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train_300.png | What is (are) Carbamoyl phosphate synthetase 1 deficiency ? | Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complication... | |
train_301.png | What are the treatments for Alopecia universalis ? | Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most co... | |
train_302.png | What is (are) Autosomal recessive hyper IgE syndrome ? | Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndro... | |
train_303.png | What is (are) Chromosome 8p deletion ? | Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of ... | |
train_304.png | What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B2. 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_305.png | What are the symptoms of Cleft palate stapes fixation oligodontia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate stapes fixation oligodontia. 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_306.png | What are the symptoms of Cardiac valvular dysplasia, X-linked ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiac valvular dysplasia, X-linked. 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_307.png | What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type F ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type F. 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_308.png | What is (are) Clear cell renal cell carcinoma ? | Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell r... | |
train_309.png | What are the treatments for Cerebellar degeneration ? | There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy can strengthen muscles, while special devices ... | |
train_310.png | What are the symptoms of Anencephaly and spina bifida X-linked ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. 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_311.png | What is (are) Biotinidase deficiency ? | Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures... | |
train_312.png | What are the treatments for Aspergillosis ? | If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot tak... | |
train_313.png | What are the symptoms of Absent patella ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. 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_314.png | What are the symptoms of Arthrogryposis, distal, type 2E ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, type 2E. 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_315.png | What are the symptoms of Cerebral sclerosis similar to Pelizaeus-Merzbacher disease ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sclerosis similar to Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up ... | |
train_316.png | What is (are) Amyloidosis AA ? | Amyloidosis is a group of diseases in which a protein, called amyloid, builds up in the body's organs and tissues. Amyloidosis AA is also referred to as Secondary amyloidosis or Inflammatory amyloidosis. This disease is caused by a long-lasting infection or inflammatory disease such as rheumatoid arthritis, familial Me... | |
train_317.png | What are the symptoms of Alopecia-intellectual disability syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia-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 the definitions f... | |
train_318.png | What causes Coccygodynia ? | A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surrou... | |
train_319.png | What are the symptoms of Accessory navicular bone ? | Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. Symptoms may worsen with increased activity or tight shoes. The Human Phenotyp... | |
train_320.png | What are the treatments for Autoimmune atrophic gastritis ? | The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and m... | |
train_321.png | What are the symptoms of Camptobrachydactyly ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Camptobrachydactyly. 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... | |
train_322.png | What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP 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 de... | |
train_323.png | What are the symptoms of Ataxia telangiectasia ? | Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and han... | |
train_324.png | What are the symptoms of Bardet-Biedl syndrome 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 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 t... | |
train_325.png | What are the symptoms of Bladder cancer ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. 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_326.png | What causes Chilaiditi syndrome ? | The exact cause of Chilaiditi syndrome is unknown. The condition appears to occur with higher frequency among individuals with chronic lung disease, scarring of the liver (cirrhosis), and in those with an accumulation of ascites in the abdomen. Other risk factors may include reduced liver volume, paralysis of the motor... | |
train_327.png | What are the symptoms of Ambras syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ambras 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_328.png | How to diagnose Bronchiolitis obliterans organizing pneumonia ? | BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis. | |
train_329.png | What are the symptoms of ADCY5-related dyskinesia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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_330.png | What is (are) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ? | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 (BPES II) is a condition that mainly affects the development of the eyelids. People with this condition have a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and an upward fold of the skin of the lower eyelid near the inner cor... | |
train_331.png | What are the symptoms of Acromegaly ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaly. 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_332.png | How to diagnose Brody myopathy ? | Brody disease is suspected in people with the characteristic symptoms of this disorder (e.g., peudomyotonia, myoglobinuria etc...). In addition, people with this disease may have normal or slightly elevated creatine kinase levels. Click here to learn more about creatine kinase testing. A careful evaluation of muscle ti... | |
