbar hyperlordosis - Microcornea - Microphakia - Patellar dislocation - Pectus excavatum - Pes planus - Ptosis - Quadriceps aplasia - Ridged nail - Scoliosis - Sensorineural hearing impairment - Short stature - Spina bifida - Talipes equinovarus - Thickening of the lateral border of the scapula - Triceps aplasia - 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 Short limb dwarf lethal Colavita Kozlowski type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short limb dwarf lethal Colavita Kozlowski 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) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - 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 Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal 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) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - 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.