fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Spinal muscular atrophy type 3 ?
What are the signs and symptoms of Spinal muscular atrophy type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 3. 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 recessive inheritance - Degeneration of anterior horn cells - EMG abnormality - Hand tremor - Hyporeflexia - Limb fasciculations - Muscle cramps - Muscle weakness - Progressive - Spinal muscular atrophy - Tongue fasciculations - 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. + GARD + Spinal muscular atrophy type 3
What is (are) Laryngomalacia ?
Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal congestion or may be a more high-pitched sound (stridor). Airway sounds typically begin at 4-6 weeks of age. Affected infants have a higher risk of gastroesophageal reflux, and in severe cases may have feeding problems. In rare cases, hypoxemia or hypoventilation may interfere with normal growth and development. The cause of this condition is unknown, but it is thought to be due to delayed maturation of the supporting structures of the larynx. In more than 90% of cases it gradually improves on its own, and noises disappear by age 2 in virtually all infants. + GARD + Laryngomalacia
What are the symptoms of Laryngomalacia ?
What are the signs and symptoms of Laryngomalacia? The Human Phenotype Ontology provides the following list of signs and symptoms for Laryngomalacia. 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 voice 90% Laryngomalacia 90% Cleft palate 50% Non-midline cleft lip 50% Abnormality of the trachea - Autosomal dominant inheritance - Congenital laryngeal stridor - Respiratory distress - 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. + GARD + Laryngomalacia
Is Laryngomalacia inherited ?
Is laryngomalacia inherited? Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature. In some of these cases, autosomal dominant inheritance has been suggested. Laryngomalacia has also been reported as being associated with various syndromes. In cases where these specific syndromes are inherited, a predisposition to being born with laryngomalacia may be present. However, even within a family, not all individuals affected with one of these syndromes will have the exact same signs and symptoms (including laryngomalacia). Syndromes that have been associated with laryngomalacia include diastrophic dysplasia, alopecia universalis congenital, XY gonadal dysgenesis, Costello syndrome, DiGeorge syndrome, and acrocallosal syndrome. The inheritance pattern depends upon the specific syndrome present. + GARD + Laryngomalacia
What are the symptoms of Pituitary hormone deficiency, combined 2 ?
What are the signs and symptoms of Pituitary hormone deficiency, combined 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pituitary hormone deficiency, combined 2. 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) Adrenal insufficiency - Autosomal recessive inheritance - Hypoglycemic seizures - Hypogonadism - Hypothyroidism - Neonatal hypoglycemia - Panhypopituitarism - Prolactin deficiency - Short stature - 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. + GARD + Pituitary hormone deficiency, combined 2
What are the symptoms of Multiple epiphyseal dysplasia 1 ?
What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 1. 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 50% Arthralgia 50% Brachydactyly syndrome 50% Micromelia 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Epiphyseal dysplasia - Generalized joint laxity - Hip osteoarthritis - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Limited hip movement - Mild short stature - Ovoid vertebral bodies - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - 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. + GARD + Multiple epiphyseal dysplasia 1
What are the symptoms of 5q- syndrome ?
What are the signs and symptoms of 5q- syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q- 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 cells of the megakaryocyte lineage - Autosomal dominant contiguous gene syndrome - Erythroid hypoplasia - Myelodysplasia - Refractory macrocytic anemia - Somatic mutation - Sporadic - 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. + GARD + 5q- syndrome
What is (are) Malakoplakia ?
Malakoplakia is a rare chronic inflammatory disease. It commonly involves the urinary tract, but may also involve the prostate, ureter, pelvis, bones, lungs, testes, gastrointestinal tract, skin, and kidney.  Malakoplakia of the kidney is often associated with chronic kidney infection and obstruction. E. coli  is the most common organism found in urine samples. Common symptoms of malakoplakia of the kidney include flank pain and signs of active kidney infection. It may affect one or both kidneys and can cause symptoms similar to that of kidney failure.Careful studies of the involved tissues can help to distinguish malakoplakia of the kidney from similar conditions, namely xanthogranulomatous pyelonephritis and megalocytic interstitial nephritis. + GARD + Malakoplakia
What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ?
What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. 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% Camptodactyly of finger 90% Cleft palate 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Abnormal form of the vertebral bodies 50% Abnormal lung lobation 50% Abnormality of epiphysis morphology 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Aplasia/Hypoplasia of the lungs 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Overfolded helix 50% Thin vermilion border 50% Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Mesomelic arm shortening - Mesomelic leg shortening - Retrognathia - 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. + GARD + Mesomelic dwarfism cleft palate camptodactyly
What is (are) Prinzmetal's variant angina ?
Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold, emotional stress, alcohol withdrawal, or vasoconstricting medications. The symptoms of this condition usually respond to treatment. Individuals with Prinzmetals' variant angina may have a higher risk for heart attack or arrhythmia. + GARD + Prinzmetal's variant angina
What are the symptoms of Prinzmetal's variant angina ?
What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, or arm Often occurs at rest Typically occurs at the same time each day, usually between midnight and 8am. Duration of pain is 5 to 30 minutes Pain is relieved by nitroglycerin Loss of consciousness + GARD + Prinzmetal's variant angina
What causes Prinzmetal's variant angina ?
What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood flow. A prolonged spasm can cause chest pain, or even a heart attack (myocardial infarction). + GARD + Prinzmetal's variant angina
What are the treatments for Prinzmetal's variant angina ?
What is the treatment for Prinzmetal's variant angina? The goal of treatment is to control chest pain and to prevent heart attack. Nitroglycerin or other nitrate medications may be prescribed to relieve chest pain. Calcium-channel blockers may be chronically needed. These medications widen the blood vessels to improve blood and oxygen flow. Medications may also include beta-blockers; however, in some individuals, beta-blockers may be harmful. + GARD + Prinzmetal's variant angina
What is (are) Arts syndrome ?
Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner. + GARD + Arts syndrome
What are the symptoms of Arts syndrome ?
What are the signs and symptoms of Arts syndrome? Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).   Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.  Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.  The Human Phenotype Ontology provides the following list of signs and symptoms for Arts 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 immune system physiology 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Hemiplegia/hemiparesis 90% Incoordination 90% Muscular hypotonia 90% Optic atrophy 90% Peripheral neuropathy 90% Sensorineural hearing impairment 90% Visual impairment 90% Muscle weakness 50% Respiratory insufficiency 50% Pancreatic fibrosis 7.5% Hyperreflexia 5% Absent speech - Areflexia - Ataxia - Death in infancy - Drooling - Dysphagia - Growth delay - Hearing impairment - Immunodeficiency - Intellectual disability - Neonatal hypotonia - Nystagmus - Progressive muscle weakness - Recurrent infections - Recurrent upper respiratory tract infections - Seizures - Spinal cord posterior columns myelin loss - Tetraplegia - Visual loss - 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. + GARD + Arts syndrome
What causes Arts syndrome ?
What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome. + GARD + Arts syndrome
Is Arts syndrome inherited ?
How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are typically much less severely affected.by Arts syndrome than males. In many cases, they do not experience any symptoms.  In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene. + GARD + Arts syndrome
What are the symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia ?
What are the signs and symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia. 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) Decreased number of CD4+ T cells - Decreased T cell activation - Immunodeficiency - Lymphoma - Recurrent viral infections - 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. + GARD + X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia