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Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital lobar emphysema ? ### Response: 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 become apparent until adulthood.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital lobar emphysema ? ### Response: 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 symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital dyserythropoietic anemia type 3 ? ### Response: 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 available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Glycogen storage disease type 7 ? ### Response: 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 of muscle cells.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Glycogen storage disease type 7 ? ### Response: 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 how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Systemic scleroderma ? ### Response: 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 normally strengthens and supports connective tissues.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Systemic scleroderma ? ### Response: 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 people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Systemic scleroderma ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: Is Systemic scleroderma inherited ? ### Response: 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 other autoimmune disorders, and a few cases of the condition have been reported to run in families.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Systemic scleroderma ? ### Response: 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 known to carry a version of a gene that may make them susceptible to the condition, it does not mean they will definitely develop the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 11 ? ### Response: 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 symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Spinocerebellar ataxia 11 inherited ? ### Response: 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 pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Stratton-Garcia-Young syndrome ? ### Response: 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 often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Aicardi-Goutieres syndrome type 3 ? ### Response: 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 disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Aicardi-Goutieres syndrome type 3 ? ### Response: 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 includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ehlers-Danlos syndrome, vascular type ? ### Response: 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, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs.

Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome, vascular type ? ### Response: 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 protein that provides structure and strength to connective tissues throughout the body.

Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome, vascular type inherited ? ### Response: 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 gene in each cell.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Ehlers-Danlos syndrome, vascular type ? ### Response: 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 gene can then be ordered to confirm the diagnosis.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome, vascular type ? ### Response: 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 example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Asthma ? ### Response: 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 of symptoms ("asthma attacks") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Asthma ? ### Response: 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 the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? ### Response: 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 variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variable degrees of weakness and atrophy of the lower limbs, and optic atrophy with or without visual impairment.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? ### Response: 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 Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Keutel syndrome ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Keutel syndrome ? ### Response: 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 this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Male pseudohermaphroditism intellectual disability syndrome, Verloes type ? ### Response: 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 pseudohermaphroditism intellectual disability syndrome, Verloes type.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neurofibroma ? ### Response: 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.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ? ### Response: 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 available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Crome syndrome ? ### Response: 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 condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile myoclonic epilepsy ? ### Response: 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 people first awaken in the morning.

Below is an instruction from Human. Write a response. ### Instruction: What causes Juvenile myoclonic epilepsy ? ### Response: 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 complex mode of inheritance.

Below is an instruction from Human. Write a response. ### Instruction: Is Juvenile myoclonic epilepsy inherited ? ### Response: 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), but the exact mode of inheritance is not clear.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Juvenile myoclonic epilepsy ? ### Response: 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 anticonvulsants is typically needed and well tolerated.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tularemia ? ### Response: 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 and Asia.

Below is an instruction from Human. Write a response. ### Instruction: What causes Tularemia ? ### Response: 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 an infected tick, horsefly, or mosquito Eating infected meat (rare) Breathing in the bacteria, F.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tularemia ? ### Response: 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 to streptomycin.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chromosome 6p deletion ? ### Response: 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 deletion and which genes are involved.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Baraitser Brett Piesowicz syndrome ? ### Response: 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 includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Frontotemporal dementia ? ### Response: 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 empathy, distractibility, blunted emotions, compulsive behavior, decreased energy and motivation) or problems with language (e.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frontotemporal dementia ? ### Response: 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 seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dyskeratosis congenita autosomal dominant ? ### Response: 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 available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Collagenous colitis ? ### Response: 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 from colonoscopy or sigmoidoscopy.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Collagenous colitis ? ### Response: 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 over time or may be sudden and abrupt.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Collagenous colitis ? ### Response: 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 continue to have ongoing or occasional diarrhea.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 12 ? ### Response: 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 symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypersensitivity vasculitis ? ### Response: 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 the legs, buttocks, or trunk; blisters on the skin; hives (urticaria); and/or open sores with dead tissue (necrotic ulcers).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypersensitivity vasculitis ? ### Response: 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 the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Spinocerebellar ataxia 20 ? ### Response: What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Facial ectodermal dysplasia ? ### Response: 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 the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal dysplasia megalocystis sirenomelia ? ### Response: 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, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Fuhrmann syndrome ? ### Response: 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 with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tricho-dento-osseous syndrome 1 ? ### Response: 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 how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of 8p23.1 duplication syndrome ? ### Response: 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 the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chiari malformation type 1 ? ### Response: 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 passage of the spinal cord), without involving the brainstem.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chiari malformation type 1 ? ### Response: 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 symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Chiari malformation type 1 ? ### Response: 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, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Chiari malformation type 1 ? ### Response: 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 conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Oculopharyngeal muscular dystrophy ? ### Response: 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 the upper eyelids and the throat.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Oculopharyngeal muscular dystrophy ? ### Response: 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 people show one or more symptoms by the age of 70.

