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train_0.png | What are the symptoms of Achalasia ? | Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or as... | |
train_1.png | Is Binswanger's disease inherited ? | Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots). | |
train_2.png | What are the symptoms of Carney triad ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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... | |
train_3.png | What are the treatments for Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 ? | Management of blepharophimosis syndrome type 1 requires the input of several specialists including a clinical geneticist, pediatric ophthalmologist, eye plastic (oculoplastic) surgeon, endocrinologist, reproductive endocrinologist, and gynecologist. Eyelid surgery should be discussed with an oculoplastic surgeon to dec... | |
train_4.png | What are the symptoms of CHILD syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD 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. Sig... | |
train_5.png | What are the symptoms of Brachydactyly types B and E combined ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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 th... | |
train_6.png | What is (are) Alopecia areata ? | Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complet... | |
train_7.png | What is (are) Chronic active Epstein-Barr virus infection ? | Chronic active Epstein-Barr virus infection is a rare condition in which the body makes too many lymphocytes, a type of white blood cell. Lymphocytes are an important part of the immune system because they help fight off diseases and protect the body from infection. About 95% of adults are infected with Epstein-Barr vi... | |
train_8.png | What causes Benign schwannoma ? | The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, neurofibromatosis type 2 i... | |
train_9.png | What are the symptoms of Chiari malformation type 1 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 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 medica... | |
train_10.png | What are the symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid changes, cutis verticis gyrata and corneal leukoma. 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 loo... | |
train_11.png | What are the treatments for Agenesis of the dorsal pancreas ? | Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsa... | |
train_12.png | What is (are) Chronic hiccups ? | Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. However, chronic hiccups last over two days and in rare ... | |
train_13.png | What is (are) Chiari malformation type 2 ? | Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accomp... | |
train_14.png | What are the symptoms of C syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for C 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 a... | |
train_15.png | What are the symptoms of Ascher Syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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. Si... | |
train_16.png | What is (are) Calciphylaxis ? | Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis). The most obvious and frequ... | |
train_17.png | What is (are) Androgen insensitivity syndrome ? | Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may h... | |
train_18.png | What is (are) Chromosome 6q deletion ? | Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | |
train_19.png | What is (are) Castleman disease ? | Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multipl... | |
train_20.png | What are the treatments for Aplasia cutis congenita ? | The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin def... | |
train_21.png | What are the symptoms of Celiac artery compression syndrome ? | Classically, individuals with celiac artery compression syndrome present with a triad of abdominal pain after eating, weight loss (usually >20 pounds), and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). One review found that abdominal pain is the most common symptom, found to be present i... | |
train_22.png | What are the symptoms of Coats disease ? | The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with period... | |
train_23.png | What are the symptoms of Achondroplasia and severe combined immunodeficiency ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. 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 def... | |
train_24.png | How to diagnose Chromosome 3p- syndrome ? | There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and ... | |
train_25.png | What are the symptoms of Abdominal aortic aneurysm ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Abdominal aortic aneurysm. 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... | |
train_26.png | What are the treatments for Birdshot chorioretinopathy ? | Unfortunately, there is currently no cure for birdshot chorioretinopathy. Because this condition is rare, there are no established guidelines for treatment. Treatment is determined based on the severity of each affected individual's symptoms. Because birdshot chorioretinopathy is suspected to be an autoimmune diseas... | |
train_27.png | What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam 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 ... | |
train_28.png | What are the treatments for Chromosome 4q deletion ? | Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certai... | |
train_29.png | How to diagnose Binswanger's disease ? | A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan). | |
train_30.png | What are the symptoms of Atrial myxoma, familial ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial myxoma, familial. 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 t... | |
train_31.png | What are the symptoms of Coffin-Siris syndrome ? | The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes Missing pinky fingernails or toenails Distinctive facial ... | |
