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What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ? | What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | 2,4-Dienoyl-CoA reductase deficiency |
What are the symptoms of Cone dystrophy X-linked with tapetal-like sheen ? | What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. If the information is available, the table below includes how often the symptom is seen in people with t... | Cone dystrophy X-linked with tapetal-like sheen |
What is (are) Diabetes mellitus type 1 ? | Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually... | Diabetes mellitus type 1 |
What are the symptoms of Diabetes mellitus type 1 ? | What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | Diabetes mellitus type 1 |
Is Diabetes mellitus type 1 inherited ? | Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. While the exact cause is not known, some gene... | Diabetes mellitus type 1 |
What is (are) Dihydropteridine reductase deficiency ? | Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is ... | Dihydropteridine reductase deficiency |
What are the symptoms of Dihydropteridine reductase deficiency ? | What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Dihydropteridine reductase deficiency |
What is (are) Congenital disorders of glycosylation ? | Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this ... | Congenital disorders of glycosylation |
What are the symptoms of Congenital disorders of glycosylation ? | What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Congenital disorders of glycosylation |
What are the symptoms of Pulmonary venous return anomaly ? | What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Pulmonary venous return anomaly |
What are the symptoms of Spinocerebellar ataxia 20 ? | What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. 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... | Spinocerebellar ataxia 20 |
What is (are) Aniridia ? | References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 3/30/2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 3/30/2011. | Aniridia |
What are the symptoms of Aniridia ? | What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the d... | Aniridia |
What are the treatments for Aniridia ? | How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrom... | Aniridia |
What are the symptoms of Acanthosis nigricans muscle cramps acral enlargement ? | What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. If the information is available, the table below includes how often the symptom is seen in peo... | Acanthosis nigricans muscle cramps acral enlargement |
What is (are) Childhood hypophosphatasia ? | Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral... | Childhood hypophosphatasia |
What are the symptoms of Childhood hypophosphatasia ? | What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. 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... | Childhood hypophosphatasia |
What is (are) Duchenne muscular dystrophy ? | Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne... | Duchenne muscular dystrophy |
What are the symptoms of Duchenne muscular dystrophy ? | What are the signs and symptoms of Duchenne muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Duchenne muscular dystrophy. 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... | Duchenne muscular dystrophy |
Is Duchenne muscular dystrophy inherited ? | How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one... | Duchenne muscular dystrophy |
How to diagnose Duchenne muscular dystrophy ? | How is Duchenne muscular dystrophy (DMD) diagnosed? Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (close... | Duchenne muscular dystrophy |
What are the treatments for Duchenne muscular dystrophy ? | How might Duchenne muscular dystrophy be treated? There is no known cure for Duchenne muscular dystrophy (DMD). Treatment is aimed at the control of symptoms to maximize the quality of life. Individuals with DMD often experience dilated cardiomyopathy (the heart becomes larger and weaker). This can be treated with medi... | Duchenne muscular dystrophy |
What is (are) Ovarian sex cord tumor with annular tubules ? | An ovarian sex cord tumor with annular tubules (SCTAT) is a tumor that grows from cells in the ovaries known as sex cord cells. As these cells grow, they form tube-like shapes in the tumor. SCTATs can develop in one or both ovaries, and may cause symptoms such as puberty at an exceptionally young age (precocious pube... | Ovarian sex cord tumor with annular tubules |
What causes Ovarian sex cord tumor with annular tubules ? | What causes an ovarian sex cord tumor with annular tubules? Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene. In these genetic cases, many small SCTATs ... | Ovarian sex cord tumor with annular tubules |
What is (are) Axenfeld-Rieger syndrome type 1 ? | Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or ex... | Axenfeld-Rieger syndrome type 1 |
What are the symptoms of Axenfeld-Rieger syndrome type 1 ? | What are the signs and symptoms of Axenfeld-Rieger syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Axenfeld-Rieger syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | Axenfeld-Rieger syndrome type 1 |
How to diagnose Axenfeld-Rieger syndrome type 1 ? | Is genetic testing available for Axenfeld Rieger syndrome? The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a... | Axenfeld-Rieger syndrome type 1 |
What are the treatments for Axenfeld-Rieger syndrome type 1 ? | Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye... | Axenfeld-Rieger syndrome type 1 |
What are the symptoms of Odontomicronychial dysplasia ? | What are the signs and symptoms of Odontomicronychial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontomicronychial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Odontomicronychial dysplasia |
What is (are) Noonan syndrome 3 ? | Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndr... | Noonan syndrome 3 |
What are the symptoms of Noonan syndrome 3 ? | What are the signs and symptoms of Noonan syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionar... | Noonan syndrome 3 |
What are the treatments for Noonan syndrome 3 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... | Noonan syndrome 3 |
What is (are) Pseudoxanthoma elasticum ? | Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the nec... | Pseudoxanthoma elasticum |
What are the symptoms of Pseudoxanthoma elasticum ? | What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. 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... | Pseudoxanthoma elasticum |
How to diagnose Pseudoxanthoma elasticum ? | What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individ... | Pseudoxanthoma elasticum |
What are the treatments for Pseudoxanthoma elasticum ? | What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum. Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar wi... | Pseudoxanthoma elasticum |
What is (are) Potocki-Lupski syndrome ? | Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of ... | Potocki-Lupski syndrome |
What are the symptoms of Potocki-Lupski syndrome ? | What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Potocki-Lupski syndrome |
What is (are) Trigeminal neuralgia ? | Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressi... | Trigeminal neuralgia |
What are the symptoms of Trigeminal neuralgia ? | What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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... | Trigeminal neuralgia |
What are the treatments for Trigeminal neuralgia ? | How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia. These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotri... | Trigeminal neuralgia |
What is (are) Anaplastic ganglioglioma ? | Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which m... | Anaplastic ganglioglioma |
What are the symptoms of Papillary thyroid carcinoma ? | What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid carcinoma. 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... | Papillary thyroid carcinoma |
What are the symptoms of Oculocutaneous albinism type 3 ? | What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 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 Med... | Oculocutaneous albinism type 3 |
What is (are) Multicentric Castleman Disease ? | Multicentric Castleman disease (MCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is "systemic" and affects multiple sets of lymph nodes and other tissues throughout the body (as opposed to unicentric Castleman disease which has more "localized" effects). ... | Multicentric Castleman Disease |
What are the symptoms of Multicentric Castleman Disease ? | What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigu... | Multicentric Castleman Disease |
What causes Multicentric Castleman Disease ? | What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced ... | Multicentric Castleman Disease |
Is Multicentric Castleman Disease inherited ? | Is multicentric Castleman disease inherited? Although the exact underlying cause of multicentric Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. | Multicentric Castleman Disease |
How to diagnose Multicentric Castleman Disease ? | How is multicentric Castleman disease diagnosed? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. However, if MCD is suspected, the following tests may be recommended to help establish the diagnosis and rule out other conditions that cause... | Multicentric Castleman Disease |
What are the treatments for Multicentric Castleman Disease ? | How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block th... | Multicentric Castleman Disease |
What is (are) Eosinophilic enteropathy ? | Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function ... | Eosinophilic enteropathy |
What are the symptoms of Eosinophilic enteropathy ? | What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach c... | Eosinophilic enteropathy |
How to diagnose Eosinophilic enteropathy ? | How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number... | Eosinophilic enteropathy |
What are the treatments for Eosinophilic enteropathy ? | How might eosinophilic enteropathy be treated? There is no "cure" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medic... | Eosinophilic enteropathy |
What are the symptoms of Pseudohypoparathyroidism type 2 ? | What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism 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 M... | Pseudohypoparathyroidism type 2 |
What is (are) Tylosis with esophageal cancer ? | Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosom... | Tylosis with esophageal cancer |
What are the symptoms of Tylosis with esophageal cancer ? | What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. ... | Tylosis with esophageal cancer |
What causes Tylosis with esophageal cancer ? | What causes Tylosis with esophageal cancer? Mutations in the RHBDF2 gene have been shown to cause the development of this condition. | Tylosis with esophageal cancer |
Is Tylosis with esophageal cancer inherited ? | How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition. | Tylosis with esophageal cancer |
What are the treatments for Tylosis with esophageal cancer ? | How might Tylosis with esophageal cancer be treated? Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. Topical t... | Tylosis with esophageal cancer |
What is (are) Congenital radio-ulnar synostosis ? | Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it... | Congenital radio-ulnar synostosis |
What are the symptoms of Congenital radio-ulnar synostosis ? | What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Congenital radio-ulnar synostosis |
What causes Congenital radio-ulnar synostosis ? | What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be ... | Congenital radio-ulnar synostosis |
Is Congenital radio-ulnar synostosis inherited ? | How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an... | Congenital radio-ulnar synostosis |
What are the symptoms of Nevi flammei, familial multiple ? | What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. 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... | Nevi flammei, familial multiple |
What is (are) Plasminogen activator inhibitor type 1 deficiency ? | Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often... | Plasminogen activator inhibitor type 1 deficiency |
What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ? | What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 deficiency. If the information is available, the table below includes how often the symptom is seen in people wi... | Plasminogen activator inhibitor type 1 deficiency |
What is (are) Leiomyosarcoma ? | Leiomyosarcoma is a rare cancerous tumor that consists of smooth (involuntary) muscle cells. Leiomyosarcoma is a type of sarcoma. It spreads through the blood stream and can affect the lungs, liver, blood vessels, or any other soft tissue in the body. The exact cause of leiomyosarcoma is not known, although genetic and... | Leiomyosarcoma |
What are the treatments for Leiomyosarcoma ? | How might leiomyosarcoma be treated? Treatment of leiomyosarcoma varies depending on the location and stage of the cancer. Surgery is typically the first choice for treatment, however, chemotherapy, targeted drugs, radiation therapy, and hormonal therapy may also be used to treat leiomyosarcoma. Additional information ... | Leiomyosarcoma |
