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Is Spondyloepiphyseal dysplasia congenita inherited ? | How is spondyloepiphyseal dysplasia congenita inherited? Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; th... | Spondyloepiphyseal dysplasia congenita |
What are the symptoms of Acromesomelic dysplasia Maroteaux type ? | What are the signs and symptoms of Acromesomelic dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Acromesomelic dysplasia Maroteaux type |
What are the symptoms of Anencephaly and spina bifida X-linked ? | What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Anencephaly and spina bifida X-linked |
What is (are) Embryonal carcinoma ? | Embryonal carcinoma is a type of testicular cancer, which is cancer that starts in the testicles, the male reproductive glands located in the scrotum. It most often develops in young and middle-aged men. It tends to grow rapidly and spread outside the testicle. Embryonal carcinomas are classified as nonseminoma germ ce... | Embryonal carcinoma |
What is (are) Chromosome 1q41-q42 deletion syndrome ? | Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. F... | Chromosome 1q41-q42 deletion syndrome |
What are the symptoms of Chromosome 1q41-q42 deletion syndrome ? | What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Chromosome 1q41-q42 deletion syndrome |
What are the symptoms of Carnosinemia ? | What are the signs and symptoms of Carnosinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnosinemia. 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 ... | Carnosinemia |
What are the symptoms of Talonavicular coalition ? | What are the signs and symptoms of Talonavicular coalition? The Human Phenotype Ontology provides the following list of signs and symptoms for Talonavicular coalition. 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... | Talonavicular coalition |
What are the symptoms of Microtia-Anotia ? | What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. 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... | Microtia-Anotia |
What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ? | What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information... | Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies |
What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ? | What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in... | Cataract-microcephaly-failure to thrive-kyphoscoliosis |
What are the symptoms of Cleft palate short stature vertebral anomalies ? | What are the signs and symptoms of Cleft palate short stature vertebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate short stature vertebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with thi... | Cleft palate short stature vertebral anomalies |
What is (are) Klippel Feil syndrome ? | Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in ... | Klippel Feil syndrome |
What are the symptoms of Klippel Feil syndrome ? | What are the signs and symptoms of Klippel Feil syndrome? Klippel Feil syndrome is characterized by the fusion of 2 or more spinal bones in the neck (cervical vertebrae). The condition is present from birth (congenital). The 3 most common features include a low posterior hairline (at the back of the head); a short neck... | Klippel Feil syndrome |
What causes Klippel Feil syndrome ? | What causes Klippel Feil syndrome (KFS)? The specific underlying causes and mechanisms of Klippel Feil syndrome (KFS)are not well understood. In general medical researchers believe KFS happens when the tissue of the embroyo that normally develops into separate vertebrae does not divide correctly. More specifically, ... | Klippel Feil syndrome |
Is Klippel Feil syndrome inherited ? | Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have be... | Klippel Feil syndrome |
How to diagnose Klippel Feil syndrome ? | How is Klippel Feil syndrome diagnosed? Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of ... | Klippel Feil syndrome |
What are the treatments for Klippel Feil syndrome ? | How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are n... | Klippel Feil syndrome |
What are the symptoms of Ichthyosis cheek eyebrow syndrome ? | What are the signs and symptoms of Ichthyosis cheek eyebrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Ichthyosis cheek eyebrow syndrome |
What is (are) Inflammatory breast cancer ? | Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an o... | Inflammatory breast cancer |
What are the symptoms of Waardenburg syndrome type 2B ? | What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. 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... | Waardenburg syndrome type 2B |
What is (are) Hepatic encephalopathy ? | Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded. Signs and symptoms may be debilitating, and they can begin mildly and gradually, or occur sud... | Hepatic encephalopathy |
Is Hepatic encephalopathy inherited ? | Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly ca... | Hepatic encephalopathy |
What is (are) C1q deficiency ? | C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it... | C1q deficiency |
What are the symptoms of C1q deficiency ? | What are the signs and symptoms of C1q deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for C1q 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 Medical Dictionary to l... | C1q deficiency |
What is (are) Histiocytosis-lymphadenopathy plus syndrome ? | Histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease... | Histiocytosis-lymphadenopathy plus syndrome |
What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? | What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Histiocytosis-lymphadenopathy plus syndrome |
What is (are) Waardenburg syndrome ? | Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes,... | Waardenburg syndrome |
What are the symptoms of Waardenburg syndrome ? | What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg 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... | Waardenburg syndrome |
