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What are the treatments for Narcolepsy ? | How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Othe... | Narcolepsy |
What are the symptoms of Kerion celsi ? | What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. 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 ... | Kerion celsi |
What are the symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. If the information is available, the table below includes how often ... | Spinocerebellar ataxia autosomal recessive with axonal neuropathy |
What are the symptoms of Deafness oligodontia syndrome ? | What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | Deafness oligodontia syndrome |
What is (are) Bronchiolitis obliterans ? | Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants.... | Bronchiolitis obliterans |
What are the symptoms of Bronchiolitis obliterans ? | What are the signs and symptoms of bronchiolitis obliterans? Bronchiolitis obliterans is characterized by a dry cough and shortness of breath which develop 2 to 8 weeks after toxic fume exposure or a respiratory illness. Fatigue and wheezing in the absence of a cold or asthma may also be noted. While high resolution ch... | Bronchiolitis obliterans |
What are the treatments for Bronchiolitis obliterans ? | How might bronchiolitis obliterans be treated? While there is no cure for this condition, treatment with corticosteroids can help to stabilize or slow its progression. Immunosuppressive therapies and lung transplants might also be used. Treatment is most effective during the early stages of the disease. If left untreat... | Bronchiolitis obliterans |
What are the symptoms of Spondylometaphyseal dysplasia Algerian type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian type. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Spondylometaphyseal dysplasia Algerian type |
What are the symptoms of Onychotrichodysplasia and neutropenia ? | What are the signs and symptoms of Onychotrichodysplasia and neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychotrichodysplasia and neutropenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Onychotrichodysplasia and neutropenia |
What is (are) Congenital chloride diarrhea ? | Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume de... | Congenital chloride diarrhea |
What are the symptoms of Congenital chloride diarrhea ? | What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. 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 chloride diarrhea |
What are the treatments for Congenital chloride diarrhea ? | How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth... | Congenital chloride diarrhea |
What are the symptoms of Teebi Kaurah syndrome ? | What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Teebi Kaurah syndrome |
What is (are) Hereditary neuralgic amyotrophy ? | Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms. Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.). Second... | Hereditary neuralgic amyotrophy |
What are the symptoms of Hereditary neuralgic amyotrophy ? | What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. 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... | Hereditary neuralgic amyotrophy |
What is (are) Osteogenesis imperfecta type III ? | Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are co... | Osteogenesis imperfecta type III |
What are the symptoms of Osteogenesis imperfecta type III ? | What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Osteogenesis imperfecta type III |
What are the symptoms of Reducing body myopathy ? | What are the signs and symptoms of Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. 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... | Reducing body myopathy |
What are the symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig ? | What are the signs and symptoms of Craniosynostosis-mental retardation syndrome of Lin and Gettig? The Human Phenotype Ontology provides the following list of signs and symptoms for Craniosynostosis-mental retardation syndrome of Lin and Gettig. If the information is available, the table below includes how often the sy... | Craniosynostosis-mental retardation syndrome of Lin and Gettig |
What are the symptoms of Cerebral gigantism jaw cysts ? | What are the signs and symptoms of Cerebral gigantism jaw cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral gigantism jaw cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | Cerebral gigantism jaw cysts |
What is (are) Multiple endocrine neoplasia type 1 ? | Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as we... | Multiple endocrine neoplasia type 1 |
What are the symptoms of Multiple endocrine neoplasia type 1 ? | What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other ... | Multiple endocrine neoplasia type 1 |
What causes Multiple endocrine neoplasia type 1 ? | What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 ... | Multiple endocrine neoplasia type 1 |
Is Multiple endocrine neoplasia type 1 inherited ? | How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) 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 mutati... | Multiple endocrine neoplasia type 1 |
How to diagnose Multiple endocrine neoplasia type 1 ? | Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Gene... | Multiple endocrine neoplasia type 1 |
What are the treatments for Multiple endocrine neoplasia type 1 ? | How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life. Recommended screening includes sp... | Multiple endocrine neoplasia type 1 |