Below is an instruction from Human. Write a response. ### Instruction: What causes Oculopharyngeal muscular dystrophy ? ### Response: 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, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins.

Below is an instruction from Human. Write a response. ### Instruction: What causes Oculopharyngeal muscular dystrophy ? ### Response: 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, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Oculopharyngeal muscular dystrophy ? ### Response: 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 view the contact information for the clinical laboratories conducting testing click here.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oculopharyngeal muscular dystrophy ? ### Response: 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 treated with plastic surgery on the eyelid (blepharoplasty).

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Proud syndrome ? ### Response: Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Proud syndrome ? ### Response: What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.

Below is an instruction from Human. Write a response. ### Instruction: What causes Proud syndrome ? ### Response: What causes Proud syndrome? Proud syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is especially important during early embryonic development since it is thought to be involved in the formation of many different body structures such as the pancreas, testes, brain, and muscles used for movement (skeletal muscles).

Below is an instruction from Human. Write a response. ### Instruction: Is Proud syndrome inherited ? ### Response: How is Proud syndrome inherited? Proud 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 the other sex chromosome).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Proud syndrome ? ### Response: How might Proud syndrome be treated? The treatment of Proud syndrome is based on the signs and symptoms present in each person. For example, spasticity may be treated with a variety of therapies including medications and/or physical therapy. Medications may be prescribed to help prevent and/or control recurrent seizures.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Frias syndrome ? ### Response: What are the signs and symptoms of Frias syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Frias syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital anosmia ? ### Response: Congenital anosmia is a very rare condition in which people are born with a lifelong inability to smell. It may occur as an isolated abnormality (no additional symptoms) or be associated with a specific genetic disorder (such as Kallmann syndrome and congenital insensitivity to pain).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital anosmia ? ### Response: What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Congenital anosmia ? ### Response: What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition.

Below is an instruction from Human. Write a response. ### Instruction: Is Congenital anosmia inherited ? ### Response: Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital anosmia ? ### Response: How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Congenital anosmia ? ### Response: How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alpha-1 antitrypsin deficiency ? ### Response: Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alpha-1 antitrypsin deficiency ? ### Response: What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Alpha-1 antitrypsin deficiency ? ### Response: What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Alpha-1 antitrypsin deficiency ? ### Response: How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Alpha-1 antitrypsin deficiency ? ### Response: How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic intestinal pseudoobstruction ? ### Response: Chronic intestinal pseudo-obstruction (CIPO) is a rare but serious condition characterized by repetitive episodes or continuous symptoms of bowel obstruction when no blockage exists. The most common symptoms are abdominal swelling or bloating (distention), vomiting, abdominal pain, failure to thrive, diarrhea, constipation, feeding intolerance and urinary symptoms.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic intestinal pseudoobstruction ? ### Response: What are the signs and symptoms of Chronic intestinal pseudoobstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic intestinal pseudoobstruction. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hypotrichosis-lymphedema-telangiectasia syndrome ? ### Response: Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome ? ### Response: What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ? ### Response: What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Microcephaly-albinism-digital anomalies syndrome ? ### Response: What are the signs and symptoms of Microcephaly-albinism-digital anomalies syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly-albinism-digital anomalies syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Waardenburg syndrome ? ### Response: What are the signs and symptoms of Waardenburg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Waardenburg syndrome ? ### Response: How is Waardenburg syndrome diagnosed? A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) ADNP syndrome ? ### Response: ADNP syndrome, also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of ADNP syndrome ? ### Response: What are the signs and symptoms of ADNP syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADNP syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Marshall-Smith syndrome ? ### Response: Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Marshall-Smith syndrome ? ### Response: What are the signs and symptoms of Marshall-Smith syndrome? Marshall-Smith syndrome is characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including wide and prominent forehead, protruding and widely spaced eyes, blue sclerae (the white part of the eye), depressed nasal bridge, a small, upturned nose, and micrognathia.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Histiocytosis-lymphadenopathy plus syndrome ? ### Response: What are the signs and symptoms of Histiocytosis-lymphadenopathy plus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Histiocytosis-lymphadenopathy plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acatalasemia ? ### Response: What are the signs and symptoms of Acatalasemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acatalasemia. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Chronic hiccups ? ### Response: Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chronic hiccups ? ### Response: What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. If the information is available, the table below includes how often the symptom is seen in people with this condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic hiccups ? ### Response: What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications.

Below is an instruction from Human. Write a response. ### Instruction: What causes Chronic hiccups ? ### Response: What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Chronic hiccups ? ### Response: How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause.