Contexts stringlengths 0 32.3k | Questions stringlengths 14 191 | Answers stringlengths 6 29k ⌀ |
|---|---|---|
What are the symptoms of Pseudoainhum ? | What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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 ... | |
What is (are) Familial hemiplegic migraine type 1 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... | |
What are the symptoms of Familial hemiplegic migraine type 1 ? | What are the signs and symptoms of Familial hemiplegic migraine type 1? The symptoms and severity can vary considerably among people with hemiplegic migraine. Signs and symptoms associated with aura may include: Visual disturbance (e.g. blind spots, flashing lights, zigzag pattern, and double vision) Sensory loss (e.g.... | |
What are the treatments for Familial hemiplegic migraine type 1 ? | How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic ... | |
What are the symptoms of Lipodystrophy, familial partial, type 2 ? | What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Cataract, total congenital ? | What are the signs and symptoms of Cataract, total congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, total congenital. 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... | |
What is (are) Frank Ter Haar syndrome ? | Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less ... | |
What are the symptoms of Frank Ter Haar syndrome ? | What are the signs and symptoms of Frank Ter Haar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frank Ter Haar 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 Medic... | |
What are the symptoms of Otodental dysplasia ? | What are the signs and symptoms of Otodental dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Otodental 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 Dicti... | |
What are the symptoms of Congenital alopecia X-linked ? | What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia 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 Medline... | |
What are the symptoms of Gastrocutaneous syndrome ? | What are the signs and symptoms of Gastrocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastrocutaneous 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 Med... | |
What are the symptoms of Sarcosinemia ? | What are the signs and symptoms of Sarcosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Sarcosinemia. 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 ... | |
What is (are) Hidradenocarcinoma ? | Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40).... | |
What are the treatments for Hidradenocarcinoma ? | How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. Surgery is often the f... | |
What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of ... | |
What are the symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency ? | What are the signs and symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methylbutyryl-CoA dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Infectious arthritis ? | Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, ... | |
What are the symptoms of Martinez Monasterio Pinheiro syndrome ? | What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Liddle syndrome ? | Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium l... | |
What are the symptoms of Liddle syndrome ? | What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. Individuals typically present with hyp... | |
What causes Liddle syndrome ? | What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a diffe... | |
Is Liddle syndrome inherited ? | How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an aff... | |
How to diagnose Liddle syndrome ? | How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium level... | |
What are the treatments for Liddle syndrome ? | How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. With treatme... | |
What are the symptoms of Scalp ear nipple syndrome ? | What are the signs and symptoms of Scalp ear nipple syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Scalp ear nipple 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 M... | |
What is (are) VIPoma ? | VIPoma is a rare cancer that develops within the pancreas. This tumor causes pancreatic cells to produce high levels of a hormone called vasoactive intestinal peptide (VIP). The signs and symptoms of a VIPoma include abdominal pain, flushing or redness of the face, nausea, watery diarrhea, weight loss, dehydration, and... | |
What are the treatments for VIPoma ? | How might VIPoma be treated? Treatment for VIPoma may include intravenous (IV) fluids to correct dehydration, medications such as octreotide to help control diarrhea, and surgery to remove the tumor. If the tumor has spread (metastasized) to the liver or other tissues, treatment may involve chemotherapy, radiofrequency... | |
What is (are) Precocious puberty ? | Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious pu... | |
What are the symptoms of Precocious puberty ? | What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. 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 Diction... | |
What are the treatments for Precocious puberty ? | What are the long term effects of treatment for precocious puberty? Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height le... | |
What are the symptoms of Dennis Fairhurst Moore syndrome ? | What are the signs and symptoms of Dennis Fairhurst Moore syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dennis Fairhurst Moore 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 M... | |
What are the symptoms of Alopecia-intellectual disability syndrome ? | What are the signs and 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 conditio... | |
What is (are) Giant congenital nevus ? | A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial... | |
What are the symptoms of Giant congenital nevus ? | What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. 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... | |
What are the treatments for Giant congenital nevus ? | How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi ar... | |
What are the symptoms of Fuhrmann syndrome ? | What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann 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 Dictionar... | |
What are the symptoms of Leber congenital amaurosis 4 ? | What are the signs and symptoms of Leber congenital amaurosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 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 Medline... | |
