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Below is an instruction from Human. Write a response. ### Instruction: What is (are) Tracheobronchomalacia ? ### Response: Tracheobronchomalacia (TBM) is a rare condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM: a congenital form (called primary TBM) that typically develops during infancy or early childhood and an acquired form (called secondary TBM) that is usually seen in adults.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tracheobronchomalacia ? ### Response: What are the signs and symptoms of tracheobronchomalacia? Tracheobronchomalacia (TBM) is a condition that occurs when the walls of the airway (specifically the trachea and bronchi) are weak. This can cause the airway to become narrow or collapse. There are two forms of TBM.

Below is an instruction from Human. Write a response. ### Instruction: What causes Tracheobronchomalacia ? ### Response: What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi).

Below is an instruction from Human. Write a response. ### Instruction: Is Tracheobronchomalacia inherited ? ### Response: Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tracheobronchomalacia ? ### Response: How is tracheobronchomalacia diagnosed? A diagnosis of tracheobronchomalacia (TBM) may be suspected based on the presence of characteristic signs and symptoms or abnormal pulmonary function tests. Additional testing such as CT scan and bronchoscopy can then be performed to confirm the diagnosis and evaluate the severity of the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tracheobronchomalacia ? ### Response: How might tracheobronchomalacia be treated? Treatment is only medically necessary in people who have signs and symptoms of tracheobronchomalacia (TBM). Management of symptomatic TBM first involves identifying underlying conditions contributing to symptoms, such as chronic inflammation, compression, or injury.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Johnson neuroectodermal syndrome ? ### Response: What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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 Diabetes insipidus nephrogenic mental retardation and intracerebral calcification ? ### Response: What are the signs and symptoms of Diabetes insipidus nephrogenic mental retardation and intracerebral calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes insipidus nephrogenic mental retardation and intracerebral calcification.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Angel shaped phalangoepiphyseal dysplasia ? ### Response: What are the signs and symptoms of Angel shaped phalangoepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Angel shaped phalangoepiphyseal 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 is (are) Chromosome 8q24.3 deletion syndrome ? ### Response: Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Chromosome 8q24.3 deletion syndrome ? ### Response: What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion 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) Amelogenesis imperfecta ? ### Response: Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage.

Below is an instruction from Human. Write a response. ### Instruction: What causes Amelogenesis imperfecta ? ### Response: What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth.

Below is an instruction from Human. Write a response. ### Instruction: Is Amelogenesis imperfecta inherited ? ### Response: How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Amelogenesis imperfecta ? ### Response: How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Amelogenesis imperfecta ? ### Response: How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial episodic pain syndrome ? ### Response: What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain 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 Hepatic venoocclusive disease with immunodeficiency ? ### Response: What are the signs and symptoms of Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. 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 Nephrotic syndrome, idiopathic, steroid-resistant ? ### Response: What are the signs and symptoms of Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. 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 Diamond-Blackfan anemia 3 ? ### Response: What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 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 Desmoid tumor ? ### Response: What are the signs and symptoms of Desmoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmoid tumor. 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 Von Hippel-Lindau disease ? ### Response: What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia).

Below is an instruction from Human. Write a response. ### Instruction: What causes Von Hippel-Lindau disease ? ### Response: What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.

Below is an instruction from Human. Write a response. ### Instruction: Is Von Hippel-Lindau disease inherited ? ### Response: How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Von Hippel-Lindau disease ? ### Response: How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Dystonia 16 ? ### Response: What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. 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 Frontofacionasal dysplasia ? ### Response: What are the signs and symptoms of Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal 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 Ataxia telangiectasia ? ### Response: What are the signs and symptoms of Ataxia telangiectasia? Ataxia-telangiectasia affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Carney triad ? ### Response: What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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 Meckel syndrome type 2 ? ### Response: What are the signs and symptoms of Meckel syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 2. 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 Oculomaxillofacial dysostosis ? ### Response: What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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) Disseminated peritoneal leiomyomatosis ? ### Response: Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous.

Below is an instruction from Human. Write a response. ### Instruction: What causes Disseminated peritoneal leiomyomatosis ? ### Response: What causes disseminated peritoneal leiomyomatosis (DPL)? The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Disseminated peritoneal leiomyomatosis ? ### Response: How is disseminated peritoneal leiomyomatosis (DPL) diagnosed? An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Disseminated peritoneal leiomyomatosis ? ### Response: How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hyde Forster Mccarthy Berry syndrome ? ### Response: What are the signs and symptoms of Hyde Forster Mccarthy Berry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyde Forster Mccarthy Berry 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 Diffuse cutaneous systemic sclerosis ? ### Response: What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. 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 Epidermolysis bullosa simplex, Dowling-Meara type ? ### Response: What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. 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 Pheochromocytoma-islet cell tumor syndrome ? ### Response: What are the signs and symptoms of Pheochromocytoma-islet cell tumor syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pheochromocytoma-islet cell tumor 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) Meningoencephalocele ? ### Response: Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac.

Below is an instruction from Human. Write a response. ### Instruction: What causes Meningoencephalocele ? ### Response: What causes meningoencephalocele? The exact cause of meningoencephalocele is not known. Some studies have suggested that environmental factors could play a role in causing the condition. Exposure during pregnancy to aflatoxins, toxins produced by a mold that grows in nuts, seeds, and legumes, has been proposed to be a possible cause in some cases.

Below is an instruction from Human. Write a response. ### Instruction: Is Meningoencephalocele inherited ? ### Response: Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Presenile dementia, Kraepelin type ? ### Response: What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin type. 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 Mental retardation, X-linked, nonspecific ? ### Response: What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. 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 Oculoectodermal syndrome ? ### Response: What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal 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) Parsonage Turner syndrome ? ### Response: Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an illness or environmental factor.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Parsonage Turner syndrome ? ### Response: What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side.

Below is an instruction from Human. Write a response. ### Instruction: What causes Parsonage Turner syndrome ? ### Response: What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified.

Below is an instruction from Human. Write a response. ### Instruction: Is Parsonage Turner syndrome inherited ? ### Response: Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Parsonage Turner syndrome ? ### Response: How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause similar features.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gupta Patton syndrome ? ### Response: What are the signs and symptoms of Gupta Patton syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gupta Patton 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 Reticular dysgenesis ? ### Response: What are the signs and symptoms of Reticular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticular dysgenesis. 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 Bowen syndrome ? ### Response: What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen 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) Tietze syndrome ? ### Response: Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). Signs and symptoms of this condition usually develop in young adults (before age 40) and include mild to severe chest pain that may extend into the arms and/or shoulders.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietze syndrome ? ### Response: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietze syndrome ? ### Response: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tietze syndrome ? ### Response: What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Tietze syndrome ? ### Response: How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Tietze syndrome ? ### Response: How might Tietze syndrome be treated? In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity; applying local heat; taking pain medications and/or nonsteroidal anti-inflammatory drugs; and receiving local corticosteroid injections.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Geniospasm ? ### Response: Hereditary geniospasm is a movement disorder that causes episodes of involuntary tremors of the chin and lower lip. The episodes may last anywhere from a few seconds to hours and may occur spontaneously or be brought on by stress. The episodes usually first appear in infancy or childhood and tend to lessen in frequency with age.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Geniospasm ? ### Response: What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. 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 Geniospasm inherited ? ### Response: How is hereditary geniospasm inherited? Hereditary geniospasm is inherited in an autosomal dominant manner. This means that having only one mutated copy of the causative gene in each body cell is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene and also be affected.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Geniospasm ? ### Response: How might hereditary geniospasm be diagnosed? Although we were unable to locate laboratories offering genetic testing for hereditary geniospasm, the condition can be diagnosed on the basis of a clinical evaluation performed by a health care professional such as a neurologist who specializes in movement disorders.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Geniospasm ? ### Response: How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Saccharopinuria ? ### Response: What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. 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) Pityriasis rubra pilaris ? ### Response: Pityriasis rubra pilaris (PRP) refers to a group of skin conditions that cause constant inflammation and scaling of the skin. Affected people have reddish-orange colored patches; they may occur everywhere on the body or only on certain areas. There are several types of PRP, which are classified based on age of onset, body areas affected, and whether other associated conditions are present.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pityriasis rubra pilaris ? ### Response: What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of the palms and soles.

