question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
|---|---|---|---|---|
What are the genetic changes related to PDGFRB-associated chronic eosinophilic leukemia ? | PDGFRB-associated chronic eosinophilic leukemia is caused by genetic rearrangements that join part of the PDGFRB gene with part of another gene. At least 20 genes have been found that fuse with the PDGFRB gene to cause PDGFRB-associated chronic eosinophilic leukemia. The most common genetic abnormality in this conditio... | [
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What are the symptoms of Mucopolysaccharidosis type IIIB ? | What are the signs and symptoms of Mucopolysaccharidosis type IIIB? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIB. 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... | [
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What are the symptoms of Frontotemporal dementia, ubiquitin-positive ? | What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. If the information is available, the table below includes how often the symptom is seen in people with this cond... | [
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Is achondroplasia inherited ? | Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene. In the remaining cases, people with ... | [
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How to diagnose Cough ? | Your doctor will diagnose the cause of your cough based on your medical history, a physical exam, and test results.
Medical History
Your doctor will likely ask questions about your cough. He or she may ask how long you've had it, whether you're coughing anything up (such as mucus, a sl... | [
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What are the treatments for prolidase deficiency ? | These resources address the diagnosis or management of prolidase deficiency: - Gene Review: Gene Review: Prolidase Deficiency - Genetic Testing Registry: Prolidase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr... | [
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What are the genetic changes related to hereditary sensory and autonomic neuropathy type II ? | There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the FAM134B gene. Although two different genes are involved, the signs and symptoms of HSAN2A and HSAN2B are the same. The WNK1 gene... | [
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What is (are) congenital dyserythropoietic anemia ? | Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the ... | [
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What are the stages of Childhood Rhabdomyosarcoma ? | Key Points
- After childhood rhabdomyosarcoma has been diagnosed, treatment is based in part on the stage of the cancer and sometimes it is based on whether all the cancer was removed by surgery. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began t... | [
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What are the genetic changes related to Aicardi syndrome ? | The cause of Aicardi syndrome is unknown. Because it occurs almost exclusively in females, researchers believe that it is probably the result of a mutation in a gene on the X chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because the... | [
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Is prolidase 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 signs and symptoms of the condition. | [
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What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? | T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and... | [
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What are the symptoms of Cobb syndrome ? | What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb 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... | [
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What is (are) Behr syndrome ? | Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Auto... | [
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What are the symptoms of Paget's Disease of Bone ? | Pain may be a symptom, especially among people with more advanced Paget's disease. Affected bones also can become enlarged, misshapen, and more fragile and likely to break. Misshapen bones tend to be most noticeable in the legs, skull, and spine. | [
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What are the treatments for Chondrocalcinosis 2 ? | How might chondrocalcinosis 2 be treated? There is currently no cure for chondrocalcinosis 2. Unfortunately, the accumulation of calcium pyrophosphate dihydrate crystals can not be prevented and once present, these crystals can not be removed from affected joints. Therapies are available to manage the signs and symptom... | [
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What is (are) Crohn disease ? | Crohn disease is a complex, chronic disorder that primarily affects the digestive system. This condition typically involves abnormal inflammation of the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). Inflammation can occur in any part... | [
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What are the treatments for Gum (Periodontal) Disease ? | In deep cleaning, the dentist, periodontist, or dental hygienist removes the plaque through a method called scaling and root planing. Scaling means scraping off the tartar from above and below the gum line. Root planing gets rid of rough spots on the tooth root where the germs gather, and helps remove bacteria that con... | [
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What is (are) Plasmablastic lymphoma ? | Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; ... | [
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What are the treatments for primary ciliary dyskinesia ? | These resources address the diagnosis or management of primary ciliary dyskinesia: - Gene Review: Gene Review: Primary Ciliary Dyskinesia - Genetic Testing Registry: Ciliary dyskinesia, primary, 17 - Genetic Testing Registry: Kartagener syndrome - Genetic Testing Registry: Primary ciliary dyskinesia These resourc... | [
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Is lactose intolerance inherited ? | The type of lactose intolerance that occurs in infants (congenital lactase deficiency) is inherited in an autosomal recessive pattern, which means both copies of the LCT 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... | [
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What is (are) Mood Disorders ? | Most people feel sad or irritable from time to time. They may say they're in a bad mood. A mood disorder is different. It affects a person's everyday emotional state. Nearly one in ten people aged 18 and older have mood disorders. These include depression and bipolar disorder (also called manic depression). Mood dis... | [
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What is (are) Sleep Apnea ? | Espaol
Sleep apnea (AP-ne-ah) is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep.