train_333.png | What are the symptoms of Anophthalmos with limb anomalies ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. 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 ... | |
train_334.png | What are the symptoms of Cholestasis, progressive familial intrahepatic 4 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cholestasis, progressive familial intrahepatic 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the defini... | |
train_335.png | What are the symptoms of Bardet-Biedl syndrome 7 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 7. 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_336.png | What are the symptoms of Ainhum ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. 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 S... | |
train_337.png | What are the symptoms of ACTH-independent macronodular adrenal hyperplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for ACTH-independent macronodular adrenal hyperplasia. 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 defin... | |
train_338.png | What are the treatments for Catecholaminergic polymorphic ventricular tachycardia ? | It has been recommended that all people clinically diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) receive treatment. Some individuals who have never had or demonstrated symptoms of CPVT, for example asymptomatic family members with CASQ2 gene mutations, may still benefit from treatment. We ... | |
train_339.png | How to diagnose Barrett esophagus ? | Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, ... | |
train_340.png | What are the symptoms of Alpha-thalassemia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. 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. ... | |
train_341.png | What are the symptoms of Ankylosing spondylitis ? | Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mi... | |
train_342.png | What are the symptoms of Amyotrophic lateral sclerosis type 6 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for th... | |
train_343.png | What are the symptoms of Benign paroxysmal positional vertigo ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. 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_344.png | Is Adolescent idiopathic scoliosis inherited ? | Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. We do know, however, that... | |
train_345.png | Is Chronic progressive external ophthalmoplegia inherited ? | Chronic progressive external ophthalmoplegia (CPEO) can be inherited, or it can occur sporadically (due to a new mutation in an individual with no history of the condition in the family). CPEO is considered a "mitochondrial disorder." This is because all the genetic mutations that can cause CPEO ultimately result in dy... | |
train_346.png | What is (are) Bethlem myopathy ? | Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy ... | |
train_347.png | What causes Chiari malformation type 1 ? | Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less... | |
train_348.png | What is (are) Brachydactyly type B ? | Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usuall... | |
train_349.png | What is (are) Adult-onset vitelliform macular dystrophy ? | Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging t... | |
train_350.png | What causes Adolescent idiopathic scoliosis ? | The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnorm... | |
train_351.png | What are the treatments for Behcet's disease ? | Although there is no cure for Behet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. The type of medicine and the length of treat... | |
train_352.png | What is (are) Carney complex ? | Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney com... | |
train_353.png | What are the symptoms of Acrocapitofemoral dysplasia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocapitofemoral 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 medic... | |
train_354.png | What are the symptoms of Chondrosarcoma ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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_355.png | What are the symptoms of Chromosome 8p23.1 deletion ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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_356.png | How to diagnose Autoimmune hepatitis ? | The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy. | |
train_357.png | What are the symptoms of Aniridia absent patella ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. 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_358.png | Is Achondroplasia inherited ? | Most cases of achondroplasia are not inherited. When it is inherited, it follows an autosomal dominant pattern of inheritance. About 80% of individuals who have achondroplasia have parents with normal stature and are born with the condition as a result of a new (de novo) gene alteration (mutation). Each individual with... | |
train_359.png | What are the symptoms of Auriculo-condylar syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar 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 medica... | |
train_360.png | What are the symptoms of Alport syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Alport 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_361.png | What is (are) Cohen syndrome ? | Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper cent... | |
train_362.png | What are the treatments for Chilaiditi syndrome ? | Treatment of Chilaiditi syndrome is directed at the individual symptoms present. In some cases, treatment is not needed. Reducing (or removing) the pressure within the abdomen may help alleviate symptoms. This may be achieved through conservative measure that address constipation, pain and distention. Surgical interven... | |
train_363.png | How to diagnose Celiac artery compression syndrome ? | A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). Abdominal imaging is used to confirm the diagnosis and... | |
