umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Glaucoma ?

Answer: Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. While glaucoma can strike anyone, the risk is much greater for people over 60. How Glaucoma Develops  There are several different types of glaucoma. Most of these involve the drainage system within the eye. At the front of the eye there is a small space called the anterior chamber. A clear fluid flows through this chamber and bathes and nourishes the nearby tissues. (Watch the video to learn more about glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In glaucoma, for still unknown reasons, the fluid drains too slowly out of the eye. As the fluid builds up, the pressure inside the eye rises. Unless this pressure is controlled, it may cause damage to the optic nerve and other parts of the eye and result in loss of vision. Open-angle Glaucoma The most common type of glaucoma is called open-angle glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result. There is no cure for glaucoma. Vision lost from the disease cannot be restored. However, there are treatments that may save remaining vision. That is why early diagnosis is important.  See this graphic for a quick overview of glaucoma,  including how many people it affects, whos at risk, what to do if you have it, and how to learn more.  See a glossary of glaucoma terms.
Question: What are the symptoms of Ulna and fibula, hypoplasia of ?

Answer: What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. 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 fibula 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Ulnar deviation of finger 90% Synostosis of carpal bones 50% Myopia 7.5% Strabismus 7.5% Autosomal dominant inheritance - Fibular hypoplasia - Hypoplasia of the ulna - Neonatal short-limb 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.
Question: What are the symptoms of X-linked dominant scapuloperoneal myopathy ?

Answer: What are the signs and symptoms of X-linked dominant scapuloperoneal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked dominant scapuloperoneal myopathy. 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) Adult onset - Arrhythmia - Autosomal dominant inheritance - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Flexion contracture - Foot dorsiflexor weakness - Hyporeflexia - Lower limb muscle weakness - Myofibrillar myopathy - Scapular winging - Scapuloperoneal myopathy - Skeletal muscle atrophy - Slow progression - Steppage gait - Waddling gait - Weakness of facial musculature - 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.
Question: What are the symptoms of Zori Stalker Williams syndrome ?

Answer: What are the signs and symptoms of Zori Stalker Williams syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zori Stalker Williams 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) Cognitive impairment 90% Short stature 90% Broad forehead 50% Macrocephaly 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Hypoplasia of the zygomatic bone 7.5% Hypoplastic toenails 7.5% Muscular hypotonia 7.5% Pectus excavatum 7.5% Prominent supraorbital ridges 7.5% Short nose 7.5% Autosomal dominant inheritance - Hypoplasia of midface - Malar flattening - Nail dysplasia - Prominent forehead - Relative macrocephaly - 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) inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ?

Answer: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.  The first symptom of IBMPFD is often muscle weakness (myopathy), which typically appears in mid-adulthood. Weakness first occurs in muscles of the hips and shoulders, making it difficult to climb stairs and raise the arms above the shoulders. As the disorder progresses, weakness develops in other muscles in the arms and legs. Muscle weakness can also affect respiratory and heart (cardiac) muscles, leading to life-threatening breathing difficulties and heart failure.  About half of all adults with IBMPFD develop a disorder called Paget disease of bone. This disorder most often affects bones of the hips, spine, and skull, and the long bones of the arms and legs. Bone pain, particularly in the hips and spine, is usually the major symptom of Paget disease. Rarely, this condition can weaken bones so much that they break (fracture).  In about one-third of people with IBMPFD, the disorder also affects the brain. IBMPFD is associated with a brain condition called frontotemporal dementia, which becomes noticeable in a person's forties or fifties. Frontotemporal dementia progressively damages parts of the brain that control reasoning, personality, social skills, speech, and language. People with this condition initially may have trouble speaking, remembering words and names (dysnomia), and using numbers (dyscalculia). Personality changes, a loss of judgment, and inappropriate social behavior are also hallmarks of the disease. As the dementia worsens, affected people ultimately become unable to speak, read, or care for themselves.  People with IBMPFD usually live into their fifties or sixties.
Question: What are the genetic changes related to Crohn disease ?

Answer: Crohn disease is related to chromosomes 5 and 10.  Variations of the ATG16L1, IRGM, and NOD2 genes increase the risk of developing Crohn disease.  The IL23R gene is associated with Crohn disease.  A variety of genetic and environmental factors likely play a role in causing Crohn disease. Although researchers are studying risk factors that may contribute to this complex disorder, many of these factors remain unknown. Cigarette smoking is thought to increase the risk of developing this disease, and it may also play a role in periodic flare-ups of signs and symptoms.  Studies suggest that Crohn disease may result from a combination of certain genetic variations, changes in the immune system, and the presence of bacteria in the digestive tract. Recent studies have identified variations in specific genes, including ATG16L1, IL23R, IRGM, and NOD2, that influence the risk of developing Crohn disease. These genes provide instructions for making proteins that are involved in immune system function. Variations in any of these genes may disrupt the ability of cells in the intestine to respond normally to bacteria. An abnormal immune response to bacteria in the intestinal walls may lead to chronic inflammation and the digestive problems characteristic of Crohn disease.  Researchers have also discovered genetic variations in certain regions of chromosome 5 and chromosome 10 that appear to contribute to Crohn disease risk. One area of chromosome 5, known as the IBD5 locus, contains several genetic changes that may increase the risk of developing this condition. Other regions of chromosome 5 and chromosome 10 identified in studies of Crohn disease risk are known as "gene deserts" because they include no known genes. Instead, these regions may contain stretches of DNA that regulate nearby genes. Additional research is needed to determine how genetic variations in these chromosomal regions are related to a person's chance of developing Crohn disease.
Question: What are the genetic changes related to Chediak-Higashi syndrome ?