train_32.png | What are the treatments for Bell's palsy ? | Treatment for Bell's palsy primarily focuses on reducing inflammation, managing symptoms, and preventing complications to promote recovery. Common treatments include corticosteroids, antiviral medications, and eye protection. Physical therapy, facial massage, and even surgery may be considered in some cases. Most peopl... | |
train_33.png | What is (are) Book syndrome ? | Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypop... | |
train_34.png | What are the symptoms of Achard syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Achard 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. Si... | |
train_35.png | How to diagnose Achalasia ? | Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as u... | |
train_36.png | What are the symptoms of Amyotrophic lateral sclerosis ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. 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 med... | |
train_37.png | What are the symptoms of Cleidocranial dysplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial dysplasia. 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 t... | |
train_38.png | What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability 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... | |
train_39.png | Is Asperger syndrome inherited ? | Autism spectrum disorders including Asperger syndrome sometimes "run in families," but no specific inheritance pattern has been recognized. The condition is likely caused by a combination of genetic and environmental factors, which means that not all people with a genetic predisposition will be affected. A consultation... | |
train_40.png | Is Abdominal aortic aneurysm inherited ? | Abdominal aortic aneurysm (AAA) is thought to be a multifactorial condition, meaning that one or more genes likely interact with environmental factors to cause the condition. In some cases, it may occur as part of an inherited syndrome. Having a family history of AAA increases the risk of developing the condition. A ge... | |
train_41.png | What is (are) Amelogenesis imperfecta ? | Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which ... | |
train_42.png | What causes Bethlem myopathy ? | Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part of the extracellular matrix, ... | |
train_43.png | How to diagnose Charcot-Marie-Tooth disease type 2F ? | Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their... | |
train_44.png | What are the symptoms of Aplasia cutis congenita intestinal lymphangiectasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita intestinal lymphangiectasia. 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 def... | |
train_45.png | Is Adiposis dolorosa inherited ? | Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner... | |
train_46.png | What are the symptoms of Bardet-Biedl syndrome 12 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 12. 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 ... | |
train_47.png | What is (are) Acute alcohol sensitivity ? | Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in... | |
train_48.png | What are the symptoms of Acute intermittent porphyria ? | Some people who inherit the gene for AIP never develop symptoms and are said to have "latent" AIP. Those individuals that present with symptoms usually do so after puberty, probably because of hormonal influences, although other activating factors include: alcohol, drugs (e.g., barbiturates, steroids, sulfa-containing ... | |
train_49.png | What are the symptoms of Antecubital pterygium ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Antecubital pterygium. 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 ter... | |
train_50.png | What are the treatments for Acute febrile neutrophilic dermatosis ? | Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of the lesions disappearing within one to four weeks. Doctors usu... | |
train_51.png | What are the symptoms of CODAS syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS 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. Sig... | |
train_52.png | What are the symptoms of Charcot-Marie-Tooth disease type 1F ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1F. 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 the... | |
train_53.png | What causes Chromosome 3p- syndrome ? | In most people with chromosome 3p- syndrome, the deletion occurs as a new mutation (called a de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited fr... | |
train_54.png | What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variabl... | |
train_55.png | What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis 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 d... | |
train_56.png | What are the symptoms of Bietti crystalline corneoretinal dystrophy ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. 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 ... | |
train_57.png | What is (are) Chromosome 9 inversion ? | Chromosomes are the structures found in every cell of the body that contain our DNA, the instructions that tell our body what to do. Humans have 23 pairs of chromosomes, which means that each human cell contains 46 chromosomes. Each chromosome has a p and q arm; p is the short arm and q is the long arm. The p arm is al... | |
train_58.png | What is (are) Chronic fatigue syndrome ? | Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities. It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main s... | |
train_59.png | What is (are) Abetalipoproteinemia ? | Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood... | |
train_60.png | What are the symptoms of Caudal appendage deafness ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. 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... | |
train_61.png | What are the treatments for Baylisascaris infection ? | No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred by the time treatment has started. Early diagno... | |
train_62.png | What is (are) Adenocarcinoma of the appendix ? | Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tum... | |
