bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. 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 heme biosynthetic pathway 90% Hypersplenism 90% Pallor 90% Splenomegaly 90% Abnormality of iron homeostasis 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Abnormality of the teeth 50% Behavioral abnormality 50% Biliary tract abnormality 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Genu valgum 50% Hepatomegaly 50% Malabsorption 50% Malar prominence 50% Muscle weakness 50% Paresthesia 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Upslanted palpebral fissure 50% Abnormality of color vision 7.5% Abnormality of the thorax 7.5% Anterior hypopituitarism 7.5% Arthralgia 7.5% Bone marrow hypocellularity 7.5% Cataract 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypothyroidism 7.5% Neoplasm of the liver 7.5% Nyctalopia 7.5% Primary adrenal insufficiency 7.5% Pulmonary hypertension 7.5% Skeletal dysplasia 7.5% Skin ulcer 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Hypochromic microcytic anemia - Reduced beta/alpha synthesis ratio - 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 beta-thalassemia inherited? Beta-thalassemia major and beta-thalassemia intermedia are usually inherited in an autosomal recessive manner, which means both copies of the HBB gene in each cell have mutations. The parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. When two carriers have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% (1 in 4) chance to be unaffected and not be a carrier. Sometimes, people with only one HBB gene mutation in each cell (carriers) do have mild anemia. These people are said to have 'beta-thalassemia minor' or 'beta-thalassemia trait.'  In a small percentage of families, the condition is inherited in an autosomal dominant manner. In these cases, one mutated copy of the gene in each cell is enough to cause the signs and symptoms of beta-thalassemia.
What are the signs and symptoms of Leucine-sensitive hypoglycemia of infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Leucine-sensitive hypoglycemia of infancy. 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) Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Coma - Drowsiness - Hyperinsulinemic hypoglycemia - Hyperreflexia - Hypoglycemia - Intellectual disability - Irritability - Spasticity - Strabismus - 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.
Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. Difficulty with phase and sentence repetition are additionally present. Speech is typically well articulated and grammatically correct with good single-word comprehension. But over time, affected individuals may have trouble understanding long or complex verbal information, due to problems holding onto lengthy information that they hear. Language difficulties associated with LPA are due to shrinking, or atrophy, in the left posterior temporal cortex and inferior parietal lobule. Click here to view an image of the lobes of the brain.
How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf
What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. 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) Duodenal stenosis 90% Polyhydramnios 90% Abnormality of the pancreas 7.5% Abnormality of the pulmonary artery 7.5% Autosomal recessive inheritance - Duodenal atresia - 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 Amyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotonia 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) Autosomal recessive inheritance - Skeletal muscle 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.
Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems, varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate), may also be present. Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern.
What are the signs and symptoms of Lymphedema-distichiasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphedema-distichiasis 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) Corneal erosion 90% Distichiasis 90% Photophobia 90% Cataract 50% Muscle weakness 50% Ptosis 50% Abnormality of the pulmonary vasculature 7.5% Arrhythmia 7.5% Benign neoplasm of the central nervous system 7.5% Diabetes mellitus 7.5% Glomerulopathy 7.5% Patent ductus arteriosus 7.5% Proteinuria 7.5% Recurrent urinary tract infections 7.5% Renal duplication 7.5% Sarcoma 7.5% Skin ulcer 7.5% Webbed neck 7.5% Cleft palate 4% Cleft upper lip 4% Abnormality of the musculature - Autosomal dominant inheritance - Conjunctivitis - Corneal ulceration - Lymphedema - Predominantly lower limb lymphedema - Recurrent corneal erosions - Tetralogy of Fallot - Varicose veins - Ventricular septal defect - 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 Neuropathy, congenital, with arthrogryposis multiplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, congenital, with arthrogryposis multiplex. 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) Areflexia of lower limbs - Autosomal dominant inheritance - Babinski sign - Broad-based gait - Calcaneovalgus deformity - Congenital onset - Congenital peripheral neuropathy - Distal amyotrophy - Distal muscle weakness - Hyperlordosis - Hyporeflexia of lower limbs - Nonprogressive - 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.
Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene.
What are the signs and symptoms of Hemophilia B? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophilia B. 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 bleeding - Degenerative joint disease - Gastrointestinal hemorrhage - Joint hemorrhage - Persistent bleeding after trauma - Prolonged partial thromboplastin time - Prolonged whole-blood clotting time - Reduced factor IX activity - 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 signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Camptodactyly of finger - Distal arthrogryposis - Full cheeks - Growth hormone deficiency - Hammertoe - Intellectual disability, progressive - Intellectual disability, severe - Square face - 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 Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink 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) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - 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 Spinocerebellar ataxia 34? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 34. 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) Dry skin 90% Gait disturbance 90% Hypermelanotic macule 90% Hypohidrosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Urticaria 90% Abnormality of the musculature 7.5% Facial asymmetry 7.5% Strabismus 7.5% Fasciculations 5% Intention tremor 5% Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysdiadochokinesis - Gait ataxia - Hyperkeratosis - Hyporeflexia - 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.