umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ?

Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat 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) Abnormality of bone mineral density 90% Abnormality of epiphysis morphology 90% Abnormality of the femur 90% Abnormality of the hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Genu varum 90% Hyperlordosis 90% Micromelia 90% Platyspondyly 90% Short neck 90% Short thorax 90% Thin vermilion border 90% Depressed nasal bridge 50% Gait disturbance 50% Hepatomegaly 50% Joint hypermobility 50% Round face 50% Splenomegaly 50% Wormian bones 7.5% Abdominal distention - Abnormality of the abdominal wall - Autosomal recessive inheritance - Bell-shaped thorax - Central vertebral hypoplasia - Coxa vara - Delayed epiphyseal ossification - Disproportionate short stature - Fibular overgrowth - Flared metaphysis - Joint laxity - Lumbar hyperlordosis - Metaphyseal irregularity - Narrow greater sacrosciatic notches - Narrow vertebral interpedicular distance - Short femoral neck - Short ribs - Spondyloepimetaphyseal dysplasia - Vertebral hypoplasia - 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.
Question: What are the symptoms of Encephalomyopathy ?

Answer: What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of visual evoked potentials 90% Aminoaciduria 90% Behavioral abnormality 90% Cerebral calcification 90% Cognitive impairment 90% Decreased body weight 90% Decreased nerve conduction velocity 90% Hearing impairment 90% Hypertrichosis 90% Incoordination 90% Microcephaly 90% Ptosis 90% Seizures 90% Short stature 90% Skeletal muscle atrophy 90% Ventriculomegaly 90% Visual impairment 90% Abnormality of the basal ganglia - Athetosis - Autosomal recessive inheritance - Cerebral atrophy - Decreased activity of mitochondrial respiratory chain - Delayed gross motor development - Dystonia - Elevated serum creatine phosphokinase - Facial diplegia - Failure to thrive - Feeding difficulties in infancy - Hyporeflexia - Infantile onset - Intellectual disability, progressive - Irritability - Lactic acidosis - Loss of ability to walk in early childhood - Methylmalonic acidemia - Methylmalonic aciduria - Muscular hypotonia - Ophthalmoplegia - Peripheral neuropathy - Progressive encephalopathy - Respiratory insufficiency due to muscle weakness - Sensorineural hearing impairment - 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.
Question: How to diagnose Inguinal Hernia ?

Answer: A health care provider diagnoses an inguinal hernia with
                
- a medical and family history  - a physical exam  - imaging tests, including x rays
                
Medical and family history. Taking a medical and family history may help a health care provider diagnose an inguinal hernia. Often the symptoms that the patient describes will be signs of an inguinal hernia.
                
Physical exam. A physical exam may help diagnose an inguinal hernia. During a physical exam, a health care provider usually examines the patients body. The health care provider may ask the patient to stand and cough or strain so the health care provider can feel for a bulge caused by the hernia as it moves into the groin or scrotum. The health care provider may gently try to massage the hernia back into its proper position in the abdomen.
                
Imaging tests. A health care provider does not usually use imaging tests, including x rays, to diagnose an inguinal hernia unless he or she
                
- is trying to diagnose a strangulation or an incarceration  - cannot feel the inguinal hernia during a physical exam, especially in patients who are overweight  - is uncertain if the hernia or another condition is causing the swelling in the groin or other symptoms
                
Specially trained technicians perform imaging tests at a health care providers office, an outpatient center, or a hospital.
                
A radiologista doctor who specializes in medical imaginginterprets the images. A patient does not usually need anesthesia.
                
Tests may include the following:
                
- Abdominal x ray. An x ray is a picture recorded on film or on a computer using a small amount of radiation. The patient will lie on a table or stand during the x ray. The technician positions the x-ray machine over the abdominal area. The patient will hold his or her breath as the technician takes the picture so that the picture will not be blurry. The technician may ask the patient to change position for additional pictures.  - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, the technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. A health care provider injects the contrast medium into a vein, and the injection will make the patient feel warm all over for a minute or two. The contrast medium allows the health care provider to see the blood vessels and blood flow on the x rays. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. A health care provider may give children a sedative to help them fall asleep for the test.  - Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure.
Question: What is (are) Bannayan-Riley-Ruvalcaba syndrome ?

