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symptoms
What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ?
What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below include...
"### Human: What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ? ### Assistant: What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Sev...
treatment
What are the treatments for familial erythrocytosis ?
These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, familial, 4 - Genetic Testing Registry: Familial erythrocytosis, 1 - MedlinePlu...
"### Human: What are the treatments for familial erythrocytosis ? ### Assistant: These resources address the diagnosis or management of familial erythrocytosis: - Genetic Testing Registry: Erythrocytosis, familial, 2 - Genetic Testing Registry: Erythrocytosis, familial, 3 - Genetic Testing Registry: Erythrocytosis, ...
frequency
How many people are affected by autosomal recessive congenital methemoglobinemia ?
The incidence of autosomal recessive congenital methemoglobinemia is unknown.
"### Human: How many people are affected by autosomal recessive congenital methemoglobinemia ? ### Assistant: The incidence of autosomal recessive congenital methemoglobinemia is unknown."
information
What is (are) Jackson-Weiss syndrome ?
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrom...
"### Human: What is (are) Jackson-Weiss syndrome ? ### Assistant: Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. M...
information
What is (are) Gum (Periodontal) Disease ?
An Infection of the Gums and Surrounding Tissues Gum (periodontal) disease is an infection of the gums and surrounding tissues that hold teeth in place. The two forms of gum disease are gingivitis, a mild form that is reversible with good oral hygiene, and periodontitis, a more severe form that can damage the soft tiss...
"### Human: What is (are) Gum (Periodontal) Disease ? ### Assistant: An Infection of the Gums and Surrounding Tissues Gum (periodontal) disease is an infection of the gums and surrounding tissues that hold teeth in place. The two forms of gum disease are gingivitis, a mild form that is reversible with good oral hygiene...
information
What is (are) Cardiogenic Shock ?
Cardiogenic (kar-dee-oh-JE-nik) shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs. The condition is a medical emergency and is fatal if not treated right away. The most common cause of cardiogenic shock is damage to the heart muscle from a ...
"### Human: What is (are) Cardiogenic Shock ? ### Assistant: Cardiogenic (kar-dee-oh-JE-nik) shock is a condition in which a suddenly weakened heart isn't able to pump enough blood to meet the body's needs. The condition is a medical emergency and is fatal if not treated right away. The most common cau...
inheritance
Is Potocki-Shaffer syndrome inherited ?
Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. More commonly, the conditio...
"### Human: Is Potocki-Shaffer syndrome inherited ? ### Assistant: Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a d...
inheritance
Is Axenfeld-Rieger syndrome inherited ?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
"### Human: Is Axenfeld-Rieger syndrome inherited ? ### Assistant: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder."
treatment
What are the treatments for Osteoarthritis ?
People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm towels, hot packs, or a warm bath or shower -- to increase blood flow a...
"### Human: What are the treatments for Osteoarthritis ? ### Assistant: People with osteoarthritis may find many non-drug ways to relieve pain. Below are some examples. Heat and cold. Heat or cold (or a combination of the two) can be useful for joint pain. Heat can be applied in a number of different ways -- with warm...
information
What is (are) Knee Replacement ?
The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity.
"### Human: What is (are) Knee Replacement ? ### Assistant: The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity."
symptoms
What are the symptoms of Stroke ?
Know the Signs Knowing the warning signs of stroke and controlling stroke's risk factors can lower your risk of death or disability. If you suffer a stroke, you may not realize it at first. The people around you might not know it, either. Your family, friends, or neighbors may think you are unaware or confused. You may...
"### Human: What are the symptoms of Stroke ? ### Assistant: Know the Signs Knowing the warning signs of stroke and controlling stroke's risk factors can lower your risk of death or disability. If you suffer a stroke, you may not realize it at first. The people around you might not know it, either. Your family, friends...
complications
are there complications from botulism?
Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients di...
"### Human: are there complications from botulism? ### Assistant: Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive...
causes
What causes Childhood Brain and Spinal Cord Tumors ?
The cause of most childhood brain and spinal cord tumors is unknown.
"### Human: What causes Childhood Brain and Spinal Cord Tumors ? ### Assistant: The cause of most childhood brain and spinal cord tumors is unknown."
genetic changes
What are the genetic changes related to malignant migrating partial seizures of infancy ?
The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other genes are also thought to be involved in the condition. The KCNT1 gene provides instructions for making a protein that f...
"### Human: What are the genetic changes related to malignant migrating partial seizures of infancy ? ### Assistant: The genetic cause of MMPSI is not fully known. Mutations in the KCNT1 gene have been found in several individuals with this condition and are the most common known cause of MMPSI. Mutations in other gene...
inheritance
Is X-linked dystonia-parkinsonism inherited ?
