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What are the symptoms of Burn-Mckeown syndrome ? | What are the signs and symptoms of Burn-Mckeown syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Burn-Mckeown 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 D... | |
What are the symptoms of Say-Field-Coldwell syndrome ? | What are the signs and symptoms of Say-Field-Coldwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Say-Field-Coldwell 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 MedlinePl... | |
What are the symptoms of Cerebral gigantism jaw cysts ? | What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. 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 Coloboma, cleft lip/palate and mental retardation syndrome ? | What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation syndrome. If the information is available, the table below includes how often the symptom is... | |
What is (are) Blue cone monochromatism ? | Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decrease... | |
What are the symptoms of Blue cone monochromatism ? | What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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 is (are) Hereditary lymphedema type II ? | Hereditary lymphedema type II is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the... | |
What are the symptoms of Hereditary lymphedema type II ? | What are the signs and symptoms of Hereditary lymphedema type II? Hereditary lymphedema type II is characterized by the abnormal transport of lymph fluid. This causes the lymph fluid to build up, causing swelling (lymphedema). Individuals with hereditary lymphedema type II usually develop swelling in the lower legs and... | |
What causes Hereditary lymphedema type II ? | What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with th... | |
Is Hereditary lymphedema type II inherited ? | How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected fa... | |
What is (are) Goldenhar disease ? | Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenha... | |
What are the symptoms of Goldenhar disease ? | What are the signs and symptoms of Goldenhar disease? The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spina... | |
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 ... | |
What are the symptoms of Corneal dystrophy and perceptive deafness ? | What are the signs and symptoms of Corneal dystrophy and perceptive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy and perceptive deafness. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Aicardi-Goutieres syndrome type 4 ? | 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... | |
What are the symptoms of Aicardi-Goutieres syndrome type 4 ? | What are the signs and 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 t... | |
What are the symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ? | What are the signs and symptoms of Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. If the information is available, t... | |
What is (are) Anencephaly ? | Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic... | |
What are the symptoms of Anencephaly ? | What are the signs and symptoms of Anencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly. 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... | |
What causes Anencephaly ? | What causes anencephaly? The underlying cause of anencephaly is not fully understood. Like other forms of neural tube defects (NTDs), anencephaly is likely caused by the interaction of multiple genes and environmental factors, many of which remain unknown. Variations in many genes may influence the risk of developing a... | |
Is Anencephaly inherited ? | Is anencephaly inherited? Most cases of anencephaly are sporadic, which means they occur in people with no family history of anencephaly or other neural tube defects (NTDs). In some cases, it may be associated with a chromosome abnormality, a severe malformation syndrome, or disruption of the amniotic membrane. A small... | |
What is (are) Urachal cancer ? | Urachal cancer is a rare type of bladder cancer, making up less than 1% of all bladder cancers. Only about 350 cases have been described in the medical literature to date. The urachus is a primitive structure which before birth connected the bellybutton and the bladder. This connection normally disappears before birth,... | |
What are the treatments for Urachal cancer ? | How might urachal cancer be treated? Surgical resection in the form of partial (segmental) or radical cystoprostatectomy is the main form of treatment. However, similar results are seen with a conservative surgery that involves partial cystectomy with umbilicotomy and removal of the urachus. The role of chemotherapy an... | |
What are the symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type ? | What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius type. If the information is available, the table below includes how often the symptom is seen ... | |
What is (are) Phacomatosis pigmentovascularis ? | Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. A variety of classification systems have been proposed for PPV, largely depending on what type of pi... | |
What are the symptoms of Phacomatosis pigmentovascularis ? | What are the signs and symptoms of phacomatosis pigmentovascularis? Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. Exa... | |
What causes Phacomatosis pigmentovascularis ? | What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the major... | |
How to diagnose Phacomatosis pigmentovascularis ? | How might phacomatosis pigmentovascularis be diagnosed? Diagnosis of phacomatosis pigmentovascularis is based primarily on physical evaluation and appearence of the skin lesions. | |
What are the treatments for Phacomatosis pigmentovascularis ? | How might phacomatosis pigmentovascularis be treated? If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-s... | |
What are the symptoms of Isolated ACTH deficiency ? | What are the signs and symptoms of Isolated ACTH deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ACTH deficiency. 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 Mental retardation X-linked syndromic 7 ? | What are the signs and symptoms of Mental retardation X-linked syndromic 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 7. 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 Annular pancreas ? | What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. 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 ... | |
What are the symptoms of Pitt-Hopkins-like syndrome ? | What are the signs and symptoms of Pitt-Hopkins-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pitt-Hopkins-like 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... | |
