Datasets:

Tonic

/

medquad

like 2

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Seminoma ? ### Response: What are the signs and symptoms of Seminoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Seminoma. 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) Juvenile-onset dystonia ? ### Response: Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Juvenile-onset dystonia ? ### Response: What are the signs and symptoms of Juvenile-onset dystonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile-onset dystonia. 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 Oto-palato-digital syndrome type 1 ? ### Response: What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome 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 Neuropathy, distal hereditary motor, Jerash type ? ### Response: What are the signs and symptoms of Neuropathy, distal hereditary motor, Jerash type? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuropathy, distal hereditary motor, Jerash 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 Macrocephaly-capillary malformation ? ### Response: What are the signs and symptoms of Macrocephaly-capillary malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrocephaly-capillary malformation. 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) Infectious arthritis ? ### Response: Infectious arthritis is joint pain, soreness, stiffness and swelling caused by a bacterial, viral, or fungal infection that spreads from another part of the body. Depending on the type of infection, one or more joints may be affected. Certain bacteria can cause a form of infectious arthritis called reactive arthritis, which appears to be caused by the immune system reacting to bacteria, rather than by the infection itself.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pilocytic astrocytoma ? ### Response: Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pilocytic astrocytoma ? ### Response: What are the signs and symptoms of pilocytic astrocytoma? People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus.

Below is an instruction from Human. Write a response. ### Instruction: What causes Pilocytic astrocytoma ? ### Response: What causes pilocytic astrocytoma? The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.

Below is an instruction from Human. Write a response. ### Instruction: Is Pilocytic astrocytoma inherited ? ### Response: Are pilocytic astrocytomas inherited? Pilocytic astrocytomas are typically sporadic, occurring by chance in individuals with no history of the condition in the family. Sporadic abnormalities are not inherited from a parent and are not likely to recur in a family.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Sturge-Weber syndrome ? ### Response: Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Sturge-Weber syndrome ? ### Response: What are the signs and symptoms of Sturge-Weber syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sturge-Weber 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 treatments for Sturge-Weber syndrome ? ### Response: What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incidence of adverse skin changes and other side effects.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Multiple endocrine neoplasia type 1 ? ### Response: Multiple endocrine neoplasia, type 1 (MEN1) is an inherited condition that causes tumors of the endocrine system (the body's network of hormone-producing glands). People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Multiple endocrine neoplasia type 1 ? ### Response: What are the signs and symptoms of Multiple endocrine neoplasia type 1? Multiple endocrine neoplasia, type 1 (MEN1) is characterized primarily by several different types of endocrine tumors. People affected by MEN1 typically develop tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well.

Below is an instruction from Human. Write a response. ### Instruction: What causes Multiple endocrine neoplasia type 1 ? ### Response: What causes multiple endocrine neoplasia, type 1? Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way.

Below is an instruction from Human. Write a response. ### Instruction: Is Multiple endocrine neoplasia type 1 inherited ? ### Response: How is multiple endocrine neoplasia, type 1 inherited? Multiple endocrine neoplasia, type 1 (MEN1) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Multiple endocrine neoplasia type 1 ? ### Response: Is genetic testing available for multiple endocrine neoplasia, type 1? Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Multiple endocrine neoplasia type 1 ? ### Response: How might multiple endocrine neoplasia, type 1 be treated? People with multiple endocrine neoplasia, type 1 (MEN1) are usually managed with regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Beare-Stevenson cutis gyrata syndrome ? ### Response: Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? ### Response: What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata 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 Retinal cone dystrophy 1 ? ### Response: What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 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 Johnston Aarons Schelley syndrome ? ### Response: What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Cerulean cataract ? ### Response: Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cerulean cataract ? ### Response: What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. 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 treatments for Cerulean cataract ? ### Response: How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pancreatic cancer, childhood ? ### Response: What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. 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, progeroid type ? ### Response: Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence.

Below is an instruction from Human. Write a response. ### Instruction: What causes Ehlers-Danlos syndrome, progeroid type ? ### Response: What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue).