What is (are) Galloway-Mowat syndrome ? | Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability... | Galloway-Mowat syndrome |
What are the symptoms of Galloway-Mowat syndrome ? | What are the signs and symptoms of Galloway-Mowat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Galloway-Mowat 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... | Galloway-Mowat syndrome |
Is Galloway-Mowat syndrome inherited ? | How is Galloway-Mowat syndrome inherited? Galloway-Mowat syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as... | Galloway-Mowat syndrome |
How to diagnose Galloway-Mowat syndrome ? | Is genetic testing available for Galloway-Mowat syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer clinical genetic testing for Galloway-Mowat syndrome. While it is known to be caused by mutations in the WDR73 gene, it has been suggested that other, unidentified genes may a... | Galloway-Mowat syndrome |
What is (are) Hashimoto's syndrome ? | Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may inc... | Hashimoto's syndrome |
What are the symptoms of Hashimoto's syndrome ? | What are the signs and symptoms of Hashimoto's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hashimoto's 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... | Hashimoto's syndrome |
What causes Hashimoto's syndrome ? | What causes Hashimotos syndrome? Hashimoto's syndrome is an autoimmune disorder thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. People with Hashimotos syndrome have antibodies to various thyroid antigens. The antibodies "att... | Hashimoto's syndrome |
Is Hashimoto's syndrome inherited ? | Is Hashimoto's syndrome inherited? The inheritance pattern of Hashimoto's syndrome is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto's syndrome or another autoimmune disorder likely increases a pers... | Hashimoto's syndrome |
What are the symptoms of Spondylometaphyseal dysplasia Sedaghatian type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia Sedaghatian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Sedaghatian type. If the information is available, the table below includes how often the symptom is seen in people with thi... | Spondylometaphyseal dysplasia Sedaghatian type |
What is (are) Congenital mirror movement disorder ? | Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughou... | Congenital mirror movement disorder |
What are the symptoms of Congenital mirror movement disorder ? | What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Congenital mirror movement disorder |
What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to brea... | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycem... | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
What causes Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzy... | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
Is Medium-chain acyl-coenzyme A dehydrogenase deficiency inherited ? | How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the paren... | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ? | How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarni... | Medium-chain acyl-coenzyme A dehydrogenase deficiency |
What are the symptoms of Geleophysic dwarfism ? | What are the signs and symptoms of Geleophysic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Geleophysic dwarfism. 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... | Geleophysic dwarfism |
What is (are) Guttate psoriasis ? | Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper ... | Guttate psoriasis |
What are the treatments for Guttate psoriasis ? | How might guttate psoriasis be treated? The goal of treatment is to control the symptoms and prevent secondary infections. Mild cases of guttate psoriasis are usually treated at home. The following may be recommended: Cortisone (anti-itch and anti-inflammatory) cream Dandruff shampoos (over-the-counter or prescription)... | Guttate psoriasis |
What is (are) Reticulohistiocytoma ? | Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocyte... | Reticulohistiocytoma |
What causes Reticulohistiocytoma ? | What causes reticulohistiocytoma? While it is known that reticulohistiocytoma (RH) develop due to a rapid production of immune cells (histiocytes) in the skin or soft tissues, the cause of this process is not currently known. | Reticulohistiocytoma |
How to diagnose Reticulohistiocytoma ? | How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surroundin... | Reticulohistiocytoma |
What are the treatments for Reticulohistiocytoma ? | How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure. | Reticulohistiocytoma |
What are the symptoms of Mental retardation X-linked syndromic 11 ? | What are the signs and symptoms of Mental retardation X-linked syndromic 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked syndromic 11. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Mental retardation X-linked syndromic 11 |
What is (are) Hereditary multiple osteochondromas ? | Hereditary multiple osteochondromas (HMO) (formerly called hereditary multiple exostoses) is a genetic condition in which people develop multiple benign (noncancerous) bone tumors that are covered by cartilage (called osteochondromas). The number and location of osteochondromas varies greatly among affected individuals... | Hereditary multiple osteochondromas |
What are the symptoms of Hereditary multiple osteochondromas ? | What are the signs and symptoms of Hereditary multiple osteochondromas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary multiple osteochondromas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Hereditary multiple osteochondromas |
