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What are the treatments for Steatocystoma multiplex ? | How might steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected indi... | Steatocystoma multiplex |
What is (are) Tetrahydrobiopterin deficiency ? | Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs ... | Tetrahydrobiopterin deficiency |
What are the symptoms of Tetrahydrobiopterin deficiency ? | What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking an... | Tetrahydrobiopterin deficiency |
What are the symptoms of Meckel syndrome type 2 ? | What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome 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... | Meckel syndrome type 2 |
What is (are) Adenocarcinoma of the appendix ? | Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tum... | Adenocarcinoma of the appendix |
What are the symptoms of Adenocarcinoma of the appendix ? | What are the symptoms of adenocarcinoma of the appendix? The most common clinical symptom is acute appendicitis. Other symptoms include a palpable abdominal mass, ascites (fluid buildup), peritonitis (inflammation of the membrane lining the abdominal cavity) due to a perforated appendix, and non-specific gastrointestin... | Adenocarcinoma of the appendix |
How to diagnose Adenocarcinoma of the appendix ? | How might adenocarcinoma of the appendix be diagnosed? Adenocarcinoma of the appendix may be identified along with acute appendicitis. Mucinous adenocarcinomas may also be found incidentally as a right sided cystic mass on an imaging study. | Adenocarcinoma of the appendix |
What is (are) Hepatocellular carcinoma, childhood ? | Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of fac... | Hepatocellular carcinoma, childhood |
What are the symptoms of Hepatocellular carcinoma, childhood ? | What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Hepatocellular carcinoma, childhood |
What causes Hepatocellular carcinoma, childhood ? | What causes hepatocellular carcinoma, childhood? A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much grea... | Hepatocellular carcinoma, childhood |
What is (are) Macrodactyly of the hand ? | Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the ... | Macrodactyly of the hand |
What is (are) Trichotillomania ? | Trichotillomania is an impulse control disorder characterized by an overwhelming urge to repeatedly pull out one's own hair (usually on the scalp), resulting in hair loss (alopecia). The eyelashes, eyebrows, and beard can also be affected. Many affected individuals feel extreme tension when they feel an impulse, follow... | Trichotillomania |
What are the symptoms of Trichotillomania ? | What are the signs and symptoms of Trichotillomania? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichotillomania. 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 ... | Trichotillomania |
What are the treatments for Trichotillomania ? | How might trichotillomania be treated? Behavioral treatment seems to be the most powerful treatment for trichotillomania. Parental involvement is important and should include enough support so that affected children grow well intellectually, physically, and socially. Shaving or clipping hair close to the scalp may be h... | Trichotillomania |
What is (are) 11-beta-hydroxylase deficiency ? | Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the ... | 11-beta-hydroxylase deficiency |
What are the symptoms of 11-beta-hydroxylase deficiency ? | What are the signs and symptoms of 11-beta-hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 11-beta-hydroxylase 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 Med... | 11-beta-hydroxylase deficiency |
Is 11-beta-hydroxylase deficiency inherited ? | How is 11-beta-hydroxylase deficiency inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show sign... | 11-beta-hydroxylase deficiency |
How to diagnose 11-beta-hydroxylase deficiency ? | Is genetic testing available for 11-beta-hydroxylase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care ... | 11-beta-hydroxylase deficiency |
What are the symptoms of Spinocerebellar ataxia 4 ? | What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar 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 Med... | Spinocerebellar ataxia 4 |
What is (are) Primary spontaneous pneumothorax ? | Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the p... | Primary spontaneous pneumothorax |
What are the symptoms of Primary spontaneous pneumothorax ? | What are the signs and symptoms of Primary spontaneous pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary spontaneous pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Primary spontaneous pneumothorax |
What are the symptoms of Aganglionosis, total intestinal ? | What are the signs and symptoms of Aganglionosis, total intestinal? The Human Phenotype Ontology provides the following list of signs and symptoms for Aganglionosis, total intestinal. 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... | Aganglionosis, total intestinal |
What are the symptoms of Gupta Patton syndrome ? | What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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... | Gupta Patton syndrome |
What are the symptoms of Hypomagnesemia 2, renal ? | What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. 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... | Hypomagnesemia 2, renal |
What is (are) Spondylocostal dysostosis 1 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... | Spondylocostal dysostosis 1 |
What are the symptoms of Spondylocostal dysostosis 1 ? | What are the signs and symptoms of Spondylocostal dysostosis 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 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 MedlinePl... | Spondylocostal dysostosis 1 |
What is (are) Takayasu arteritis ? | Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impair... | Takayasu arteritis |
What are the symptoms of Takayasu arteritis ? | What are the signs and symptoms of Takayasu arteritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Takayasu arteritis. 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... | Takayasu arteritis |