Answer: Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a large head size (macrocephaly), multiple noncancerous tumors and tumor-like growths called hamartomas, and dark freckles on the penis in males. The signs and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or become apparent in early childhood.  At least half of affected infants have macrocephaly, and many also have a high birth weight and a large body size (macrosomia). Growth usually slows during childhood, so affected adults are of normal height and body size. About half of all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability or delayed development, particularly the development of speech and of motor skills such as sitting, crawling, and walking. These delays may improve with age.  About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop hamartomas in their intestines, known as hamartomatous polyps. Other noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome include fatty tumors called lipomas and angiolipomas that develop under the skin. Some affected individuals also develop hemangiomas, which are red or purplish growths that consist of tangles of abnormal blood vessels. People with Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing certain cancers, although researchers are still working to determine the cancer risks associated with this condition.  Other signs and symptoms that have been reported in people with Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other muscle abnormalities, thyroid problems, and seizures. Skeletal abnormalities have also been described with this condition, including an unusually large range of joint movement (hyperextensibility), abnormal side-to-side curvature of the spine (scoliosis), and a sunken chest (pectus excavatum).  The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas and other noncancerous growths; they also have an increased risk of developing certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with Cowden syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.
Question: What are the genetic changes related to PDGFRA-associated chronic eosinophilic leukemia ?

Answer: PDGFRA-associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in people with this condition. Genetic rearrangements and point mutations affecting the PDGFRA gene are somatic mutations, which are mutations acquired during a person's lifetime that are present only in certain cells. The somatic mutation occurs initially in a single cell, which continues to grow and divide, producing a group of cells with the same mutation (a clonal population).  The most common genetic abnormality in PDGFRA-associated chronic eosinophilic leukemia results from a deletion of genetic material from chromosome 4, which brings together part of the PDGFRA gene and part of the FIP1L1 gene, creating the FIP1L1-PDGFRA fusion gene.  The FIP1L1 gene provides instructions for a protein that plays a role in forming the genetic blueprints for making proteins (messenger RNA or mRNA).  The PDGFRA gene provides instructions for making a receptor protein that is found in the cell membrane of certain cell types. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and cell survival.  The FIP1L1-PDGFRA fusion gene (as well as other PDGFRA fusion genes) provides instructions for making a fusion protein that has the function of the normal PDGFRA protein. However, the fusion protein does not require ligand binding to be activated. Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. As a result, the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When the FIP1L1-PDGFRA fusion gene mutation or point mutations in the PDGFRA gene occur in blood cell precursors, the growth of eosinophils (and occasionally other blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRA-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.
Question: What are the symptoms of Muckle-Wells syndrome ?

Answer: What are the signs and symptoms of Muckle-Wells syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Muckle-Wells 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) Arthralgia 90% Arthritis 90% Broad foot 90% Cranial nerve paralysis 90% Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Nephropathy 50% Nephrotic syndrome 50% Urticaria 50% Abnormality of temperature regulation 7.5% Abnormality of the genital system 7.5% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Abnormality of the voice 7.5% Anemia 7.5% Camptodactyly of finger 7.5% Glaucoma 7.5% Hernia of the abdominal wall 7.5% Ichthyosis 7.5% Macrocephaly 7.5% Myalgia 7.5% Optic atrophy 7.5% Pes cavus 7.5% Polyneuropathy 7.5% Restrictive lung disease 7.5% Short stature 7.5% Skeletal muscle atrophy 7.5% Vasculitis 7.5% Abnormality of the skin - Autosomal dominant inheritance - Conjunctivitis - Elevated erythrocyte sedimentation rate - Episodic fever - Hearing impairment - Infantile onset - Leukocytosis - Progressive sensorineural hearing impairment - Recurrent aphthous stomatitis - Renal amyloidosis - Renal insufficiency - 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.
Question: What are the symptoms of Wittwer syndrome ?