What are the symptoms of Familial visceral myopathy with external ophthalmoplegia ? | What are the signs and symptoms of Familial visceral myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial visceral myopathy with external ophthalmoplegia. If the information is available, the table below includes how often the symptom is see... | Familial visceral myopathy with external ophthalmoplegia |
What is (are) Hypoaldosteronism ? | Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due ... | Hypoaldosteronism |
What are the treatments for Hypoaldosteronism ? | How might hypoaldosteronism be treated? Treatment for hypoaldosteronism depends on the underlying condition. Affected individuals are often advised to follow a low-potassium diet with liberal sodium intake. People with hypoaldosteronism should typically avoid ACE inhibitors and potassium-sparing diuretics. Individuals ... | Hypoaldosteronism |
What is (are) Chromosome 4p deletion ? | Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. 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 occ... | Chromosome 4p deletion |
What are the symptoms of Pfeiffer Mayer syndrome ? | What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | Pfeiffer Mayer syndrome |
What are the symptoms of Heart-hand syndrome, Slovenian type ? | What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Heart-hand syndrome, Slovenian type |
What is (are) Chromoblastomycosis ? | Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usually... | Chromoblastomycosis |
What are the symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma ? | What are the signs and symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid changes, cutis verticis gyrata and corneal leukoma. If the information is available, the table below includes how often the ... | Acromegaloid changes, cutis verticis gyrata and corneal leukoma |
What is (are) GM1 gangliosidosis type 3 ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... | GM1 gangliosidosis type 3 |
What are the symptoms of GM1 gangliosidosis type 3 ? | What are the signs and symptoms of GM1 gangliosidosis type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 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 M... | GM1 gangliosidosis type 3 |
What is (are) Pachyonychia congenita ? | Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplanta... | Pachyonychia congenita |
What are the symptoms of Pachyonychia congenita ? | What are the signs and symptoms of Pachyonychia congenita? The signs and symptoms of pachyonychia congenita (PC) vary based on the specific keratin gene involved (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) and the specific gene mutation. However, the most common features of the condition include: Thickened nails Plantar hy... | Pachyonychia congenita |
What causes Pachyonychia congenita ? | What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes alter the struc... | Pachyonychia congenita |
Is Pachyonychia congenita inherited ? | How is pachyonychia congenita inherited? Pachyonychia congenita (PC) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Ot... | Pachyonychia congenita |
How to diagnose Pachyonychia congenita ? | Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a cen... | Pachyonychia congenita |
What are the treatments for Pachyonychia congenita ? | How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary. Some affected people may also require aids... | Pachyonychia congenita |
What is (are) Clear cell renal cell carcinoma ? | Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell r... | Clear cell renal cell carcinoma |
What are the treatments for Clear cell renal cell carcinoma ? | What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America. IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafe... | Clear cell renal cell carcinoma |
What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ? | What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis syndrome. If the information is available, the table below includes how often the symptom is seen in p... | Arthrogryposis renal dysfunction cholestasis syndrome |
What are the symptoms of Jansen type metaphyseal chondrodysplasia ? | What are the signs and symptoms of Jansen type metaphyseal chondrodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Jansen type metaphyseal chondrodysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Jansen type metaphyseal chondrodysplasia |
What is (are) Pendred syndrome ? | Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. I... | Pendred syndrome |
What are the symptoms of Pendred syndrome ? | What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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 ... | Pendred syndrome |
Is Pendred syndrome inherited ? | How is Pendred syndrome inherited? Pendred syndrome is inherited in an autosomal recessive manner. For most autosomal recessive conditions, a person must have 2 changed (mutated) copies of the responsible gene in each cell in order to have the condition. One changed copy of the responsible gene is usually inherited fro... | Pendred syndrome |
What are the symptoms of Van Buchem disease type 2 ? | What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease 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 M... | Van Buchem disease type 2 |
What is (are) Chronic intestinal pseudoobstruction ? | Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipa... | Chronic intestinal pseudoobstruction |
What are the symptoms of Chronic intestinal pseudoobstruction ? | What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | Chronic intestinal pseudoobstruction |
What are the symptoms of Optic atrophy 2 ? | What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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 Dictionary to... | Optic atrophy 2 |
What are the symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification ? | What are the signs and symptoms of Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification. If the information is available, the table below i... | Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification |
What are the symptoms of Congenital alopecia X-linked ? | What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Congenital alopecia X-linked |
What is (are) Cerebellar degeneration ? | Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain ste... | Cerebellar degeneration |
What are the symptoms of Cerebellar degeneration ? | What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or ... | Cerebellar degeneration |
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