What are the treatments for Takayasu arteritis ? | How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity ... | Takayasu arteritis |
What are the symptoms of Cataract anterior polar dominant ? | What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar 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... | Cataract anterior polar dominant |
What is (are) Hereditary elliptocytosis ? | Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessa... | Hereditary elliptocytosis |
What is (are) Chromosome 14q deletion ? | Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | Chromosome 14q deletion |
What are the symptoms of Familial hyperaldosteronism type III ? | What are the signs and symptoms of Familial hyperaldosteronism type III ? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperaldosteronism type III . If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Familial hyperaldosteronism type III |
What is (are) Florid cemento-osseous dysplasia ? | Florid cemento-osseous dysplasia is characterized by lesions in the upper and/or lower jaw that occur when normal bone is replaced with a mix of connective tissue and abnormal bone. It tends to affect middle aged women, particularly women of African American and Asian descent. The lesions often affect both sides of the... | Florid cemento-osseous dysplasia |
What are the symptoms of Florid cemento-osseous dysplasia ? | What are the signs and symptoms of Florid cemento-osseous dysplasia? Usually florid cemento-osseous dysplasia causes no signs or symptoms and is identified incidentally during a radiograph taken for some other purpose. Occasionally however, the lesions expand causing discomfort, pain, and/or mild disfigurement. The Hum... | Florid cemento-osseous dysplasia |
What causes Florid cemento-osseous dysplasia ? | What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and ... | Florid cemento-osseous dysplasia |
How to diagnose Florid cemento-osseous dysplasia ? | How is florid cemento-osseous dysplasia diagnosed? Diagnosis of cemento-osseous dysplasia relies on the radiographic findings of the lesions as well as the clinical signs and symptoms. Careful assessment and examination must be made to differentiate cemento-osseous dysplasia from other lesions with similar appearance, ... | Florid cemento-osseous dysplasia |
What are the treatments for Florid cemento-osseous dysplasia ? | How might florid cemento-osseous dysplasia be treated? In many cases florid cemento-osseous dysplasia does not require treatment, however careful follow-up may be warranted. When the condition causes discomfort, pain, or disfigurement, the treatment plan is tailored to the patient. The following article describes the t... | Florid cemento-osseous dysplasia |
What is (are) Apert syndrome ? | Apert syndrome is a disorder mainly characterized by craniosynostosis (premature fusion of skull bones, causing abnormalities in the shape of the head and face) and syndactyly (fusion or webbing or fingers and/or toes). Other signs and symptoms may include distinctive facial features (bulging and wide-set eyes; a beake... | Apert syndrome |
What are the symptoms of Apert syndrome ? | What are the signs and symptoms of Apert syndrome? Apert syndrome is characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face, effectively resulting in a cone or tower shaped skull. In addition,... | Apert syndrome |
How to diagnose Apert syndrome ? | How is Apert syndrome diagnosed? Is genetic testing needed to confirm the diagnosis? Apert syndrome and the other conditions associated with FGFR-related craniosynostosis were clinically defined long before the molecular basis of this group of disorders was discovered. Apert syndrome can be diagnosed primarily based on... | Apert syndrome |
What are the symptoms of Coxa vara, congenital ? | What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, 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 Medical D... | Coxa vara, congenital |
What is (are) Buschke Lowenstein tumor ? | Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begi... | Buschke Lowenstein tumor |
What are the symptoms of Spondyloepimetaphyseal dysplasia Shohat type ? | What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Shohat type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Shohat type. If the information is available, the table below includes how often the symptom is seen in people with this co... | Spondyloepimetaphyseal dysplasia Shohat type |
What is (are) Noonan syndrome 4 ? | 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... | Noonan syndrome 4 |
What are the symptoms of Noonan syndrome 4 ? | What are the signs and symptoms of Noonan syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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 Dictionar... | Noonan syndrome 4 |
What are the treatments for Noonan syndrome 4 ? | 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... | Noonan syndrome 4 |
What are the symptoms of PAGOD syndrome ? | What are the signs and symptoms of PAGOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PAGOD 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 l... | PAGOD syndrome |
What are the symptoms of Hepatic venoocclusive disease with immunodeficiency ? | What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. If the information is available, the table below includes how often the symptom is seen in peopl... | Hepatic venoocclusive disease with immunodeficiency |
What are the symptoms of Pheochromocytoma, childhood ? | What are the signs and symptoms of Pheochromocytoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma, childhood. 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... | Pheochromocytoma, childhood |
What are the symptoms of Charcot-Marie-Tooth disease type 2B2 ? | What are the signs and 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... | Charcot-Marie-Tooth disease type 2B2 |
