Datasets:
Druvith
/
medqa

Dataset card Data Studio Files
xet
 Community
1
text
stringlengths
81
29.1k
<s>[INST] How to diagnose Microhydranencephaly ? [/INST] How is microhydranencephaly diagnosed? A diagnosis of microhydranencephaly is generally suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging stud...
<s>[INST] What are the symptoms of Punctate palmoplantar keratoderma type 2 ? [/INST] 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...
<s>[INST] What are the symptoms of Lipodystrophy, familial partial, type 2 ? [/INST] What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. If the information is available, t...
<s>[INST] What is (are) Schwannomatosis ? [/INST] Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based o...
<s>[INST] What are the symptoms of Schwannomatosis ? [/INST] What are the signs and symptoms of Schwannomatosis? Signs and symptoms of the schwannomatosis often develop during adulthood between ages 25 and 30. Affected people generally have multiple schwannomas, which are benign tumors of the nervous system. In schwan...
<s>[INST] What causes Schwannomatosis ? [/INST] What causes schwannomatosis? Some cases of schwannomatosis are caused by changes (mutations) in the SMARCB1 or LZTR1 genes. SMARCB1 and LZTR1 are tumor suppressor genes, which means that they encode a protein that stops cells from growing and dividing too rapidly or in a...
<s>[INST] Is Schwannomatosis inherited ? [/INST] Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This mean...
<s>[INST] How to diagnose Schwannomatosis ? [/INST] How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support ...
<s>[INST] What are the treatments for Schwannomatosis ? [/INST] How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabal...
<s>[INST] What is (are) Usher syndrome, type 1B ? [/INST] Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by t...
<s>[INST] What are the symptoms of Usher syndrome, type 1B ? [/INST] What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. If the information is available, the table below includes how often the symptom is...
<s>[INST] Is Usher syndrome, type 1B inherited ? [/INST] How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically in...
<s>[INST] What is (are) Split hand split foot malformation autosomal recessive ? [/INST] Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition ...
<s>[INST] What are the symptoms of Woodhouse Sakati syndrome ? [/INST] What are the signs and symptoms of Woodhouse Sakati syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woodhouse Sakati syndrome. If the information is available, the table below includes how often the symp...
<s>[INST] What is (are) Catamenial pneumothorax ? [/INST] Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial ...
<s>[INST] What are the symptoms of Catamenial pneumothorax ? [/INST] 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...
<s>[INST] What causes Catamenial pneumothorax ? [/INST] What causes catamenial pneumothorax? The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in th...
<s>[INST] How to diagnose Catamenial pneumothorax ? [/INST] How might catamenial pneumothorax be diagnosed? The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy ...
<s>[INST] What are the treatments for Catamenial pneumothorax ? [/INST] How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to...
<s>[INST] What is (are) Peyronie disease ? [/INST] Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly ...
<s>[INST] What are the symptoms of Peyronie disease ? [/INST] What are the signs and symptoms of Peyronie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Peyronie disease. If the information is available, the table below includes how often the symptom is seen in people with ...
<s>[INST] What are the symptoms of Juberg Marsidi syndrome ? [/INST] What are the signs and symptoms of Juberg Marsidi syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Juberg Marsidi syndrome. If the information is available, the table below includes how often the symptom is...
<s>[INST] What is (are) Congenital mirror movement disorder ? [/INST] 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 m...
<s>[INST] What are the symptoms of Congenital mirror movement disorder ? [/INST] 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 bel...
<s>[INST] What is (are) Partington syndrome ? [/INST] Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusu...
<s>[INST] What are the symptoms of Partington syndrome ? [/INST] What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abn...
<s>[INST] What causes Partington syndrome ? [/INST] What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. a...
<s>[INST] Is Partington syndrome inherited ? [/INST] Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is t...
<s>[INST] What are the treatments for Partington syndrome ? [/INST] How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies includi...
<s>[INST] What is (are) Aplasia cutis congenita ? [/INST] Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While ...
<s>[INST] What are the symptoms of Aplasia cutis congenita ? [/INST] What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is...
<s>[INST] What causes Aplasia cutis congenita ? [/INST] What causes aplasia cutis congenita? There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include geneti...
<s>[INST] What are the treatments for Aplasia cutis congenita ? [/INST] How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical,...
<s>[INST] What is (are) Congenital lobar emphysema ? [/INST] Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not becom...
<s>[INST] What are the symptoms of Congenital lobar emphysema ? [/INST] What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. If the information is available, the table below includes how often the s...
<s>[INST] What are the symptoms of Congenital dyserythropoietic anemia type 3 ? [/INST] What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. If the information is ava...
<s>[INST] What is (are) Glycogen storage disease type 7 ? [/INST] Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning ...