What are the symptoms of Hyperinsulinemic hypoglycemia familial 3 ? | What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 3. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | |
What are the symptoms of Dykes Markes Harper syndrome ? | What are the signs and symptoms of Dykes Markes Harper syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper 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 Medline... | |
What is (are) Immunotactoid or fibrillary glomerulopathy ? | Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have m... | |
What is (are) Cold agglutinin disease ? | Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to... | |
What are the symptoms of Cold agglutinin disease ? | What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that no... | |
What causes Cold agglutinin disease ? | What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Vi... | |
Is Cold agglutinin disease inherited ? | Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes li... | |
How to diagnose Cold agglutinin disease ? | How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood ... | |
What are the treatments for Cold agglutinin disease ? | How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnos... | |
What are the symptoms of Ectodermal dysplasia skin fragility syndrome ? | What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Limb-girdle muscular dystrophy type 2A ? | Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused... | |
What are the symptoms of Limb-girdle muscular dystrophy type 2A ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) Episodic ataxia ? | Episodic ataxia refers to a group of related conditions that affect the nervous system and cause problems with movement. It is characterized by episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or ... | |
What are the symptoms of Dentin dysplasia, type 1 ? | What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, 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 Med... | |
What are the symptoms of Deafness-infertility syndrome ? | What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility 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 Medli... | |
What is (are) 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | 17-beta hydroxysteroid dehydrogenase 3 deficiencyis an inherited condition that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. Most people with this condition are born with external genitalia that appear female. In some cases, th... | |
What are the symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency ? | What are the signs and symptoms of 17-beta hydroxysteroid dehydrogenase 3 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 17-beta hydroxysteroid dehydrogenase 3 deficiency. If the information is available, the table below includes how often the symptom is seen in people wi... | |
What is (are) Myelodysplastic/myeloproliferative disease ? | Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature int... | |
What causes Myelodysplastic/myeloproliferative disease ? | What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic l... | |
What are the symptoms of Short stature syndrome, Brussels type ? | What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Leprechaunism ? | Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by ... | |
What are the symptoms of Leprechaunism ? | What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. 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... | |
What is (are) Bednar tumor ? | Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-color... | |
What is (are) Down syndrome ? | Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digesti... | |
What are the symptoms of Down syndrome ? | What are the signs and symptoms of Down syndrome? People with Down syndrome may develop the following medical problems: Congenital hypothyroidism Hearing loss Congenital heart defects Seizures Vision disorders Decreased muscle tone (hypotonia) Children with Down syndrome are also more likely to develop chronic respira... | |
What causes Down syndrome ? | What causes Down syndrome? There are 3 possible genetic causes of Down syndrome: Trisomy 21. Most often, Down syndrome is caused by an extra chromosome 21 in all cells of the affected person. In these cases, the chromosome 21 pair fails to separate during the formation of an egg (or sperm); this is called "nondisjunct... | |
How to diagnose Down syndrome ? | How is Down syndrome diagnosed? Down syndrome may be suspected and/or diagnosed during pregnancy, or after a child is born. During pregnancy, a woman can opt to have specific tests that may either screen for, or diagnosis, Down syndrome in a fetus. A screening test poses no risks to the fetus and can determine the like... | |
What are the treatments for Down syndrome ? | How might Down syndrome be treated? Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help people with Down syndrome develop to their full potential. The overall goal of treatment is to boost cognition by improvi... | |
What are the symptoms of Hyperlipoproteinemia type 5 ? | What are the signs and symptoms of Hyperlipoproteinemia type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 5. 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... | |
What is (are) Progressive pseudorheumatoid arthropathy of childhood ? | Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for ... | |
What are the symptoms of Progressive pseudorheumatoid arthropathy of childhood ? | What are the signs and symptoms of Progressive pseudorheumatoid arthropathy of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive pseudorheumatoid arthropathy of childhood. If the information is available, the table below includes how often the symptom is seen in p... | |
What is (are) Rh deficiency syndrome ? | The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: T... | |
What are the symptoms of Diffuse cutaneous mastocytosis ? | What are the signs and symptoms of Diffuse cutaneous mastocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous mastocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Tranebjaerg Svejgaard syndrome ? | Tranebjaerg Svejgaard syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins. The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner. Treatment is based on ... | |