What are the symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis ? | What are the signs and symptoms of Hypermanganesemia with dystonia polycythemia and cirrhosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypermanganesemia with dystonia polycythemia and cirrhosis. If the information is available, the table below includes how often the symptom is... | Hypermanganesemia with dystonia polycythemia and cirrhosis |
What is (are) Acromesomelic dysplasia ? | Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands an... | Acromesomelic dysplasia |
What are the symptoms of Acromesomelic dysplasia ? | What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively en... | Acromesomelic dysplasia |
What are the symptoms of Infantile Parkinsonism-dystonia ? | What are the signs and symptoms of Infantile Parkinsonism-dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile Parkinsonism-dystonia. 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... | Infantile Parkinsonism-dystonia |
What is (are) Pierson syndrome ? | Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neur... | Pierson syndrome |
What are the symptoms of Pierson syndrome ? | What are the signs and symptoms of Pierson syndrome? The features and severity of Pierson syndrome can vary among affected people. Affected infants are usually born with serious and progressive kidney disease due to congenital nephrotic syndrome, although some do not have kidney failure until adulthood. Most require a ... | Pierson syndrome |
Is Pierson syndrome inherited ? | How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Ca... | Pierson syndrome |
How to diagnose Pierson syndrome ? | Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should c... | Pierson syndrome |
What is (are) Empty sella syndrome ? | Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turci... | Empty sella syndrome |
What are the symptoms of Empty sella syndrome ? | What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella 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 Dic... | Empty sella syndrome |
Is Empty sella syndrome inherited ? | Is empty sella syndrome inherited? Empty sella syndrome (ESS) is typically not inherited. We are aware of one report of familial ESS, occurring in a father and two children. Some researchers believe that a defect present at birth may play a role in the development of the condition, but are unsure whether the defect dir... | Empty sella syndrome |
What is (are) Achondroplasia and severe combined immunodeficiency ? | Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the ... | Achondroplasia and severe combined immunodeficiency |
What are the symptoms of Achondroplasia and severe combined immunodeficiency ? | What are the signs and symptoms of Achondroplasia and severe combined immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and severe combined immunodeficiency. If the information is available, the table below includes how often the symptom is seen in peopl... | Achondroplasia and severe combined immunodeficiency |
What is (are) Gardner-Diamond syndrome ? | Gardner-Diamond syndrome (GDS) is a rare condition characterized by episodes of unexplained, painful bruising that mostly occurs on the arms, legs, and/or face. It is most common in Caucasian women who have mental illness or emotional stress. Symptoms typically include the formation of multiple, small, purple bruises t... | Gardner-Diamond syndrome |
What are the symptoms of Gardner-Diamond syndrome ? | What are the signs and symptoms of Gardner-Diamond syndrome? People with Gardner-Diamond syndrome have reported that bruises occur either spontaneously or after trauma or surgery (even at other sites of the body). Some people are able to pinpoint exactly when the bruising occurred, while others are not. Episodes of bru... | Gardner-Diamond syndrome |
What causes Gardner-Diamond syndrome ? | What causes Gardner-Diamond syndrome? The underlying cause of Gardner-Diamond syndrome (GDS) is poorly understood and has not been identified. Experts have proposed several possible explanations including: response to stress - stress, or distress, is associated with increased levels of glucocorticoids and catecholamine... | Gardner-Diamond syndrome |
How to diagnose Gardner-Diamond syndrome ? | How is Gardner-Diamond syndrome diagnosed? There are no specific laboratory tests that can confirm the diagnosis of Gardner-Diamond syndrome (GDS), but various tests may be used to rule out other conditions. The diagnosis may be considered based on the presence of symptoms, when all other causes of bleeding have been r... | Gardner-Diamond syndrome |
What are the treatments for Gardner-Diamond syndrome ? | How might Gardner-Diamond syndrome be treated? There is no specific treatment for Gardner-Diamond syndrome (GDS). It has been suggested that psychiatric treatment (including psychotherapy) is the only reasonable therapeutic option. In some people, psychiatric medications for mental illness have helped to improve the sy... | Gardner-Diamond syndrome |
What is (are) Achondrogenesis type 2 ? | Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications. There are at least three forms of achondr... | Achondrogenesis type 2 |
What are the symptoms of Achondrogenesis type 2 ? | What are the signs and symptoms of Achondrogenesis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis 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... | Achondrogenesis type 2 |
What is (are) Pearson syndrome ? | Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kea... | Pearson syndrome |
What are the symptoms of Pearson syndrome ? | What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson 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 ... | Pearson syndrome |
What is (are) Multiple pterygium syndrome Escobar type ? | Multiple pterygium syndrome, Escobar type is characterized by webbing of the neck, elbows, and/or knees, and joint contractures. Symptoms of Escobar syndrome are present from birth. It can be caused by mutations in the CHRNG gene. It tends to be inherited in an autosomal recessive fashion. | Multiple pterygium syndrome Escobar type |