<s>[INST] What are the symptoms of Glycogen storage disease type 7 ? [/INST] What are the signs and symptoms of Glycogen storage disease type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 7. If the information is available, the table below includes ...
<s>[INST] What is (are) Systemic scleroderma ? [/INST] Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normall...
<s>[INST] What are the symptoms of Systemic scleroderma ? [/INST] What are the signs and symptoms of Systemic scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic scleroderma. If the information is available, the table below includes how often the symptom is seen in ...
<s>[INST] What causes Systemic scleroderma ? [/INST] What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fi...
<s>[INST] Is Systemic scleroderma inherited ? [/INST] Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with...
<s>[INST] How to diagnose Systemic scleroderma ? [/INST] Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a "carrier" is not currently available. Even if someone is know...
<s>[INST] What is (are) Spinocerebellar ataxia 11 ? [/INST] Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, incre...
<s>[INST] What are the symptoms of Spinocerebellar ataxia 11 ? [/INST] What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. If the information is available, the table below includes how often the symp...
<s>[INST] Is Spinocerebellar ataxia 11 inherited ? [/INST] How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk ...
<s>[INST] What are the symptoms of Stratton-Garcia-Young syndrome ? [/INST] What are the signs and symptoms of Stratton-Garcia-Young syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stratton-Garcia-Young syndrome. If the information is available, the table below includes how...
<s>[INST] What is (are) Aicardi-Goutieres syndrome type 3 ? [/INST] Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disabili...
<s>[INST] What are the symptoms of Aicardi-Goutieres syndrome type 3 ? [/INST] What are the signs and symptoms of Aicardi-Goutieres syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. If the information is available, the table below inc...
<s>[INST] What is (are) Ehlers-Danlos syndrome, vascular type ? [/INST] Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin,...
<s>[INST] What are the symptoms of Ehlers-Danlos syndrome, vascular type ? [/INST] What are the signs and symptoms of Ehlers-Danlos syndrome, vascular type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), vascular type vary but may include: Fragile tissues (including arteries, muscles and internal organs) that...
<s>[INST] What causes Ehlers-Danlos syndrome, vascular type ? [/INST] What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a prot...
<s>[INST] Is Ehlers-Danlos syndrome, vascular type inherited ? [/INST] Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type 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 gen...
<s>[INST] How to diagnose Ehlers-Danlos syndrome, vascular type ? [/INST] How is Ehlers-Danlos syndrome, vascular type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), vascular type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the COL3A1 gen...
<s>[INST] What are the treatments for Ehlers-Danlos syndrome, vascular type ? [/INST] How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For e...
<s>[INST] What is (are) Asthma ? [/INST] Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes ...
<s>[INST] What are the symptoms of Asthma ? [/INST] What are the signs and symptoms of Asthma? The Human Phenotype Ontology provides the following list of signs and symptoms for Asthma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use th...
<s>[INST] What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? [/INST] Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by var...
<s>[INST] What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? [/INST] What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autos...
<s>[INST] What is (are) Keutel syndrome ? [/INST] Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. Less...
<s>[INST] What are the symptoms of Keutel syndrome ? [/INST] What are the signs and symptoms of Keutel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Keutel syndrome. If the information is available, the table below includes how often the symptom is seen in people with thi...
<s>[INST] What are the symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type ? [/INST] What are the signs and symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type? The Human Phenotype Ontology provides the following list of signs and symptoms for Male ps...
<s>[INST] What is (are) Neurofibroma ? [/INST] A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common. </s...
<s>[INST] What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ? [/INST] What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. If the information is ...
<s>[INST] What are the symptoms of Crome syndrome ? [/INST] What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome syndrome. If the information is available, the table below includes how often the symptom is seen in people with this c...
<s>[INST] What is (are) Juvenile myoclonic epilepsy ? [/INST] Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when ...
<s>[INST] What causes Juvenile myoclonic epilepsy ? [/INST] What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a co...
<s>[INST] Is Juvenile myoclonic epilepsy inherited ? [/INST] Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), b...
<s>[INST] What are the treatments for Juvenile myoclonic epilepsy ? [/INST] How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anti...
<s>[INST] What is (are) Tularemia ? [/INST] Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. It is transmitted to humans by contact with infected animal tissues or by ticks, biting flies, and mosquitoes. The condition is most common in North America and parts of Europe a...
<s>[INST] What are the symptoms of Tularemia ? [/INST] What are the symptoms of tularemia? The symptoms of tularemia usually appear 3 to 5 days after exposure to the bacteria, but can take as long as 14 days. Symptoms may include: Fever Chills Headache Diarrhea Muscle pains Joint stiffness Dry cough Progressive we...
