bowang0911/MedQuAD huggingface dataset:
Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women over age 20. However, the disorder may occur at any age and may affect males as well. Treatment may include radioiodine therapy, antithyroid drugs, and/or thyroid surgery.
What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' disease. 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 the abdomen - Congestive heart failure - Goiter - Graves disease - Hyperactivity - Hyperhidrosis - Hyperreflexia - Irritability - Muscle weakness - Onycholysis - Polyphagia - Pretibial myxedema - Proptosis - Weight loss - 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 Scott Bryant Graham syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scott Bryant Graham 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 dermatoglyphics 90% Abnormality of calvarial morphology 90% Abnormality of the eyelashes 90% Coarse hair 90% Cognitive impairment 90% Finger syndactyly 90% Hypertrichosis 90% Narrow nasal bridge 90% Short nose 90% Short stature 90% Thick eyebrow 90% Spina bifida occulta 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.
COACH syndrome is a condition that mainly affects the brain and liver.  Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia).  Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).  This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene.  COACH syndrome is considered a rare form of another condition, Joubert syndrome.
What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Primary central nervous system lymphoma (primary CNS lymphoma) is a rare form of non-Hodgkin lymphoma in which cancerous cells develop in the lymph tissue of the brain and/or spinal cord. Because the eye is so close to the brain, primary CNS lymphoma can also start in the eye (called ocular lymphoma). The signs and symptoms vary based on which parts of the central nervous system are affected, but may include nausea and vomiting; seizures; headaches; arm or leg weakness; confusion; double vision and/or hearing loss. The exact underlying cause of primary CNS lymphoma is poorly understood; however, people with a weakened immune system (such as those with acquired immunodeficiency syndrome) or who have had an organ transplant appear to have an increased risk of developing the condition. Treatment varies based on the severity of the condition and location of the cancerous cells.
What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. 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) Hirsutism 5% Acanthosis nigricans - Autosomal recessive inheritance - Bradycardia - Constipation - Dysphagia - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Exercise intolerance - Failure to thrive - Feeding difficulties - Flexion contracture - Generalized muscle weakness - Hepatic steatosis - Hepatomegaly - Hyperinsulinemia - Hyperlordosis - Hypertriglyceridemia - IgA deficiency - Ileus - Infantile onset - Insulin resistance - Lipodystrophy - Muscle mounding - Muscle stiffness - Muscular dystrophy - Myalgia - Osteopenia - Osteoporosis - Prolonged QT interval - Prominent umbilicus - Proximal muscle weakness - Pyloric stenosis - Recurrent infections - Scoliosis - Skeletal muscle hypertrophy - Spinal rigidity - Splenomegaly - 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.
Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.
What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age. The Human Phenotype Ontology provides the following list of signs and symptoms for Imerslund-Grasbeck 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) Autosomal recessive inheritance - Childhood onset - Confusion - Dementia - Malabsorption of Vitamin B12 - Megaloblastic anemia - Paresthesia - Proteinuria - Sensory impairment - 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 Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.
What are the signs and symptoms of Familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial tumoral calcinosis. 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) Bone pain 90% Chondrocalcinosis 90% Hyperphosphatemia 90% Hyperostosis 50% Osteomyelitis 50% Skin rash 50% Abnormality of the palate 7.5% Abnormality of the teeth 7.5% Abnormality of the voice 7.5% Arteriovenous malformation 7.5% Gingivitis 7.5% Hepatomegaly 7.5% Hyperhidrosis 7.5% Hypopigmented skin patches 7.5% Inflammatory abnormality of the eye 7.5% Neoplasm of the skin 7.5% Nephrocalcinosis 7.5% Splenomegaly 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 Optic atrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 6. 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 - Infantile onset - Optic atrophy - Photophobia - Red-green dyschromatopsia - Slow progression - Visual impairment - 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.
Binswanger's disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking). While there is no cure, the progression of Binswanger's disease can be slowed with healthy lifestyle choices. Treatment is based on the signs and symptoms present in each person.
What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease.
What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus
What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Cerebral calcification 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Cryptorchidism 90% Hemiplegia/hemiparesis 90% Hernia of the abdominal wall 90% Hydrocephalus 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Strabismus 90% Ventriculomegaly 90% Abnormality of the palate 50% Behavioral abnormality 50% Gait disturbance 50% Scoliosis 50% Short philtrum 50% Decreased body weight 7.5% Hearing abnormality 7.5% Increased bone mineral density 7.5% Joint hypermobility 7.5% Long face 7.5% Optic atrophy 7.5% Dandy-Walker malformation 5% Abnormality of the basal ganglia - Choreoathetosis - Coarse facial features - Deeply set eye - Flexion contracture - Gait ataxia - High-frequency hearing impairment - Hyperreflexia - Intellectual disability - Mandibular prognathia - Prominent forehead - Prominent nose - Seizures - Self-injurious behavior - Sensorineural hearing impairment - Spasticity - Thick vermilion border - Wide mouth - X-linked 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.
Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.
What causes Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Changes (mutations) in the WFS1 gene are responsible for approximately 90% of Wolfram syndrome type 1 cases. This gene encodes wolframin, a protein that is important for the proper functioning of the endoplasmic reticulum (the part of a cell that is involved in protein production, processing, and transport). Wolframin helps regulate the amount of calcium in cells, which is important for many different cellular functions. Mutations in WFS1 result in a defective form of wolframin that is unable to perform its normal role. This causes cells to trigger their own death (apoptosis). The death of cells in various organs and other parts of the body results in the signs and symptoms of Wolfram syndrome type 1. A specific mutation in the CISD2 gene causes Wolfram syndrome type 2. Although the exact function of this gene is not known, scientists suspect that it plays an important role in the mitochondria (the part of the cell where energy is produced). Mutations in CISD2 lead to the loss of mitochondria which decreases the amount of energy available to cells. Cells that do not have enough energy die. As in Wolfram syndrome type 1, the death of cells in different parts of the body results in the many health problems associated with Wolfram syndrome type 2. Mutations in mitochondrial DNA may also be a rare cause of Wolfram syndrome in some families.
Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.