train_364.png | What are the symptoms of Angioma serpiginosum, autosomal dominant ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. 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_365.png | What are the symptoms of Barrett esophagus ? | In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. However, Barrett esophagus is typically diagnosed in pe... | |
train_366.png | What causes Camurati-Engelmann disease ? | Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions... | |
train_367.png | What causes Aplasia cutis congenita ? | There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as me... | |
train_368.png | What are the symptoms of Ataxia with Oculomotor Apraxia Type 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Ataxia with Oculomotor Apraxia Type 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 t... | |
train_369.png | What are the treatments for Cleidocranial dysplasia ? | Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements of calcium and vitamin D if their bone density is below n... | |
train_370.png | What are the symptoms of Aicardi-Goutieres syndrome type 4 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these... | |
train_371.png | What are the symptoms of Adult-onset Still's disease ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medic... | |
train_372.png | What are the symptoms of Charcot-Marie-Tooth disease type 1D ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. 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_373.png | What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. 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 defini... | |
train_374.png | What causes Autoimmune atrophic gastritis ? | Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vi... | |
train_375.png | What causes Chronic hiccups ? | Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also be associated with a variety o... | |
train_376.png | What is (are) Aicardi-Goutieres syndrome type 1 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... | |
train_377.png | What is (are) Behcet's disease ? | Behcet's disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive t... | |
train_378.png | What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. 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 Dictio... | |
train_379.png | What are the symptoms of Bronchiolitis obliterans ? | Bronchiolitis obliterans is characterized by a dry cough and shortness of breath which develop 2 to 8 weeks after toxic fume exposure or a respiratory illness. Fatigue and wheezing in the absence of a cold or asthma may also be noted. While high resolution chest CT scans and pulmonary function tests may help to detect ... | |
train_380.png | What is (are) Aromatic L-amino acid decarboxylase deficiency ? | Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. The c... | |
train_381.png | What are the symptoms of Acatalasemia ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. 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_382.png | What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. 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_383.png | What is (are) Charcot-Marie-Tooth disease type 2B ? | Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers... | |
train_384.png | What is (are) Charcot-Marie-Tooth disease type 4 ? | Charcot-Marie-Tooth type 4 (CMT4) is a congenital neurologic hereditary disease, part of a group of peripheral neuropathies known as Charcot-Marie-Tooth disease (CMT). It is classified in CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, CMT4F, CMT4H and CMT4J. Each sub-type is very rare and may affect a particular ethnic gr... | |
train_385.png | What are the symptoms of Autosomal recessive spastic ataxia 4 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for th... | |
train_386.png | What are the treatments for Binswanger's disease ? | The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful management of hypertension and diabetes ca... | |
train_387.png | What are the symptoms of Brody myopathy ? | Symptoms of Brody disease typically begin in childhood. Children with this condition may have a hard time keeping up with their peers in physical activities. They have a difficult time relaxing muscles, first in their arms and legs, but then in their face and trunk. They may also have difficulty relaxing their eyelids ... | |
train_388.png | How to diagnose Achondrogenesis ? | Genetic testing can help distinguish between the different types of achondrogenesis. GeneTests lists the names of laboratories that are performing genetic testing for achondrogenesis type 1B and type 2. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their f... | |
train_389.png | Is Alopecia universalis inherited ? | Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited. | |
train_390.png | What are the symptoms of Andermann syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Andermann 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.... | |
train_391.png | What are the symptoms of Chiari malformation type 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 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 medica... | |
train_392.png | What is (are) Camptocormism ? | Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered,... | |
train_393.png | What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
train_394.png | What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. 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 definit... | |
train_395.png | What are the symptoms of Akesson syndrome ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson 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. S... | |
train_396.png | What are the symptoms of Anterior polar cataract 2 ? | The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior polar cataract 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... | |
train_397.png | Is Branchiooculofacial syndrome inherited ? | Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition. | |
train_398.png | What causes Blue rubber bleb nevus syndrome ? | Currently the cause of blue rubber bleb syndrome is not known. | |
train_399.png | What is (are) Centronuclear myopathy ? | Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause... |
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