Breathing pauses can last from a few seconds to minutes. They may occur 30times or more an hour. Typically, normal breathing then starts again, somet... | [
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What is (are) Paresthesia ? | Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. Most people have experienced ... | [
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What is (are) Crouzonodermoskeletal syndrome ? | Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans. The signs and symptoms of Crouzonodermoskeletal syndrome overlap with those of a similar condition called Crouzon syn... | [
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What is (are) Gallstones ? | Gallstones are hard particles that develop in the gallbladder. The gallbladder is a small, pear-shaped organ located in the upper right abdomenthe area between the chest and hipsbelow the liver.
Gallstones can range in size from a grain of sand to a golf ball. The gallbladder can develop a single large... | [
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What is (are) Erythema nodosum, idiopathic ? | Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the l... | [
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What is the outlook for Arteriovenous Malformation ? | The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully ... | [
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What is (are) Hearing Loss ? | Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. This type of hearin... | [
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What is (are) Chronic Pain ? | Pain is a feeling set off in the nervous system. Acute pain lets you know that you may be injured or have a problem you need to take care of. Chronic pain is different. The pain signals go on for weeks, months, or even years. The original cause may have been an injury or infection. There may be an ongoing cause of pain... | [
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What are the symptoms of Periventricular heterotopia ? | What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, ... | [
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What causes Schnitzler syndrome ? | What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are pr... | [
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what research (or clinical trials) is being done for Parkinson's Disease ? | Genetics is one of the most exciting areas of Parkinson's disease research. Studying the genes responsible for inherited cases can help researchers understand both inherited and sporadic cases of the disease. Sporadic means the disease occurs randomly and does not seem to run in families. Identifying gene defects can a... | [
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How many people are affected by Fanconi anemia ? | Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans. | [
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How to diagnose Heart Murmur ? | Doctors use a stethoscope to listen to heart sounds and hear heart murmurs. They may detect heart murmurs during routine checkups or while checking for another condition.
If a congenital heart defect causes a murmur, it's often heard at birth or during infancy. Abnormal heart murmurs caused by other he... | [
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How many people are affected by hypohidrotic ectodermal dysplasia ? | Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide. | [
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What are the symptoms of Oculomaxillofacial dysostosis ? | What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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... | [
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What is (are) Osteopetrosis autosomal recessive 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | [
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What are the genetic changes related to pulmonary veno-occlusive disease ? | The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs. The protein produced from the EIF2AK4 gene helps cells respon... | [
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What are the symptoms of Familial erythrocytosis, 1 ? | What are the signs and symptoms of Familial erythrocytosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythrocytosis, 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... | [
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What is (are) Lesch Nyhan syndrome ? | Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous s... | [
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What is (are) Meningococcal Infections ? | Meningococci are a type of bacteria that cause serious infections. The most common infection is meningitis, which is an inflammation of the thin tissue that surrounds the brain and spinal cord. Meningococci can also cause other problems, including a serious bloodstream infection called sepsis. Meningococcal infectio... | [
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What is (are) Alopecia universalis ? | Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's i... | [
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What causes Hypoglycemia ? | Diabetes Medications
Hypoglycemia can occur as a side effect of some diabetes medications, including insulin and oral diabetes medicationspillsthat increase insulin production, such as