<s>[INST] What causes Tularemia ? [/INST] What causes tularemia? Tularemia is caused by the bacterium Francisella tularensis found in animals (especially rodents, rabbits, and hares). Humans can get the disease through: Direct contact, through a break in the skin, with an infected animal or its dead body The bite of a...
<s>[INST] What are the treatments for Tularemia ? [/INST] How is tularemia treated? The goal of treatment is to cure the infection with antibiotics. Streptomycin and tetracycline are commonly used to treat this infection. Once daily gentamycin treatment has been tried with excellent results as an alternative therapy t...
<s>[INST] What is (are) Chromosome 6p deletion ? [/INST] Chromosome 6p 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 6. The severity of the condition and the signs and symptoms depend on the size and location of the dele...
<s>[INST] What are the symptoms of Baraitser Brett Piesowicz syndrome ? [/INST] What are the signs and symptoms of Baraitser Brett Piesowicz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Baraitser Brett Piesowicz syndrome. If the information is available, the table below ...
<s>[INST] What is (are) Frontotemporal dementia ? [/INST] Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of em...
<s>[INST] What are the symptoms of Frontotemporal dementia ? [/INST] What are the signs and symptoms of Frontotemporal dementia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia. If the information is available, the table below includes how often the symptom is...
<s>[INST] What are the symptoms of Dyskeratosis congenita autosomal dominant ? [/INST] What are the signs and symptoms of Dyskeratosis congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyskeratosis congenita autosomal dominant. If the information is availa...
<s>[INST] What is (are) Collagenous colitis ? [/INST] Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed fro...
<s>[INST] What are the symptoms of Collagenous colitis ? [/INST] What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually ...
<s>[INST] What are the treatments for Collagenous colitis ? [/INST] How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people con...
<s>[INST] What are the symptoms of Spinocerebellar ataxia 12 ? [/INST] What are the signs and symptoms of Spinocerebellar ataxia 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 12. If the information is available, the table below includes how often the symp...
<s>[INST] What is (are) Hypersensitivity vasculitis ? [/INST] Hypersensitivity vasculitis is an extreme reaction to a drug, infection, or foreign substance that leads to inflammation and damage to blood vessels of the skin. Signs and symptoms may include purple-colored spots and patches on the skin; skin lesions on th...
<s>[INST] What are the symptoms of Hypersensitivity vasculitis ? [/INST] What are the signs and symptoms of Hypersensitivity vasculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypersensitivity vasculitis. If the information is available, the table below includes how often th...
<s>[INST] What are the symptoms of Spinocerebellar ataxia 20 ? [/INST] 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 symp...
<s>[INST] What are the symptoms of Facial ectodermal dysplasia ? [/INST] What are the signs and symptoms of Facial ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Facial ectodermal dysplasia. If the information is available, the table below includes how often th...
<s>[INST] What are the symptoms of Renal dysplasia megalocystis sirenomelia ? [/INST] What are the signs and symptoms of Renal dysplasia megalocystis sirenomelia? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia megalocystis sirenomelia. If the information is available...
<s>[INST] What are the symptoms of Fuhrmann syndrome ? [/INST] What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann syndrome. If the information is available, the table below includes how often the symptom is seen in people wi...
<s>[INST] What are the symptoms of Tricho-dento-osseous syndrome 1 ? [/INST] What are the signs and symptoms of Tricho-dento-osseous syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous syndrome 1. If the information is available, the table below includes ...
<s>[INST] What are the symptoms of 8p23.1 duplication syndrome ? [/INST] What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication syndrome. If the information is available, the table below includes how often th...
<s>[INST] What is (are) Chiari malformation type 1 ? [/INST] Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows...
<s>[INST] What are the symptoms of Chiari malformation type 1 ? [/INST] What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 1. If the information is available, the table below includes how often the s...
<s>[INST] What causes Chiari malformation type 1 ? [/INST] What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, ...
<s>[INST] What are the treatments for Chiari malformation type 1 ? [/INST] How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservative...
<s>[INST] What is (are) Oculopharyngeal muscular dystrophy ? [/INST] Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of th...
<s>[INST] What are the symptoms of Oculopharyngeal muscular dystrophy ? [/INST] What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most ...
<s>[INST] What causes Oculopharyngeal muscular dystrophy ? [/INST] What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, th...
<s>[INST] Is Oculopharyngeal muscular dystrophy inherited ? [/INST] How is oculopharyngeal muscular dystrophy inherited? </s></s>
<s>[INST] How to diagnose Oculopharyngeal muscular dystrophy ? [/INST] Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To vi...
<s>[INST] What are the treatments for Oculopharyngeal muscular dystrophy ? [/INST] How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be ...