Is Hereditary multiple osteochondromas inherited ? | How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual inherits the mutation fro... | Hereditary multiple osteochondromas |
How to diagnose Hereditary multiple osteochondromas ? | Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here. To view the contac... | Hereditary multiple osteochondromas |
What are the treatments for Hereditary multiple osteochondromas ? | How might hereditary multiple osteochondromas (HMO) be treated? Currently, there is no known medical treatment for HMO. Osteochondromas are not usually removed because they stop growing around age 12. Another consideration is how close the tumor is to the affected bone's growth plate, because surgery can affect how the... | Hereditary multiple osteochondromas |
What is (are) Von Hippel-Lindau disease ? | Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the cen... | Von Hippel-Lindau disease |
What are the symptoms of Von Hippel-Lindau disease ? | What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia)... | Von Hippel-Lindau disease |
What causes Von Hippel-Lindau disease ? | What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, ... | Von Hippel-Lindau disease |
Is Von Hippel-Lindau disease inherited ? | How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal... | Von Hippel-Lindau disease |
How to diagnose Von Hippel-Lindau disease ? | How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brai... | Von Hippel-Lindau disease |
What are the treatments for Von Hippel-Lindau disease ? | How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumo... | Von Hippel-Lindau disease |
What is (are) Pelizaeus-Merzbacher disease ? | Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inabilit... | Pelizaeus-Merzbacher disease |
What are the symptoms of Pelizaeus-Merzbacher disease ? | What are the signs and symptoms of Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is divided into classic and severe (connatal) types. Although these two types differ in severity, their symptoms can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those a... | Pelizaeus-Merzbacher disease |
What causes Pelizaeus-Merzbacher disease ? | What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central ... | Pelizaeus-Merzbacher disease |
Is Pelizaeus-Merzbacher disease inherited ? | How is Pelizaeus-Merzbacher disease inherited? | Pelizaeus-Merzbacher disease |
What are the treatments for Pelizaeus-Merzbacher disease ? | How might Pelizaeus-Merzbacher disease be treated? | Pelizaeus-Merzbacher disease |
What are the symptoms of Microduplication Xp11.22-p11.23 syndrome ? | What are the signs and symptoms of Microduplication Xp11.22-p11.23 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microduplication Xp11.22-p11.23 syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Microduplication Xp11.22-p11.23 syndrome |
What are the symptoms of Brachydactyly type A2 ? | What are the signs and symptoms of Brachydactyly type A2? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Brachydactyly type A2 |
What are the symptoms of Dystonia 7, torsion ? | What are the signs and symptoms of Dystonia 7, torsion? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. 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 Dicti... | Dystonia 7, torsion |
What is (are) FG syndrome ? | FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipa... | FG syndrome |
What are the symptoms of FG syndrome ? | What are the signs and symptoms of FG syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for FG 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 look up... | FG syndrome |
What are the treatments for FG syndrome ? | How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education servic... | FG syndrome |
What is (are) Fetal retinoid syndrome ? | Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocep... | Fetal retinoid syndrome |
What is (are) Malignant eccrine spiradenoma ? | Malignant eccrine spiradenoma is a type of tumor that develops from a sweat gland in the skin. It starts as a rapidly-growing bump on the head or abdomen, and may cause tenderness, redness, or an open wound. The exact cause of malignant eccrine spiradenoma is unknown, though it is thought that sun exposure or problem... | Malignant eccrine spiradenoma |
What are the treatments for Malignant eccrine spiradenoma ? | How might malignant eccrine spiradenoma be treated? Surgery to remove as much of the tumor as possible is usually the first step of treatment for malignant eccrine spiradenoma. Both a traditional surgical technique known as wide local excision and the newer Mohs micrographic surgery are thought to be effective for tre... | Malignant eccrine spiradenoma |
What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands a... | Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia |
What are the symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What are the signs and symptoms of Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia? The diagnostic findings of HEM (hydrops fetalis, severe micromelia, and ectopic calcification) have been present in all cases reported in the medical literature thus far. The following are several of the other signs and sy... | Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia |
What causes Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | What causes HEM? HEM is associated with mutations (changes) in the lamin B receptor (LBR) gene located on chromosome 1, specifically at 1q42.1. Each person has two copies of the LBR gene - one inherited from mom and the other from dad. People who have two mutated copies of the LBR gene have HEM; thus, the condition is... | Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia |
How to diagnose Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? | How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM. | Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia |
What are the symptoms of Palmer Pagon syndrome ? | What are the signs and symptoms of Palmer Pagon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmer Pagon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | Palmer Pagon syndrome |
What are the symptoms of Spinocerebellar ataxia 31 ? | What are the signs and symptoms of Spinocerebellar ataxia 31? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 31. 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 31 |
What are the symptoms of Punctate palmoplantar keratoderma type 2 ? | What are the signs and symptoms of Punctate palmoplantar keratoderma type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Punctate palmoplantar keratoderma type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Punctate palmoplantar keratoderma type 2 |
What are the symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan ? | What are the signs and symptoms of Alopecia epilepsy oligophrenia syndrome of Moynahan? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia epilepsy oligophrenia syndrome of Moynahan. If the information is available, the table below includes how often the symptom is seen in peopl... | Alopecia epilepsy oligophrenia syndrome of Moynahan |
What is (are) Treacher Collins syndrome ? | Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (microgn... | Treacher Collins syndrome |
What are the symptoms of Treacher Collins syndrome ? | What are the signs and symptoms of Treacher Collins syndrome? The signs and symptoms of Treacher Collins syndrome vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with ... | Treacher Collins syndrome |
What causes Treacher Collins syndrome ? | What causes Treacher Collins syndrome? Treacher Collins syndrome (TCS) is caused by changes (mutations) in any of several genes: TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown. These genes appear to play important roles in the early development of bones an... | Treacher Collins syndrome |
What are the treatments for Treacher Collins syndrome ? | How might Treacher Collins syndrome be treated? There is currently no cure for Treacher Collins syndrome (TCS). Treatment is tailored to the specific needs of each affected person. Ideally, treatment is managed by a multidisciplinary team of craniofacial specialists. Newborns may need special positioning or tracheostom... | Treacher Collins syndrome |
What are the symptoms of Chondrosarcoma ? | What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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... | Chondrosarcoma |
What are the symptoms of Metachromatic leukodystrophy due to saposin B deficiency ? | What are the signs and symptoms of Metachromatic leukodystrophy due to saposin B deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy due to saposin B deficiency. If the information is available, the table below includes how often the symptom is see... | Metachromatic leukodystrophy due to saposin B deficiency |
What is (are) Femoral facial syndrome ? | Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms ... | Femoral facial syndrome |
What are the symptoms of Femoral facial syndrome ? | What are the signs and symptoms of Femoral facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femoral facial 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... | Femoral facial syndrome |
Is Femoral facial syndrome inherited ? | Is femoral facial syndrome inherited? The vast majority of cases of femoral facial syndrome (FFS) have been sporadic, not inherited. When a condition is sporadic, it means that it occurs in an individual who has no history of the condition in his/her family. Occurrence in more than one family member has been reported i... | Femoral facial syndrome |
What is (are) Metachondromatosis ? | Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the i... | Metachondromatosis |
What are the symptoms of Metachondromatosis ? | What are the signs and symptoms of Metachondromatosis? Metachondromatosis (MC) is characterized by the presence of both multiple enchondromas and osteochondromas. The features of the condition generally become apparent in the first decade of life. Enchondromas are benign (noncancerous) tumors that appear on the inside ... | Metachondromatosis |
What is (are) Disseminated peritoneal leiomyomatosis ? | Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be... | Disseminated peritoneal leiomyomatosis |
What are the symptoms of Disseminated peritoneal leiomyomatosis ? | What are the signs and symptoms of disseminated peritoneal leiomyomatosis (DPL)? Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding... | Disseminated peritoneal leiomyomatosis |
What causes Disseminated peritoneal leiomyomatosis ? | What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal wo... | Disseminated peritoneal leiomyomatosis |
How to diagnose Disseminated peritoneal leiomyomatosis ? | How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnorma... | Disseminated peritoneal leiomyomatosis |
What are the treatments for Disseminated peritoneal leiomyomatosis ? | How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birt... | Disseminated peritoneal leiomyomatosis |
What is (are) Larsen syndrome ? | Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal d... | Larsen syndrome |
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