Answer: What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer 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 fontanelles or cranial sutures 90% Anteverted nares 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Delayed skeletal maturation 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Seizures 90% Short stature 90% Single transverse palmar crease 90% Thin vermilion border 90% Abnormality of the ureter 50% Cryptorchidism 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormal lung lobation 7.5% Abnormality of the teeth 7.5% Abnormality of the thorax 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Aplasia/Hypoplasia of the lungs 7.5% Corneal dystrophy 7.5% Displacement of the external urethral meatus 7.5% Intestinal malrotation 7.5% Optic atrophy 7.5% Premature graying of hair 7.5% Growth delay - Intellectual disability - 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.
Question: What is (are) juvenile polyposis syndrome ?

Answer: Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous (benign) growths called juvenile polyps. People with juvenile polyposis syndrome typically develop polyps before age 20; however, in the name of this condition "juvenile" refers to the characteristics of the tissues that make up the polyp, not the age of the affected individual. These growths occur in the gastrointestinal tract, typically in the large intestine (colon). The number of polyps varies from only a few to hundreds, even among affected members of the same family. Polyps may cause gastrointestinal bleeding, a shortage of red blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of people with juvenile polyposis syndrome have other abnormalities, such as a twisting of the intestines (intestinal malrotation), heart or brain abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers or toes (polydactyly), and abnormalities of the genitalia or urinary tract.  Juvenile polyposis syndrome is diagnosed when a person has any one of the following: (1) more than five juvenile polyps of the colon or rectum; (2) juvenile polyps in other parts of the gastrointestinal tract; or (3) any number of juvenile polyps and one or more affected family members. Single juvenile polyps are relatively common in children and are not characteristic of juvenile polyposis syndrome.  Three types of juvenile polyposis syndrome have been described, based on the signs and symptoms of the disorder. Juvenile polyposis of infancy is characterized by polyps that occur throughout the gastrointestinal tract during infancy. Juvenile polyposis of infancy is the most severe form of the disorder and is associated with the poorest outcome. Children with this type may develop a condition called protein-losing enteropathy. This condition results in severe diarrhea, failure to gain weight and grow at the expected rate (failure to thrive), and general wasting and weight loss (cachexia). Another type called generalized juvenile polyposis is diagnosed when polyps develop throughout the gastrointestinal tract. In the third type, known as juvenile polyposis coli, affected individuals develop polyps only in their colon. People with generalized juvenile polyposis and juvenile polyposis coli typically develop polyps during childhood.  Most juvenile polyps are benign, but there is a chance that polyps can become cancerous (malignant). It is estimated that people with juvenile polyposis syndrome have a 10 to 50 percent risk of developing a cancer of the gastrointestinal tract. The most common type of cancer seen in people with juvenile polyposis syndrome is colorectal cancer.
Question: What are the symptoms of X-linked intellectual disability, Najm type ?

Answer: What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm 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) Aplasia/Hypoplasia of the cerebellum 90% Cognitive impairment 90% Abnormality of the nose 50% Broad forehead 50% Cataract 50% Cerebral cortical atrophy 50% Gait disturbance 50% Hypertelorism 50% Long philtrum 50% Macrotia 50% Microcephaly 50% Myopia 50% Nystagmus 50% Seizures 50% Sensorineural hearing impairment 50% Strabismus 50% Visual impairment 50% Chorioretinal coloboma 7.5% Hypertonia 7.5% Macrogyria 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Optic disc pallor 7.5% Optic nerve hypoplasia 7.5% Scoliosis 7.5% Absent speech - Broad nasal tip - Cerebellar hypoplasia - Decreased body weight - Dilated fourth ventricle - Epicanthus - Generalized hypotonia - High palate - Hyperreflexia - Hypohidrosis - Intellectual disability, moderate - Large eyes - Muscle weakness - Muscular hypotonia of the trunk - Oval face - Postnatal growth retardation - Prominent nasal bridge - Short nose - Short stature - Spasticity - Wide nasal bridge - X-linked dominant 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.