- chlorpropamide (Diabinese) - glimepiride (Amaryl) - glipizide (Glucotrol, Glucotrol XL) - glybur... | [
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What are the symptoms of IBIDS syndrome ? | What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, shor... | [
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What are the treatments for Fitz-Hugh-Curtis syndrome ? | How might Fitz-Hugh-Curtis syndrome be treated? Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is... | [
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What is (are) Hemolytic uremic syndrome ? | Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this... | [
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What are the treatments for Narcolepsy ? | There is no cure for narcolepsy. In 1999, after successful clinical trial results, the U.S. Food and Drug Administration (FDA) approved a drug called modafinil for the treatment of EDS. Two classes of antidepressant drugs have proved effective in controlling cataplexy in many patients: tricyclics (including imipramine,... | [
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What are the treatments for Adult Central Nervous System Tumors ? | Key Points
- There are different types of treatment for patients with adult brain and spinal cord tumors. - Five types of standard treatment are used: - Active surveillance - Surgery - Radiation therapy - Chemotherapy - Targeted therapy - Supportive care is given ... | [
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What is (are) Congenital primary aphakia ? | Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This co... | [
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Do you have information about Fluid and Electrolyte Balance | Summary : Electrolytes are minerals in your body that have an electric charge. They are in your blood, urine and body fluids. Maintaining the right balance of electrolytes helps your body's blood chemistry, muscle action and other processes. Sodium, calcium, potassium, chlorine, phosphate and magnesium are all electrol... | [
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What are the treatments for ichthyosis with confetti ? | These resources address the diagnosis or management of ichthyosis with confetti: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Foundation for Ichthyosis and Related Skin Types (FIRST): Treating Ichthyosis These resources from MedlinePlus offer information about the diagnosis and manag... | [
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What are the symptoms of Angina ? | Pain and discomfort are the main symptoms of angina. Angina often is described as pressure, squeezing, burning, or tightness in the chest. The pain or discomfort usually starts behind the breastbone.
Pain from angina also can occur in the arms, shoulders, neck, jaw, throat, or back. The pain may feel l... | [
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What is (are) Ankylosing Spondylitis ? | Ankylosing spondylitis is a type of arthritis of the spine. It causes inflammation between your vertebrae, which are the bones that make up your spine, and in the joints between your spine and pelvis. In some people, it can affect other joints. AS is more common and more severe in men. It often runs in families. The... | [
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What is the outlook for Congenital Myasthenia ? | The prognosis depends on the specific subtype of congenital myasthenia, the muscles involved, and the age at onset of symptoms. If a child has difficulty breathing, feeding, or swallowing, they may be vulnerable to pneumonia or respiratory failure. In other cases, weakness is stable and does not worsen over time. In on... | [
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What are the treatments for Pulmonary arterial hypertension ? | How might pulmonary arterial hypertension be treated? People with pulmonary arterial hypertension (PAH) benefit from receiving treatment at specialized centers. The Pulmonary Hypertension Association offers a Find a Doctor tool which may aid you in locating your nearest center. Treatment of serious or life threatening ... | [
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What are the treatments for Camurati-Engelmann disease ? | These resources address the diagnosis or management of Camurati-Engelmann disease: - Gene Review: Gene Review: Camurati-Engelmann Disease - Genetic Testing Registry: Diaphyseal dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic... | [
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What are the treatments for multiple lentigines syndrome ? | These resources address the diagnosis or management of multiple lentigines syndrome: - Cincinnati Children's Hospital: Cardiomyopathies - Gene Review: Gene Review: Noonan Syndrome with Multiple Lentigines - Genetic Testing Registry: LEOPARD syndrome 1 - Genetic Testing Registry: LEOPARD syndrome 2 - Genetic Testin... | [
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What is (are) Nephrotic Syndrome in Adults ? | Nephrotic syndrome is a collection of symptoms that indicate kidney damage. Nephrotic syndrome includes the following:
- proteinurialarge amounts of protein in the urine - hyperlipidemiahigher than normal fat and cholesterol levels in the blood - edema, or swelling, usually in the legs, feet, or ankl... | [
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How to diagnose Parasites - Toxocariasis (also known as Roundworm Infection) ? | If you think you or your child may have toxocariasis, you should see your health care provider to discuss the possibility of infection and, if necessary, to be examined. Toxocariasis can be difficult to diagnose because the symptoms of toxocariasis are similar to the symptoms of other infections. A blood test is availa... | [
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What is (are) glutathione synthetase deficiency ? | Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (... | [
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What are the symptoms of Megalocytic interstitial nephritis ? | What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). | [
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What to do for Cirrhosis ? | - Cirrhosis is a condition in which the liver slowly deteriorates and is unable to function normally due to chronic, or long lasting, injury. Scar tissue replaces healthy liver tissue and partially blocks the flow of blood through the liver. - The most common causes of cirrhosis in the United States are chronic hepati... | [
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How to diagnose Skin Cancer ? | What Happens During Screening? Checking for cancer in a person who does not have any symptoms is called screening. Screening can help diagnose skin problems before they have a chance to become cancerous. A doctor, usually a dermatologist, screens for skin cancer by performing a total-body skin examination. During a ski... | [
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Do you have information about Blood Clots | Summary : Normally, if you get hurt, your body forms a blood clot to stop the bleeding. Some people get too many clots or their blood clots abnormally. Many conditions can cause the blood to clot too much or prevent blood clots from dissolving properly. Risk factors for excessive blood clotting include - Certa... | [
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What are the treatments for Miller syndrome ? | These resources address the diagnosis or management of Miller syndrome: - Genetic Testing Registry: Miller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseli... | [
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How to prevent Prostate Enlargement: Benign Prostatic Hyperplasia ? | Researchers have not found a way to prevent benign prostatic hyperplasia. Men with risk factors for benign prostatic hyperplasia should talk with a health care provider about any lower urinary tract symptoms and the need for regular prostate exams. Men can get early treatment and minimize benign prostatic hyperplasia e... | [
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What are the genetic changes related to congenital fibrosis of the extraocular muscles ? | CFEOM1 and rare cases of CFEOM3 result from mutations in the KIF21A gene. This gene provides instructions for making a protein called a kinesin, which is essential for the transport of materials within cells. Researchers believe that this protein plays an important role in the normal development and function of nerves ... | [
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What are the complications of Abdominal Adhesions ? | Abdominal adhesions can cause intestinal obstruction and female infertilitythe inability to become pregnant after a year of trying.
Abdominal adhesions can lead to female infertility by preventing fertilized eggs from reaching the uterus, where fetal development takes place. Women with abdominal adhesi... | [
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What are the symptoms of Atrial Fibrillation ? | Atrial fibrillation (AF) usually causes the heart's lower chambers, the ventricles, to contract faster than normal.
When this happens, the ventricles can't completely fill with blood. Thus, they may not be able to pump enough blood to the lungs and body. This can lead to signs and symptoms, such as:
... | [
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What are the symptoms of Lung Cancer ? | The possible signs of lung cancer are: - a cough that doesn't go away and gets worse over time - constant chest pain - coughing up blood - shortness of breath, wheezing, or hoarseness - repeated problems with pneumonia or bronchitis - swelling of the neck and face - loss of appetite or weight loss - fatigue. a c... | [
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What is (are) Animal Bites ? | Wild animals usually avoid people. They might attack, however, if they feel threatened, are sick, or are protecting their young or territory. Attacks by pets are more common. Animal bites rarely are life-threatening, but if they become infected, you can develop serious medical problems. To prevent animal bites and ... | [
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What are the symptoms of Gallstones ? | Many people with gallstones do not have symptoms. Gallstones that do not cause symptoms are called asymptomatic, or silent, gallstones. Silent gallstones do not interfere with the function of the gallbladder, liver, or pancreas.