What are the symptoms of Bangstad syndrome ? | What are the signs and symptoms of Bangstad syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bangstad 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 is (are) TARP syndrome ? | TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of... | |
What are the symptoms of TARP syndrome ? | What are the signs and symptoms of TARP syndrome? TARP is an acronym for the 4 main features that were present in individuals originally diagnosed with TARP syndrome: Talipes equinovarus (clubfoot) Atrial septal defect (ASD) - a heart defect at birth characterized by failure of an opening of the upper heart chambers to... | |
What causes TARP syndrome ? | What causes TARP syndrome? TARP syndrome is a genetic condition caused by mutations in the RBM10 gene, which is located on the X chromosome. There is little information available about how mutations in this gene specifically cause TARP syndrome. However, in 2010 researchers showed that the RBM10 gene is expressed in mo... | |
Is TARP syndrome inherited ? | How is TARP syndrome inherited? TARP syndrome is inherited in an X-linked recessive manner. This means that the mutated gene responsible for TARP syndrome (RBM10) is located on the X chromosome, and typically only affects males. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. If ... | |
How to diagnose TARP syndrome ? | Is genetic testing available for TARP syndrome? Yes, genetic testing (including carrier testing) is available for TARP syndrome. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. On the GTR Web site, click on the title "Test for TARP syndrome" to find ... | |
What are the symptoms of Leigh syndrome, French Canadian type ? | What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What are the symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity ? | What are the signs and symptoms of Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and o... | |
What are the symptoms of Vocal cord dysfunction familial ? | What are the signs and symptoms of Vocal cord dysfunction familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Vocal cord dysfunction 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 M... | |
What is (are) Thrombotic thrombocytopenic purpura, congenital ? | Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. ... | |
What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ? | What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Tietze syndrome ? | Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the... | |
What are the symptoms of Tietze syndrome ? | What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, ... | |
What causes Tietze syndrome ? | What causes Tietze syndrome? The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the anterior chest wall may contribute to the development of the condition. | |
Is Tietze syndrome inherited ? | Is Tietze syndrome inherited? Tietze syndrome is not thought to be inherited. Most cases occur sporadically in people with no family history of the condition. | |
How to diagnose Tietze syndrome ? | How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A th... | |
What are the treatments for Tietze syndrome ? | How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receivin... | |
What is (are) Progeria ? | Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face ... | |
What are the symptoms of Progeria ? | What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. 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... | |
What causes Progeria ? | What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential sc... | |
What are the treatments for Progeria ? | How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot ... | |
What are the symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures ? | What are the signs and symptoms of Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures. If the information... | |
What are the symptoms of Larynx, congenital partial atresia of ? | What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of Griscelli syndrome ? | What are the signs and symptoms of Griscelli syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli 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 Diction... | |
What is (are) Adenylosuccinase deficiency ? | Adenylosuccinase deficiency is a rare, inherited metabolic condition that results from a lack of the enzyme adenylosuccinate lyase. Signs and symptoms vary greatly from person to person. In general, affected individuals may have a mix of neurological symptoms, which usually includes abnormalities with cognition and mov... | |
What are the symptoms of Adenylosuccinase deficiency ? | What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition... | |
What are the treatments for Adenylosuccinase deficiency ? | How might adenylosuccinase deficiency be treated? At the current time, there are no effective therapies for the treatment of adenylosuccinase deficiency. Treatment is supportive based on the specific features. | |
What are the symptoms of Tetralogy of fallot and glaucoma ? | What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | |
What are the symptoms of Spinocerebellar ataxia 12 ? | What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 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 M... | |
What are the symptoms of Craniosynostosis, anal anomalies, and porokeratosis ? | What are the signs and symptoms of Craniosynostosis, anal anomalies, and porokeratosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis, anal anomalies, and porokeratosis. If the information is available, the table below includes how often the symptom is seen in peopl... | |
What are the symptoms of Oculo skeletal renal syndrome ? | What are the signs and symptoms of Oculo skeletal renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo skeletal renal 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) Variant Creutzfeldt-Jakob disease ? | There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and ... | |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 4 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What are the symptoms of Retinopathy pigmentary mental retardation ? | What are the signs and symptoms of Retinopathy pigmentary mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinopathy pigmentary mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | |
What is (are) Noonan syndrome 3 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... | |
What are the symptoms of Noonan syndrome 3 ? | What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. 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 treatments for Noonan syndrome 3 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... | |