train_63.png | What are the symptoms of Aniridia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. 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... | |
train_64.png | What is (are) Autoimmune autonomic ganglionopathy ? | Autoimmune autonomic ganglionopathy (AAG) is rare autoimmune disorder in which the body's immune system mistakenly attacks and damages certain parts of the autonomic nervous system. Signs and symptoms of the condition vary but may include severe orthostatic hypotension (low blood pressure upon standing); fainting; cons... | |
train_65.png | What are the treatments for Chordoma ? | Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tumor that may be removed, depends o... | |
train_66.png | Is Charcot-Marie-Tooth disease type 2F inherited ? | Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in t... | |
train_67.png | What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. 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 ... | |
train_68.png | What are the treatments for Bronchiolitis obliterans organizing pneumonia ? | Most cases of BOOP respond well to treatment with corticosteroids. If the condition is caused by a particular drug, stopping the drug can also improve a patient's condition. Other medications reported in the medical literature to be beneficial for individuals on a case-by-case basis include: cyclophosphamide, erythromy... | |
train_69.png | What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. 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 ... | |
train_70.png | What are the symptoms of Benign rolandic epilepsy (BRE) ? | Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child. The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner si... | |
train_71.png | What are the treatments for Adolescent idiopathic scoliosis ? | Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is ... | |
train_72.png | What are the symptoms of Chromosome 4q deletion ? | The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skele... | |
train_73.png | What are the symptoms of Androgen insensitivity syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity 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 m... | |
train_74.png | What are the symptoms of Bilateral frontoparietal polymicrogyria ? | The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle tone Finger dysmetria (difficulty controlling speed, distance and/or power of m... | |
train_75.png | How to diagnose Abetalipoproteinemia ? | Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics pro... | |
train_76.png | What causes Alport syndrome ? | Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove wa... | |
train_77.png | How to diagnose Branchiooculofacial syndrome ? | BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conductin... | |
train_78.png | What causes Acute febrile neutrophilic dermatosis ? | In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cance... | |
train_79.png | What are the symptoms of Charcot-Marie-Tooth disease type 1A ? | CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few years. Nerve conduction velocities (NCVs) tend to slow progressively over th... | |
train_80.png | What are the symptoms of Brachydactyly type A2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. 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 ter... | |
train_81.png | What causes Charcot-Marie-Tooth disease type 2F ? | Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's... | |
train_82.png | What is (are) Anaplastic astrocytoma ? | Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary... | |
train_83.png | What is (are) Antisynthetase syndrome ? | Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying caus... | |
train_84.png | What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. 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 fo... | |
train_85.png | What are the treatments for Catamenial pneumothorax ? | Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura). Ho... | |
train_86.png | What causes Autoimmune autonomic ganglionopathy ? | The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high ... | |
train_87.png | What are the symptoms of Bartter syndrome ? | The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has. The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe. The antenatal forms of Bartter syn... | |
train_88.png | What is (are) Amyopathic dermatomyositis ? | Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensi... | |
train_89.png | What is (are) Cicatricial pemphigoid ? | Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than me... | |
train_90.png | What are the symptoms of Chudley-Mccullough syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough 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 medic... | |
train_91.png | What are the symptoms of Charcot-Marie-Tooth disease type 2F ? | The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life. The most common first symptom is weakness of the feet and ankles, followed ... | |
train_92.png | What is (are) Best vitelliform macular dystrophy ? | Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia... | |
train_93.png | What is (are) Baylisascaris infection ? | Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons oft... | |
train_94.png | What is (are) Autoimmune hemolytic anemia ? | Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/o... | |
train_95.png | What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata 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 t... | |
train_96.png | What are the treatments for Chronic inflammatory demyelinating polyneuropathy ? | The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remo... | |
train_97.png | What are the symptoms of Bardet-Biedl syndrome 10 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. 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 ... | |
train_98.png | What causes Abetalipoproteinemia ? | Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting th... | |
train_99.png | What is (are) AL amyloidosis ? | AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, ... |
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