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have t...
"### Human: Is X-linked dystonia-parkinsonism inherited ? ### Assistant: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene ...
causes
What causes Gas in the Digestive Tract ?
Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. Everyone swallows a small amount of air when eating and drinking. The amount of air swallowed increases when people - eat or drink too fast - smoke ...
"### Human: What causes Gas in the Digestive Tract ? ### Assistant: Gas in the digestive tract is usually caused by swallowing air and by the breakdown of certain foods in the large intestine by bacteria. Everyone swallows a small amount of air when eating and drinking. The amount of air swallowed incr...
genetic changes
What are the genetic changes related to dystonia 6 ?
Dystonia 6 is caused by mutations in the THAP1 gene. This gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other genes. Through this function, it is thought to help control several processes in t...
"### Human: What are the genetic changes related to dystonia 6 ? ### Assistant: Dystonia 6 is caused by mutations in the THAP1 gene. This gene provides instructions for making a protein that is a transcription factor, which means that it attaches (binds) to specific regions of DNA and regulates the activity of other ge...
symptoms
What are the symptoms of Lemierre syndrome ?
What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the in...
"### Human: What are the symptoms of Lemierre syndrome ? ### Assistant: What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the ...
symptoms
What are the symptoms of Catamenial pneumothorax ?
What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic...
"### Human: What are the symptoms of Catamenial pneumothorax ? ### Assistant: What are the signs and symptoms of Catamenial pneumothorax? The Human Phenotype Ontology provides the following list of signs and symptoms for Catamenial pneumothorax. If the information is available, the table below includes how often the sy...
information
What is (are) 5q14.3 microdeletion syndrome ?
5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, up...
"### Human: What is (are) 5q14.3 microdeletion syndrome ? ### Assistant: 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (no...
genetic changes
What are the genetic changes related to 6q24-related transient neonatal diabetes mellitus ?
6q24-related transient neonatal diabetes mellitus is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turne...
"### Human: What are the genetic changes related to 6q24-related transient neonatal diabetes mellitus ? ### Assistant: 6q24-related transient neonatal diabetes mellitus is caused by the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. People inherit two copies ...
information
What is (are) Pseudohypoparathyroidism type 1A ?
Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parat...
"### Human: What is (are) Pseudohypoparathyroidism type 1A ? ### Assistant: Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D i...
information
What is (are) Tetrahydrobiopterin deficiency ?
Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs ...
"### Human: What is (are) Tetrahydrobiopterin deficiency ? ### Assistant: Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the ami...
information
What is (are) Sore Throat ?
Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx (also called the voice box). The technical name for the throat is pharynx. You can have a sore throat for many reasons. Often, colds and flu cause sore throats. Other causes can include: - Allergies - Mononucleosis...
"### Human: What is (are) Sore Throat ? ### Assistant: Your throat is a tube that carries food to your esophagus and air to your windpipe and larynx (also called the voice box). The technical name for the throat is pharynx. You can have a sore throat for many reasons. Often, colds and flu cause sore throats. Other c...
symptoms
What are the symptoms of Hartnup disease ?
What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following: Skin findings: sensitivity to sunlight Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia Psychiatric symptoms: anxiety, emotional instability, mood changes Ocular findings...
"### Human: What are the symptoms of Hartnup disease ? ### Assistant: What are the signs and symptoms of Hartnup disease? The signs and symptoms of Hartnup disease may vary and include the following: Skin findings: sensitivity to sunlight Neurologic symptoms: ataxia, spasticity, headaches,and hypotonia Psychiatric s...
susceptibility
Who is at risk for Merkel Cell Carcinoma? ?
un exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor ...
"### Human: Who is at risk for Merkel Cell Carcinoma? ? ### Assistant: un exposure and having a weak immune system can affect the risk of Merkel cell carcinoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk fa...
symptoms
What are the symptoms of Kleiner Holmes syndrome ?
What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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...
"### Human: What are the symptoms of Kleiner Holmes syndrome ? ### Assistant: What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes syndrome. If the information is available, the table below includes how often the sy...
symptoms
What are the symptoms of Biliary Atresia ?
The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Jaundice occurs when the liver does not remove bilirubin, a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich protein that gives blood its red color. Bilirubin is absorbed by the liver...
"### Human: What are the symptoms of Biliary Atresia ? ### Assistant: The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Jaundice occurs when the liver does not remove bilirubin, a reddish-yellow substance formed when hemoglobin breaks down. Hemoglobin is an iron-rich prot...
symptoms
What are the symptoms of Rowley-Rosenberg syndrome ?