What are the symptoms of Hairy elbows ? | What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. 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 are the symptoms of Femur fibula ulna syndrome ? | What are the signs and symptoms of Femur fibula ulna syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femur fibula ulna 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... | |
What is (are) Lentigo maligna melanoma ? | Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. | |
What is (are) Glioblastoma ? | Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow in... | |
What are the symptoms of Glioblastoma ? | What are the signs and symptoms of glioblastoma? Signs and symptoms of glioblastoma vary depending on the size and location of the tumor but may include: Headache Nausea and vomiting Drowsiness Changes in personality Weakness on one side of the body Memory loss Speech difficulty Changes in vision Seizures | |
What causes Glioblastoma ? | What causes glioblastoma? In most cases, the exact underlying cause of glioblastoma is unknown. In rare cases, they can occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. In these cases, affected people usually have other characteristic features of... | |
Is Glioblastoma inherited ? | Is glioblastoma inherited? Most glioblastomas are not inherited. They usually occur sporadically in people with no family history of tumors. However, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. All of these conditions are inh... | |
How to diagnose Glioblastoma ? | Is genetic testing available for glioblastoma? Genetic testing is not available for many people with glioblastoma since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to glioblast... | |
What are the treatments for Glioblastoma ? | How might glioblastoma be treated? Unfortunately, there is no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy. The best treatment options for each person depend on many factors including the size and location of the tumor; the extent to which the tumor has g... | |
What is (are) Split hand/foot malformation X-linked ? | Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, ... | |
What are the symptoms of Split hand/foot malformation X-linked ? | What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of Thyroid cancer, follicular ? | What are the signs and symptoms of Thyroid cancer, follicular? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid cancer, follicular. 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 are the symptoms of Kapur Toriello syndrome ? | What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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 is (are) Lipodermatosclerosis ? | Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is u... | |
What are the symptoms of Lipodermatosclerosis ? | What are the signs and symptoms of lipodermatosclerosis? Lipodermatosclerosis refers to changes in the skin of the lower legs. One or both legs may be involved. Signs and symptoms vary but may include: Pain Hardening and/or thickening of the skin Varicose veins Changes in skin color (redness) Small white scarred areas ... | |
What causes Lipodermatosclerosis ? | What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese. | |
How to diagnose Lipodermatosclerosis ? | How is lipodermatosclerosis diagnosed? Lipodermatosclerosis is usually diagnosed based on the presence of characteristic signs and symptoms. A skin biopsy and/or blood tests are usually not required to confirm a diagnosis but may be performed in rare cases. Ultrasound scans and/or magnetic resonance imaging (MRI) may b... | |
What are the treatments for Lipodermatosclerosis ? | How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if ove... | |
What is (are) Prothrombin thrombophilia ? | Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the ... | |
What are the symptoms of Prothrombin thrombophilia ? | What are the signs and symptoms of Prothrombin thrombophilia? The signs and symptoms of this condition depend on whether a person has inherited one or two copies of the F2 gene mutation from his or her parents. A person who inherits one gene mutation is called a heterozygote. Whereas a person that inherits two gene mut... | |
Is Prothrombin thrombophilia inherited ? | How is prothrombin thrombophilia inherited? Prothrombin thrombophilia is inherited in an autosomal dominant manner. For this condition, this means that having one mutated copy of the disease-causing gene (F2) in each cell may be sufficient to cause signs or symptoms of the condition. The mutation in the F2 gene that ca... | |
How to diagnose Prothrombin thrombophilia ? | What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for makin... | |
What are the symptoms of Chudley-Mccullough syndrome ? | What are the signs and 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 MedlinePl... | |
What is (are) Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare condition mainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar t... | |
What are the symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | What are the signs and symptoms of Nonspherocytic hemolytic anemia due to hexokinase deficiency? Hexokinase deficiency manifests itself primarily as nonspherocytic hemolytic anemia (NSHA). The signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency, a more common inherited ca... | |
What causes Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | What causes nonspherocytic hemolytic anemia due to hexokinase deficiency? Nonspherocytic hemolytic anemia due to hexokinase deficiency has been shown to be caused by mutations in the HK1 gene, which cause at least a partial deficiency of the enzyme hexokinase. This enzyme plays an important role in the chemical process... | |
Is Nonspherocytic hemolytic anemia due to hexokinase deficiency inherited ? | How is nonspherocytic hemolytic anemia due to hexokinase deficiency inherited? Nonspherocytic hemolytic anemia due to hexokinase deficiency is inherited in an autosomal recessive manner. This means that a mutation in both copies of the gene associated with the condition must be present in order to be affected. The pare... | |
What are the treatments for Nonspherocytic hemolytic anemia due to hexokinase deficiency ? | How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated? When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified. | |
What are the symptoms of Cataract, autosomal recessive congenital 2 ? | What are the signs and symptoms of Cataract, autosomal recessive congenital 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, autosomal recessive congenital 2. If the information is available, the table below includes how often the symptom is seen in people with this condit... | |
What is (are) Autoimmune hepatitis ? | Autoimmune hepatitis is a disease in which the bodys immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. Autoimmune hepatitis s... |
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