What are the symptoms of Tranebjaerg Svejgaard syndrome ? | What are the signs and symptoms of Tranebjaerg Svejgaard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tranebjaerg Svejgaard 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 Med... | |
What are the symptoms of Pulmonary venous return anomaly ? | What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What is (are) Microscopic polyangiitis ? | Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this dis... | |
What are the symptoms of Microscopic polyangiitis ? | What are the signs and symptoms of Microscopic polyangiitis? The symptoms of MPA depend on which blood vessels are involved and what organs in the body are affected. The most common symptoms of MPA include kidney inflammation, weight loss, skin lesions, nerve damage, and fevers. This disorder may occur alone or with ot... | |
What causes Microscopic polyangiitis ? | What causes microscopic polyangiitis (MPA)? The cause of MPA is unknown. It is not contagious, does not usually run in families, and is not a form of cancer. The immune system is thought to play a critical role in the development of MPA. It is thought that the immune system becomes overactive and causes blood vessel a... | |
What are the treatments for Microscopic polyangiitis ? | What is the treatment for microscopic polyangiitis (MPA)? MPA is treated with medications that suppress the immune system, which can lower an individual's resistance to infections. There are a variety of immune suppressing medications that are used in MPA; however, resources state that a steroid (usually prednisone) an... | |
What is (are) Myotonic dystrophy type 1 ? | Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (presen... | |
What are the symptoms of Myotonic dystrophy type 1 ? | What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy 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 M... | |
Is Myotonic dystrophy type 1 inherited ? | How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. As myotonic dystrophy is passed from one generation t... | |
What are the treatments for Myotonic dystrophy type 1 ? | How might myotonic dystrophy type 1 associated vision problems be treated? Treatment of eye and vision problems must be individually tailored. Refractive error and astigmatism can be corrected with eyeglasses, contact lenses, or surgery. Special glasses with eye "crutches" can be used to improve vision in people with p... | |
What is (are) West syndrome ? | West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the ... | |
What are the symptoms of West syndrome ? | What are the signs and symptoms of West syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for West 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 loo... | |
What is (are) Generalized pustular psoriasis ? | Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle wea... | |
What are the symptoms of Generalized pustular psoriasis ? | What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What is (are) Epidermolysis bullosa simplex, generalized ? | Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of th... | |
What are the symptoms of Epidermolysis bullosa simplex, generalized ? | What are the signs and symptoms of Epidermolysis bullosa simplex, generalized? Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy. While not a common feature of this type of epidermolysis bullosa, scarring may occasionally occur. There may also be ... | |
What are the treatments for Epidermolysis bullosa simplex, generalized ? | How might epidermolysis bullosa simplex be treated? There is no cure for epidermolysis bullosa simplex and there is no known treatment proven to completely control all of the symptoms. However, many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have mi... | |
What is (are) Axial spondylometaphyseal dysplasia ? | Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the ches... | |
What are the symptoms of Axial spondylometaphyseal dysplasia ? | What are the signs and symptoms of Axial spondylometaphyseal dysplasia? Common signs and sympotms of axial spondylometaphyseal dysplasia, include short stature, chest, spine, limb, and pelvic bone changes, and vision disturbance. People with axial spondylometaphyseal dysplasia may have a normal birth length, but demons... | |
What are the treatments for Axial spondylometaphyseal dysplasia ? | How might axial spondylometaphyseal dysplasia be treated? Is growth hormone therapy an option? Is surgery helpful? Can the vision problems be corrected? There is no specific treatment for axial spondylometaphyseal dysplasia. Symptoms such as lung infections, breathing difficulties, coxa vara, scoliosis, retinitis pigme... | |
What are the symptoms of Chondrosarcoma ? | What are the signs and 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 l... | |
What is (are) Progressive hemifacial atrophy ? | Progressive hemifacial atrophy, or Parry-Romberg syndrome, is a condition that causes the breakdown of the skin and soft tissues of half of the face. Symptoms and severity vary from person to person. This condition tends to begin in childhood between the ages of 5 and 15 years, and worsen over the course of 2 to 10 yea... | |
What are the symptoms of Progressive hemifacial atrophy ? | What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | |
What are the treatments for Progressive hemifacial atrophy ? | How might progressive hemifacial atrophy be treated? | |
What is (are) Wernicke-Korsakoff syndrome ? | Wernicke-Korsakoff syndrome is a brain disorder due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. Wernicke's encephalopathy can result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Korsakoff's... | |
What are the symptoms of Wernicke-Korsakoff syndrome ? | What are the signs and symptoms of Wernicke-Korsakoff syndrome? The symptoms of Wernicke encephalopathy include mental confusion, vision problems (including double vision, abnormal eye movements, and eyelid drooping), inability to think clearly, coma, hypothermia, hypotension, and loss of muscle coordination (ataxia). ... | |
What are the treatments for Wernicke-Korsakoff syndrome ? | How might Wernicke-Korsakoff syndrome be treated? | |
What are the symptoms of Mousa Al din Al Nassar syndrome ? | What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar 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 M... | |
What is (are) Tyrosinemia type 3 ? | Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. Thi... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.