If gallstones block the bile ducts, pressure increases in the gallbladder,... | [
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Is hereditary neuralgic amyotrophy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. | [
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Who is at risk for Hendra Virus Disease (HeV)? ? | Australia’s “Flying fox” bats (genus Pteropus) are the natural reservoir of Hendra virus. Serologic evidence for HeV infection have been found in all fours species of Australian flying foxes, but spillover of the virus in horses is limited to coastal and forested regions in Australia (Queensland and New South Wales sta... | [
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What are the treatments for Gastroparesis ? | An elevated blood glucose level directly interferes with normal stomach emptying, so good blood glucose control in people with diabetes is important. However, gastroparesis can make blood glucose control difficult. When food that has been delayed in the stomach finally enters the small intestine and is absorbed, blood ... | [
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What are the treatments for Urinary Incontinence ? | Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Treatment may include - bladder ... | [
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Who is at risk for Fanconi Anemia? ? | Fanconi anemia (FA) occurs in all racial and ethnic groups and affects men and women equally.
In the United States, about 1 out of every 181 people is an FA carrier. This carrier rate leads to about 1 in 130,000 people being born with FA.
Two ethnic groups, Ashkenazi Jews and Afrikaner... | [
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What are the symptoms of Alopecia universalis ? | What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. In some cases, AU can be associ... | [
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What is (are) Poland syndrome ? | Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. People with Poland syndrome a... | [
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what research (or clinical trials) is being done for Angelman Syndrome ? | The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them. | [
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How to diagnose Rectal Cancer ? | Tests that examine the rectum and colon are used to detect (find) and diagnose rectal cancer. Tests used to diagnose rectal cancer include the following: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else ... | [
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What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ? | What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis syndrome. If the information is available, the table below includes how often the symptom is s... | [
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What are the symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ? | What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. If the information is available, the table below includes how ... | [
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What are the symptoms of Maturity-onset diabetes of the young, type 6 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 6. If the information is available, the table below includes how often the symptom is seen in people with this co... | [
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What are the symptoms of Paget's Disease of Bone ? | Symptoms Many people don't know they have Paget's disease because they have a mild case of the disease and do not have any symptoms. However, people with more advanced cases of the disease will likely have symptoms. Symptoms vary depending on which bone or bones are affected. People with Paget's disease may experience ... | [
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What are the symptoms of Banki syndrome ? | What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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... | [
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What are the stages of Laryngeal Cancer ? | Key Points
- After laryngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the larynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The ... | [
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What is (are) Myocarditis ? | Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore ... | [
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How many people are affected by septo-optic dysplasia ? | Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns. | [
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What are the treatments for autosomal recessive axonal neuropathy with neuromyotonia ? | These resources address the diagnosis or management of autosomal recessive axonal neuropathy with neuromyotonia: - Genetic Testing Registry: Gamstorp-Wohlfart syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Thera... | [
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What are the genetic changes related to Alport syndrome ? | Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vess... | [
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What is (are) Carpenter syndrome ? | Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severe... | [
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What are the symptoms of Chromosome 17p13.1 deletion syndrome ? | What are the signs and symptoms of Chromosome 17p13.1 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17p13.1 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | [
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How many people are affected by malonyl-CoA decarboxylase deficiency ? | This condition is very rare; fewer than 30 cases have been reported. | [
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Is 3-hydroxy-3-methylglutaryl-CoA lyase 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 signs and symptoms of the condition. | [
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What are the symptoms of Johnson neuroectodermal syndrome ? | What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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... | [
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What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ? | SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosi... | [
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What are the symptoms of Juvenile Myelomonocytic Leukemia ? | Signs and symptoms of juvenile myelomonocytic leukemia include fever, weight loss, and feeling very tired. These and other signs and symptoms may be caused by JMML or by other conditions. Check with your doctor if you have any of the following: - Fever for no known reason. - Having infections, such as bronc... | [
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Is nonsyndromic hearing loss inherited ? | As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries on... | [
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