Below is an instruction from Human. Write a response. ### Instruction: What causes Pityriasis rubra pilaris ? ### Response: What causes pityriasis rubra pilaris? In most cases, pityriasis rubra pilaris (PRP) occurs sporadically for unknown reasons. In a few families with the inherited form, familial PRP, the condition is caused by mutations in the CARD14 gene. This gene gives instructions for making a protein that turns on other proteins that regulate genes that control the body's immune responses and inflammatory reactions.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pityriasis rubra pilaris ? ### Response: How might pityriasis rubra pilaris be treated? Treatment of pityriasis rubra pilaris (PRP) is mainly based on reports of patients' experiences. No controlled trials have been done, so the effectiveness and safety of treatments is unclear. Currently there are no treatments approved by the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA) for use in PRP.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ? ### Response: What are the signs and symptoms of Epiphyseal dysplasia hearing loss dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. 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 Yorifuji Okuno syndrome ? ### Response: What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno 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 Spastic quadriplegia retinitis pigmentosa mental retardation ? ### Response: What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. 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 Gorlin Chaudhry Moss syndrome ? ### Response: What are the signs and symptoms of Gorlin Chaudhry Moss syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Chaudhry Moss 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) Limited systemic sclerosis ? ### Response: Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction which leads to the overproduction of collagen (a tough protein which normally strengthens and supports connective tissues throughout the body).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Kowarski syndrome ? ### Response: What are the signs and symptoms of Kowarski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kowarski 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 Ehlers-Danlos-like syndrome due to tenascin-X deficiency ? ### Response: What are the signs and symptoms of Ehlers-Danlos-like syndrome due to tenascin-X deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos-like syndrome due to tenascin-X 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 are the symptoms of Karak syndrome ? ### Response: What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak 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 Encephalomyopathy ? ### Response: What are the signs and symptoms of Encephalomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalomyopathy. 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) Norrie disease ? ### Response: Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. Additional symptoms may occur in some cases, although this varies even among individuals in the same family. Most affected individuals develop sensorineural hearing loss and many exhibit cognitive abnormalities such as developmental delays, behavioral issues, or psychotic-like features.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Norrie disease ? ### Response: What are the signs and symptoms of Norrie disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Norrie disease. 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 Norrie disease ? ### Response: What causes Norrie disease? Norrie disease is caused by a change (mutation) in the NDP gene, which is located on the X chromosome. It is inherited in an X-linked recessive manner. The NDP gene provides instructions for making a protein called norrin, which affects the way cells and tissues develop.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Norrie disease ? ### Response: How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Alagille syndrome ? ### Response: Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Alagille syndrome ? ### Response: What are the signs and symptoms of Alagille syndrome? Alagille syndrome is a complex multisystem disorder involving the liver, heart, eyes, face, and skeleton. Symptoms typically present in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Amyloidosis corneal ? ### Response: What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. 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 Amyloidosis corneal ? ### Response: Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Schnitzler syndrome ? ### Response: Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition.

Below is an instruction from Human. Write a response. ### Instruction: What causes Schnitzler syndrome ? ### Response: What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M).

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Schnitzler syndrome ? ### Response: How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other conditions that cause similar features.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Ulnar-mammary syndrome ? ### Response: What are the signs and symptoms of Ulnar-mammary syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar-mammary 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 Chondrodysplasia with joint dislocations, GPAPP type ? ### Response: What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP type. 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) Osteomesopyknosis ? ### Response: Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Osteomesopyknosis ? ### Response: What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers.

Below is an instruction from Human. Write a response. ### Instruction: Is Osteomesopyknosis inherited ? ### Response: How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Acrodysplasia scoliosis ? ### Response: Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Acrodysplasia scoliosis ? ### Response: What are the signs and symptoms of Acrodysplasia scoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodysplasia scoliosis. 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 Microtia-Anotia ? ### Response: What are the signs and symptoms of Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. 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) Autosomal recessive pseudohypoaldosteronism type 1 ? ### Response: Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ? ### Response: What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism 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 are the symptoms of Normophosphatemic familial tumoral calcinosis ? ### Response: What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. If the information is available, the table below includes how often the symptom is seen in people with this condition.