Answer: Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes and similar cell structures. Lysosomes act as recycling centers within cells. They use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components.  Mutations in the LYST gene impair the normal function of the lysosomal trafficking regulator protein, which disrupts the size, structure, and function of lysosomes and related structures in cells throughout the body. In many cells, the lysosomes are abnormally large and interfere with normal cell functions. For example, enlarged lysosomes in certain immune system cells prevent these cells from responding appropriately to bacteria and other foreign invaders. As a result, the malfunctioning immune system cannot protect the body from infections.  In pigment cells called melanocytes, cellular structures called melanosomes (which are related to lysosomes) are abnormally large. Melanosomes produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation.  Researchers believe that abnormal lysosome-like structures inside blood cells called platelets underlie the abnormal bruising and bleeding seen in people with Chediak-Higashi syndrome. Similarly, abnormal lysosomes in nerve cells probably cause the neurological problems associated with this disease.
Question: How to diagnose Graves' Disease ?

Answer: Health care providers can sometimes diagnose Graves disease based only on a physical examination and a medical history. Blood tests and other diagnostic tests, such as the following, then confirm the diagnosis.
                
TSH test. The ultrasensitive TSH test is usually the first test performed. This test detects even tiny amounts of TSH in the blood and is the most accurate measure of thyroid activity available.
                
T3 and T4 test. Another blood test used to diagnose Graves disease measures T3 and T4 levels. In making a diagnosis, health care providers look for below-normal levels of TSH, normal to elevated levels of T4, and elevated levels of T3.
                
Because the combination of low TSH and high T3 and T4 can occur with other thyroid problems, health care providers may order other tests to finalize the diagnosis. The following two tests use small, safe doses of radioactive iodine because the thyroid uses iodine to make thyroid hormone.
                
Radioactive iodine uptake test. This test measures the amount of iodine the thyroid collects from the bloodstream. High levels of iodine uptake can indicate Graves disease.
                
Thyroid scan. This scan shows how and where iodine is distributed in the thyroid. With Graves disease the entire thyroid is involved, so the iodine shows up throughout the gland. Other causes of hyperthyroidism such as nodulessmall lumps in the glandshow a different pattern of iodine distribution.
                
TSI test. Health care providers may also recommend the TSI test, although this test usually isnt necessary to diagnose Graves disease. This test, also called a TSH antibody test, measures the level of TSI in the blood. Most people with Graves disease have this antibody, but people whose hyperthyroidism is caused by other conditions do not.
                
More information about testing for thyroid problems is provided in the NIDDK health topic, Thyroid Tests.
Question: What are the symptoms of Brachydactyly type A5 ?

Answer: What are the signs and symptoms of Brachydactyly type A5? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A5. 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 metacarpal bones 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Brachydactyly syndrome 90% Proximal placement of thumb 90% Short distal phalanx of finger 90% Short toe 90% Abnormality of thumb phalanx 7.5% Finger syndactyly 7.5% Preaxial foot polydactyly 7.5% Symphalangism affecting the phalanges of the hand 7.5% Synostosis of carpal bones 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.
Question: What are the symptoms of Osteopenia and sparse hair ?

Answer: What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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 hair quantity 90% Abnormal nasal morphology 90% Cognitive impairment 90% Frontal bossing 90% Hypertelorism 90% Increased bone mineral density 90% Macrocephaly 90% Malar flattening 90% Reduced bone mineral density 90% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Abnormality of the face - Autosomal recessive inheritance - Intellectual disability - Joint laxity - Muscular hypotonia - Osteopenia - Sparse hair - 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 Wells-Jankovic syndrome ?

Answer: What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic 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) Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Impaired pain sensation 90% Sensorineural hearing impairment 90% Abnormality of the genital system 50% Opacification of the corneal stroma 50% Short stature 50% Visual impairment 50% Incoordination 7.5% Nystagmus 7.5% Cataract - Hearing impairment - Hypogonadism - Juvenile onset - Spastic paraparesis - Tremor - 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.
Question: What are the genetic changes related to Hirschsprung disease ?

Answer: Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals.  Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease. The RET gene provides instructions for producing a protein that is involved in signaling within cells. This protein appears to be essential for the normal development of several kinds of nerve cells, including nerves in the intestine. Mutations in the RET gene that cause Hirschsprung disease result in a nonfunctional version of the RET protein that cannot transmit signals within cells. Without RET protein signaling, enteric nerves do not develop properly. Absence of these nerves leads to the intestinal problems characteristic of Hirschsprung disease.  The EDNRB gene provides instructions for making a protein called endothelin receptor type B. When this protein interacts with other proteins called endothelins, it transmits information from outside the cell to inside the cell, signaling for many important cellular processes. The EDN3 gene provides instructions for a protein called endothelin 3, one of the endothelins that interacts with endothelin receptor type B. Together, endothelin 3 and endothelin receptor type B play an important role in the normal formation of enteric nerves. Changes in either the EDNRB gene or the EDN3 gene disrupt the normal functioning of the endothelin receptor type B or the endothelin 3 protein, preventing them from transmitting signals important for the development of enteric nerves. As a result, these nerves do not form normally during embryonic development. A lack of enteric nerves prevents stool from being moved through the intestine, leading to severe constipation and intestinal blockage.