What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M...
"### Human: What are the symptoms of Rowley-Rosenberg syndrome ? ### Assistant: What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg syndrome. If the information is available, the table below includes how often ...
information
What is (are) Carpenter syndrome ?
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severe...
"### Human: What is (are) Carpenter syndrome ? ### Assistant: Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently...
treatment
What are the treatments for palmoplantar keratoderma with deafness ?
These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplantar deafness These resources from MedlinePlus offer information about the diagnosis and manage...
"### Human: What are the treatments for palmoplantar keratoderma with deafness ? ### Assistant: These resources address the diagnosis or management of palmoplantar keratoderma with deafness: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratodermas - Genetic Testing Registry: Keratoderma palmoplan...
inheritance
Is adenine phosphoribosyltransferase deficiency inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
"### Human: Is adenine phosphoribosyltransferase deficiency inherited ? ### Assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gen...
symptoms
What are the symptoms of Popliteal pterygium syndrome ?
What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium 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 Medline...
"### Human: What are the symptoms of Popliteal pterygium syndrome ? ### Assistant: What are the signs and symptoms of Popliteal pterygium syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Popliteal pterygium syndrome. If the information is available, the table below includes h...
symptoms
What are the symptoms of Noonan syndrome 1 ?
What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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 Medical Dictionar...
"### Human: What are the symptoms of Noonan syndrome 1 ? ### Assistant: What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 1. If the information is available, the table below includes how often the symptom is seen in p...
information
What is (are) Myoclonus ?
Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while ...
"### Human: What is (are) Myoclonus ? ### Assistant: Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks...
information
What is (are) Ectopic Kidney ?
The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quar...
"### Human: What is (are) Ectopic Kidney ? ### Assistant: The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra...
treatment
What are the treatments for Guillain-Barr Syndrome ?
There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plasmapheresis (also known as plasma exchange) and high-dose immunoglobulin therapy ...
"### Human: What are the treatments for Guillain-Barr Syndrome ? ### Assistant: There is no known cure for Guillain-Barr syndrome, but therapies can lessen the severity of the illness and accelerate the recovery in most patients. There are also a number of ways to treat the complications of the disease. Currently, plas...
inheritance
Is Kleefstra syndrome inherited ?
The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as ...
"### Human: Is Kleefstra syndrome inherited ? ### Assistant: The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not...
information
What is (are) phosphoglycerate dehydrogenase deficiency ?
Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures (epilepsy). Different types of phosphoglycerate dehydrogenase deficiency have been de...
"### Human: What is (are) phosphoglycerate dehydrogenase deficiency ? ### Assistant: Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, and speech (psychomotor retardation); and recurrent seizures ...
information
What is (are) Cerulean cataract ?
Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually ...
"### Human: What is (are) Cerulean cataract ? ### Assistant: Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progre...
research
what research (or clinical trials) is being done for Alzheimer's Disease ?
All types of people are needed to volunteer for Alzheimers research. People with Alzheimer's disease or MCI, those with a family history of Alzheimers, and healthy people with no memory problems and no family history of Alzheimers may be able to take part in clinical trials. Participants in clinical trials help scienti...
"### Human: what research (or clinical trials) is being done for Alzheimer's Disease ? ### Assistant: All types of people are needed to volunteer for Alzheimers research. People with Alzheimer's disease or MCI, those with a family history of Alzheimers, and healthy people with no memory problems and no family history o...
information
What is (are) Popliteal pterygium syndrome ?
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some...
"### Human: What is (are) Popliteal pterygium syndrome ? ### Assistant: Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the cent...
genetic changes
What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ?
Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research ha...
"### Human: What are the genetic changes related to familial paroxysmal nonkinesigenic dyskinesia ? ### Assistant: Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down...
treatment
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...
"### Human: What are the treatments for Treacher Collins syndrome ? ### Assistant: 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 tea...
research
what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ?
New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Target...
"### Human: what research (or clinical trials) is being done for Gastrointestinal Carcinoid Tumors ? ### Assistant: New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment ...
information
What is (are) Herpes zoster oticus ?
Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active again. Herpes zoster oticus is caused by the spread of the virus ...
"### Human: What is (are) Herpes zoster oticus ? ### Assistant: Herpes zoster oticus is a common complication of shingles, an infection caused by the varicella-zoster virus (which is the virus that also causes chickenpox). Shingles occurs in people who have had chickenpox and the varicella-zoster virus becomes active a...
information
What is (are) Barth Syndrome ?
Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy meta...
"### Human: What is (are) Barth Syndrome ? ### Assistant: Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardioli...
information
What is (are) Chiari malformation ?
Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospina...
"### Human: What is (are) Chiari malformation ? ### Assistant: Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resultin...
inheritance
Is Ghosal hematodiaphyseal dysplasia inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
"### Human: Is Ghosal hematodiaphyseal dysplasia inherited ? ### Assistant: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they...
information
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...
"### Human: What is (are) Left ventricular noncompaction ? ### Assistant: 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 ...
treatment
What are the treatments for Hajdu-Cheney syndrome ?
These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Gene...
"### Human: What are the treatments for Hajdu-Cheney syndrome ? ### Assistant: These resources address the diagnosis or management of Hajdu-Cheney syndrome: - Genetic Testing Registry: Hajdu-Cheney syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health condit...
treatment
What are the treatments for Multifocal Motor Neuropathy ?
Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide.
"### Human: What are the treatments for Multifocal Motor Neuropathy ? ### Assistant: Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive thera...
information
What is (are) Marfan Syndrome ?
Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs,...
"### Human: What is (are) Marfan Syndrome ? ### Assistant: Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective...
treatment
What are the treatments for Parasites - Lice - Head Lice ?
General Guidelines Treatment for head lice is recommended for persons diagnosed with an active infestation. All household members and other close contacts should be checked; those persons with evidence of an active infestation should be treated. Some experts believe prophylactic treatment is prudent for persons wh...
"### Human: What are the treatments for Parasites - Lice - Head Lice ? ### Assistant: General Guidelines Treatment for head lice is recommended for persons diagnosed with an active infestation. All household members and other close contacts should be checked; those persons with evidence of an active infestation sh...
causes
What causes Hemochromatosis ?
What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAM...
"### Human: What causes Hemochromatosis ? ### Assistant: What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the...
symptoms
What are the symptoms of Satoyoshi syndrome ?
What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi 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...
"### Human: What are the symptoms of Satoyoshi syndrome ? ### Assistant: What are the signs and symptoms of Satoyoshi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Satoyoshi syndrome. If the information is available, the table below includes how often the symptom is seen i...
research
what research (or clinical trials) is being done for Febrile Seizures ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-supported scientists are exploring environmental, biological, and genetic risk factors that might mak...
"### Human: what research (or clinical trials) is being done for Febrile Seizures ? ### Assistant: The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on seizures at its research center in Bethesda, Maryland, and through grants to major medical institutions across the country. NINDS-su...
treatment
What are the treatments for Neurotoxicity ?
Treatment involves eliminating or reducing exposure to the toxic substance, followed by symptomatic and supportive therapy.
"### Human: What are the treatments for Neurotoxicity ? ### Assistant: Treatment involves eliminating or reducing exposure to the toxic substance, followed by symptomatic and supportive therapy."
information
What is (are) Tendinitis ?
Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon. Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and soreness around a joint. Some common forms of tendiniti...
"### Human: What is (are) Tendinitis ? ### Assistant: Tendons are flexible bands of tissue that connect muscles to bones. They help your muscles move your bones. Tendinitis is the severe swelling of a tendon. Tendinitis usually happens after repeated injury to an area such as the wrist or ankle. It causes pain and s...
symptoms
What are the symptoms of Congenital myasthenic syndrome with episodic apnea ?
What are the signs and symptoms of Congenital myasthenic syndrome with episodic apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome with episodic apnea. If the information is available, the table below includes how often the symptom is seen in people ...
"### Human: What are the symptoms of Congenital myasthenic syndrome with episodic apnea ? ### Assistant: What are the signs and symptoms of Congenital myasthenic syndrome with episodic apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital myasthenic syndrome with episodic ...
information
What is (are) Mitochondrial complex IV deficiency ?
Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected individuals (even within the same family) and depend on the form of the condition ...
"### Human: What is (are) Mitochondrial complex IV deficiency ? ### Assistant: Cytochrome C oxidase deficiency (COX deficiency) is a condition that can affect several parts of the body including the skeletal muscles, heart, brain and liver. The range and severity of signs and symptoms can vary widely among affected ind...
treatment
What are the treatments for Dermatomyositis ?
How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. The standard treatment for dermatomyositis is a corticosteroid d...
"### Human: What are the treatments for Dermatomyositis ? ### Assistant: How is dermatomyositis treated? While there is no cure for dermatomyositis, the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, an...
causes
What causes Jejunal atresia ?
What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal art...
"### Human: What causes Jejunal atresia ? ### Assistant: What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an ...
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