How to diagnose Waardenburg syndrome ? | How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major ... | Waardenburg syndrome |
What are the symptoms of Cataract, total congenital ? | What are the signs and symptoms of Cataract, total congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, total congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | Cataract, total congenital |
What are the symptoms of Acatalasemia ? | What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look ... | Acatalasemia |
What is (are) Aceruloplasminemia ? | Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid t... | Aceruloplasminemia |
What are the symptoms of Aceruloplasminemia ? | What are the signs and symptoms of Aceruloplasminemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aceruloplasminemia. 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... | Aceruloplasminemia |
How to diagnose Aceruloplasminemia ? | How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People ... | Aceruloplasminemia |
What are the symptoms of Pili torti developmental delay neurological abnormalities ? | What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. If the information is available, the table below includes how often the symptom is s... | Pili torti developmental delay neurological abnormalities |
What are the symptoms of Tiglic acidemia ? | What are the signs and symptoms of Tiglic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Tiglic acidemia. 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... | Tiglic acidemia |
What is (are) Liddle syndrome ? | Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium l... | Liddle syndrome |
What are the symptoms of Liddle syndrome ? | What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood. Individuals typically present with hyp... | Liddle syndrome |
What causes Liddle syndrome ? | What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a diffe... | Liddle syndrome |
Is Liddle syndrome inherited ? | How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an aff... | Liddle syndrome |
How to diagnose Liddle syndrome ? | How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium level... | Liddle syndrome |
What are the treatments for Liddle syndrome ? | How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition. With treatme... | Liddle syndrome |
What are the symptoms of Paralysis agitans, juvenile, of Hunt ? | What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Paralysis agitans, juvenile, of Hunt |
What are the symptoms of Partial agenesis of corpus callosum ? | What are the signs and symptoms of Partial agenesis of corpus callosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Partial agenesis of corpus callosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Partial agenesis of corpus callosum |
What is (are) 17q23.1q23.2 microdeletion syndrome ? | 17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short... | 17q23.1q23.2 microdeletion syndrome |
What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? | What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in partic... | 17q23.1q23.2 microdeletion syndrome |
What causes 17q23.1q23.2 microdeletion syndrome ? | What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in ... | 17q23.1q23.2 microdeletion syndrome |
Is 17q23.1q23.2 microdeletion syndrome inherited ? | Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family. | 17q23.1q23.2 microdeletion syndrome |
How to diagnose 17q23.1q23.2 microdeletion syndrome ? | How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). | 17q23.1q23.2 microdeletion syndrome |
What is (are) Glycogen storage disease type 4 ? | Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in man... | Glycogen storage disease type 4 |
What are the symptoms of Glycogen storage disease type 4 ? | What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a "classic" form characterized by progressive cirrhosis of t... | Glycogen storage disease type 4 |
What causes Glycogen storage disease type 4 ? | What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is form... | Glycogen storage disease type 4 |
Is Glycogen storage disease type 4 inherited ? | How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, ... | Glycogen storage disease type 4 |
What are the treatments for Glycogen storage disease type 4 ? | How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size,... | Glycogen storage disease type 4 |
What are the symptoms of Gollop Coates syndrome ? | What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates 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... | Gollop Coates syndrome |
What is (are) Antley Bixler syndrome ? | Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protrudi... | Antley Bixler syndrome |
What are the symptoms of Antley Bixler syndrome ? | What are the signs and symptoms of Antley Bixler syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Antley Bixler 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... | Antley Bixler syndrome |
What is (are) Nephrogenic diabetes insipidus ? | Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body... | Nephrogenic diabetes insipidus |
What are the symptoms of Nephrogenic diabetes insipidus ? | What are the signs and symptoms of Nephrogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrogenic diabetes insipidus. 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... | Nephrogenic diabetes insipidus |
What causes Nephrogenic diabetes insipidus ? | What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an... | Nephrogenic diabetes insipidus |
Is Nephrogenic diabetes insipidus inherited ? | How is nephrogenic diabetes insipidus inherited? When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome)... | Nephrogenic diabetes insipidus |
How to diagnose Nephrogenic diabetes insipidus ? | Is genetic testing available for nephrogenic diabetes insipidus? Yes. GeneTests lists laboratories offering clinical genetic testing for both X-linked and autosomal types of nephrogenic diabetes insipidus. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical c... | Nephrogenic diabetes insipidus |
What are the treatments for Nephrogenic diabetes insipidus ? | How might nephrogenic diabetes insipidus be treated? Management is usually best accomplished by a team of physicians and other healthcare professionals. The team may include a nutritionist, a pediatric (or adult) nephrologist or endocrinologist, and a clinical geneticist. The basis of management involves free access to... | Nephrogenic diabetes insipidus |
What is (are) Left ventricular noncompaction ? | Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibr... | Left ventricular noncompaction |
What are the symptoms of Waardenburg syndrome type 2A ? | What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. 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... | Waardenburg syndrome type 2A |
What is (are) Spinocerebellar ataxia 3 ? | Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bul... | Spinocerebellar ataxia 3 |
What are the symptoms of Spinocerebellar ataxia 3 ? | What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 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 Med... | Spinocerebellar ataxia 3 |
What is (are) Koolen de Vries syndrome ? | Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizur... | Koolen de Vries syndrome |
What are the symptoms of Koolen de Vries syndrome ? | What are the signs and symptoms of Koolen de Vries syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Koolen de Vries syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | Koolen de Vries syndrome |
How to diagnose Koolen de Vries syndrome ? | How is 17q21.31 microdeletion syndrome diagnosed? 17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cann... | Koolen de Vries syndrome |
What are the symptoms of Beardwell syndrome ? | What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell 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... | Beardwell syndrome |
What is (are) Immunotactoid glomerulopathy ? | Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposi... | Immunotactoid glomerulopathy |
What is (are) Parasites - Ascariasis ? | Ascaris is an intestinal parasite of humans. It is the most common human worm infection. The larvae and adult worms live in the small intestine and can cause intestinal disease. | Parasites - Ascariasis |
Who is at risk for Parasites - Ascariasis? ? | Ascaris infection is one of the most common intestinal worm infections. It is found in association with poor personal hygiene, poor sanitation, and in places where human feces are used as fertilizer.
Geographic Distribution
The geographic distributions of Ascaris are worldwide in areas with warm, moist climate... | Parasites - Ascariasis |
How to diagnose Parasites - Ascariasis ? | The standard method for diagnosing ascariasis is by identifying Ascaris eggs in a stool sample using a microscope. Because eggs may be difficult to find in light infections, a concentration procedure is recommended. | Parasites - Ascariasis |
What are the treatments for Parasites - Ascariasis ? | Anthelminthic medications (drugs that rid the body of parasitic worms), such as albendazole and mebendazole, are the drugs of choice for treatment of Ascaris infections. Infections are generally treated for 1-3 days. The drugs are effective and appear to have few side effects.
More on: Resources for Health Profess... | Parasites - Ascariasis |
How to prevent Parasites - Ascariasis ? | The best way to prevent ascariasis is to always:
- Avoid ingesting soil that may be contaminated with human feces, including where human fecal matter ("night soil") or wastewater is used to fertilize crops.
- Wash your hands with soap and warm water before handling food.
- Teach children the importa... | Parasites - Ascariasis |
What are the symptoms of Ehrlichiosis ? | Symptoms
In the United States, the term “ehrlichiosis” may be broadly applied to several different infections. Ehrlichia chaffeensis and Ehrlichia ewingii are transmitted by the lonestar tick in the southeastern and southcentral United States. In addition, a third Ehrlichia species provisionally call... | Ehrlichiosis |
What is (are) Ehrlichiosis ? | More detailed information on the diagnosis, management, and treatment of ehrlichiosis is available in Diagnosis and Management of Tickborne Rickettsial Diseases: Rocky Mountain Spotted Fever, Ehrlichioses, and Anaplasmosis – United States.
*Case definitions have been updated since publication
How to ... | Ehrlichiosis |
What is (are) Parasites - Lice - Pubic "Crab" Lice ? | Also called crab lice or "crabs," pubic lice are parasitic insects found primarily in the pubic or genital area of humans. Pubic lice infestation is found worldwide and occurs in all races, ethnic groups, and levels of society. | Parasites - Lice - Pubic "Crab" Lice |
Who is at risk for Parasites - Lice - Pubic "Crab" Lice? ? | Pubic ("crab") lice infestation is found worldwide and occurs in all races and ethnic groups and in all levels of society. Pubic lice usually are spread through sexual contact and are most common in adults. Occasionally pubic lice may be spread by close personal contact or contact with articles such as clothing, bed li... | Parasites - Lice - Pubic "Crab" Lice |
How to diagnose Parasites - Lice - Pubic "Crab" Lice ? | Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pu... | Parasites - Lice - Pubic "Crab" Lice |
What are the treatments for Parasites - Lice - Pubic "Crab" Lice ? | A lice-killing lotion containing 1% permethrin or a mousse containing pyrethrins and piperonyl butoxide can be used to treat pubic ("crab") lice. These products are available over-the-counter without a prescription at a local drug store or pharmacy. These medications are safe and effective when used exactly according t... | Parasites - Lice - Pubic "Crab" Lice |
How to prevent Parasites - Lice - Pubic "Crab" Lice ? | Pubic ("crab") lice most commonly are spread directly from person to person by sexual contact. Pubic lice very rarely may be spread by clothing, bedding, or a toilet seat.