What are the symptoms of Multiple pterygium syndrome Escobar type ? | What are the signs and symptoms of Multiple pterygium syndrome Escobar type? Symptoms of multiple pterygium syndrome, Escobar type vary but may include short stature, vertebral (spine) defects, joint contractures, and webbing of the neck, armpit, elbow, knee, between the legs, and of the fingers and toes. The joint con... | Multiple pterygium syndrome Escobar type |
What causes Multiple pterygium syndrome Escobar type ? | What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined... | Multiple pterygium syndrome Escobar type |
How to diagnose Multiple pterygium syndrome Escobar type ? | How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle fa... | Multiple pterygium syndrome Escobar type |
What are the treatments for Multiple pterygium syndrome Escobar type ? | How is multiple pterygium syndrome, Escobar type treated? There is currently no cure for multiple pterygium syndrome, Escobar type. As a result treatment is aimed at managing the associated symptoms. Orthopedics should be involved for issues arising from scoliosis. Infections should be treated promptly. Contracture rel... | Multiple pterygium syndrome Escobar type |
What is (are) Tetrasomy X ? | Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include m... | Tetrasomy X |
What are the symptoms of Tetrasomy X ? | What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. 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... | Tetrasomy X |
What causes Tetrasomy X ? | What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mo... | Tetrasomy X |
What are the symptoms of Pancreatic cancer, childhood ? | What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. 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... | Pancreatic cancer, childhood |
What are the symptoms of Radio renal syndrome ? | What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio 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 MedlinePlus Medical Dic... | Radio renal syndrome |
What is (are) Madelung disease ? | Madelung disease is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affe... | Madelung disease |
What are the symptoms of Madelung disease ? | What are the signs and symptoms of Madelung disease? The signs and symptoms of Madelung disease vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some affected people, these fatty deposits may grow r... | Madelung disease |
What causes Madelung disease ? | What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells coul... | Madelung disease |
Is Madelung disease inherited ? | Is Madelung disease inherited? Although the exact cause of Madelung disease is unknown, most cases are not thought to be inherited. However, more than one family member can occasionally be affected by this condition which suggests that it may be inherited in rare cases. In the majority of these families, the mode of in... | Madelung disease |
How to diagnose Madelung disease ? | How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of ... | Madelung disease |
What are the treatments for Madelung disease ? | How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically eas... | Madelung disease |
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... | Bangstad syndrome |
What is (are) Fetal hydantoin syndrome ? | Fetal hydantoin syndrome is a disorder that is caused by exposure of a fetus to phenytoin, a drug commonly prescribed for epilepsy. Not all infants exposed to phenytoin will be affected with the disorder. Symptoms in affected individuals may include abnormalities of the skull and facial features, growth deficiencies, u... | Fetal hydantoin syndrome |
What are the symptoms of Fetal hydantoin syndrome ? | What are the signs and symptoms of Fetal hydantoin syndrome? There is a wide range in the nature and severity of characteristics associated with fetal hydantoin syndrome. Of infants born to women who used phenytoin during pregnancy, 10-30% are reported to show some of the characteristics associated with this syndrome. ... | Fetal hydantoin syndrome |
What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ? | What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this co... | Hereditary hemorrhagic telangiectasia type 4 |
What are the symptoms of Radio-ulnar synostosis type 2 ? | What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis 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 Medli... | Radio-ulnar synostosis type 2 |
What are the symptoms of Microcephaly deafness syndrome ? | What are the signs and symptoms of Microcephaly deafness syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly deafness 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... | Microcephaly deafness syndrome |
What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ? | BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing con... | BRCA1 hereditary breast and ovarian cancer syndrome |
What are the symptoms of BRCA1 hereditary breast and ovarian cancer syndrome ? | What are the signs and symptoms of BRCA1 hereditary breast and ovarian cancer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BRCA1 hereditary breast and ovarian cancer syndrome. If the information is available, the table below includes how often the symptom is seen in peopl... | BRCA1 hereditary breast and ovarian cancer syndrome |
What is (are) Logopenic progressive aphasia ? | Logopenic progressive aphasia (LPA) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). It is a type of primary progressive aphasia (PPA). Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or num... | Logopenic progressive aphasia |
What are the treatments for Logopenic progressive aphasia ? | How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown ... | Logopenic progressive aphasia |
What are the symptoms of Baraitser-Winter syndrome ? | What are the signs and symptoms of Baraitser-Winter syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser-Winter 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... | Baraitser-Winter syndrome |
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