The following are steps that can be taken to help prevent and control the spread of pubic ("crab") lice:
- All sexual contacts of the... | Parasites - Lice - Pubic "Crab" Lice |
What is (are) ? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spr... | null |
what is vancomycin-resistant enterococci? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spr... | null |
what types of infections does vancomycin-resistant enterococci cause? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spr... | null |
are certain people at risk of getting vancomycin-resistant enterococci? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spr... | null |
what is the treatment for vancomycin-resistant enterococci? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spr... | null |
how can patients prevent the spread of vancomycin-resistant enterococci? | On this Page General Information What is vancomycin-resistant enterococci? What types of infections does vancomycin-resistant enterococci cause? Are certain people at risk of getting vancomycin-resistant enterococci? What is the treatment for vancomycin-resistant enterococci? How is vancomycin-resistant enterococci spr... | null |
What is (are) Parasites - Enterobiasis (also known as Pinworm Infection) ? | A pinworm ("threadworm") is a small, thin, white roundworm (nematode) called Enterobius vermicularis that sometimes lives in the colon and rectum of humans. Pinworms are about the length of a staple. While an infected person sleeps, female pinworms leave the intestine through the anus and deposit their eggs on the surr... | Parasites - Enterobiasis (also known as Pinworm Infection) |
Who is at risk for Parasites - Enterobiasis (also known as Pinworm Infection)? ? | Risk Factors
The people most likely to be infected with pinworm are children under 18, people who take care of infected children and people who are institutionalized. In these groups, the prevalence can reach 50%.
Pinworm is the most common worm infection in the United States. Humans are the only species that... | Parasites - Enterobiasis (also known as Pinworm Infection) |
How to diagnose Parasites - Enterobiasis (also known as Pinworm Infection) ? | A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. The second option is to touch the pe... | Parasites - Enterobiasis (also known as Pinworm Infection) |
What are the treatments for Parasites - Enterobiasis (also known as Pinworm Infection) ? | The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. The medication does not reliably kill pinworm eggs. Therefore,... | Parasites - Enterobiasis (also known as Pinworm Infection) |
How to prevent Parasites - Enterobiasis (also known as Pinworm Infection) ? | Washing your hands with soap and warm water after using the toilet, changing diapers, and before handling food is the most successful way to prevent pinworm infection. In order to stop the spread of pinworm and possible re-infection, people who are infected should bathe every morning to help remove a large amount of th... | Parasites - Enterobiasis (also known as Pinworm Infection) |
How to prevent La Crosse Encephalitis ? | There is no vaccine against La Crosse encephalitis virus (LACV). Reducing exposure to mosquito bites is the best defense against getting infected with LACV or other mosquito-borne viruses. There are several approaches you and your family can use to prevent and control mosquito-borne diseases.
- Use repellent: When ... | La Crosse Encephalitis |
Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? | Humans can become infected through tick bites or through contact with the blood, feces, or urine of an infected, sick, or dead animal – most commonly, rodents. Occupational and recreational activities such as hunting or trapping may increase human risk of infection.
Transmission may also occur with no direct tick or... | Omsk Hemorrhagic Fever (OHF) |
What are the symptoms of Omsk Hemorrhagic Fever (OHF) ? | After an incubation period of 3-8 days, the symptoms of OHF begin suddenly with chills, fever, headache, and severe muscle pain with vomiting, gastrointestinal symptoms and bleeding problems occurring 3-4 days after initial symptom onset. Patients may experience abnormally low blood pressure and low platelet, red blood... | Omsk Hemorrhagic Fever (OHF) |
Who is at risk for Omsk Hemorrhagic Fever (OHF)? ? | In areas where rodent reservoirs and tick species are prevalent, people with recreational or occupational exposure to rural or outdoor settings (e.g., hunters, campers, forest workers, farmers) are potentially at increased risk for OHF by contact with infected ticks and animals. Furthermore, those in Siberia who hunt a... | Omsk Hemorrhagic Fever (OHF) |
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