Below is an instruction from Human. Write a response. ### Instruction: Is Ehlers-Danlos syndrome, progeroid type inherited ? ### Response: How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ehlers-Danlos syndrome, progeroid type ? ### Response: How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Gray platelet syndrome ? ### Response: Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Gray platelet syndrome ? ### Response: What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Gray platelet syndrome ? ### Response: How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Episodic ataxia with nystagmus ? ### Response: What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. 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) Pterygium of the conjunctiva and cornea ? ### Response: Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pterygium of the conjunctiva and cornea ? ### Response: What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. 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) Pearson syndrome ? ### Response: Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pearson syndrome ? ### Response: What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson 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) Brown-Sequard syndrome ? ### Response: Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Nail dysplasia, isolated congenital ? ### Response: What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. 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 Pseudoprogeria syndrome ? ### Response: What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria 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: Is Neurofibromatosis inherited ? ### Response: Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) CHILD syndrome ? ### Response: CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of CHILD syndrome ? ### Response: What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD 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 Microcephaly brain defect spasticity hypernatremia ? ### Response: What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. 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 brain defect spasticity hypernatremia ? ### Response: What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. 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 IBIDS syndrome ? ### Response: What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects.

Below is an instruction from Human. Write a response. ### Instruction: Is IBIDS syndrome inherited ? ### Response: What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for IBIDS syndrome ? ### Response: What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ? ### Response: What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase 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 Isolated growth hormone deficiency type 3 ? ### Response: What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency 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 Stomatocytosis I ? ### Response: What are the signs and symptoms of Stomatocytosis I? The Human Phenotype Ontology provides the following list of signs and symptoms for Stomatocytosis I. 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) Muscular dystrophy, congenital, merosin-positive ? ### Response: The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Muscular dystrophy, congenital, merosin-positive ? ### Response: What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. 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) Pseudopseudohypoparathyroidism ? ### Response: Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pseudopseudohypoparathyroidism ? ### Response: What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. 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 Treacher Collins syndrome 3 ? ### Response: What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 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) Pityriasis lichenoides et varioliformis acuta ? ### Response: Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pityriasis lichenoides et varioliformis acuta ? ### Response: What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules.

Below is an instruction from Human. Write a response. ### Instruction: What causes Pityriasis lichenoides et varioliformis acuta ? ### Response: What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Pityriasis lichenoides et varioliformis acuta ? ### Response: How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated infection.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Pityriasis lichenoides et varioliformis acuta ? ### Response: How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Konigsmark Knox Hussels syndrome ? ### Response: Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Konigsmark Knox Hussels syndrome ? ### Response: What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels 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 causes Konigsmark Knox Hussels syndrome ? ### Response: What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Konigsmark Knox Hussels syndrome ? ### Response: Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. 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 symptoms of Follicle-stimulating hormone deficiency, isolated ? ### Response: What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. 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 ectodermal dysplasia with hearing loss ? ### Response: What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. 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) Prune belly syndrome ? ### Response: Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like"; (2) undescended testicles in males; and (3) urinary tract problems.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Prune belly syndrome ? ### Response: What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra.

Below is an instruction from Human. Write a response. ### Instruction: What causes Prune belly syndrome ? ### Response: What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lung adenocarcinoma ? ### Response: Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lung adenocarcinoma ? ### Response: What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. 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 generalized lipodystrophy type 1 ? ### Response: What are the signs and symptoms of Congenital generalized lipodystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy 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 is (are) Autosomal recessive hyper IgE syndrome ? ### Response: Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Autosomal recessive hyper IgE syndrome ? ### Response: What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE 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 Ichthyosis alopecia eclabion ectropion mental retardation ? ### Response: What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion 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 Erythroderma lethal congenital ? ### Response: What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. 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) Arts syndrome ? ### Response: Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Arts syndrome ? ### Response: What are the signs and symptoms of Arts syndrome? Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability.

Below is an instruction from Human. Write a response. ### Instruction: What causes Arts syndrome ? ### Response: What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.

Below is an instruction from Human. Write a response. ### Instruction: Is Arts syndrome inherited ? ### Response: How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fibrolamellar carcinoma ? ### Response: Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.

Below is an instruction from Human. Write a response. ### Instruction: What causes Fibrolamellar carcinoma ? ### Response: What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Fibrolamellar carcinoma ? ### Response: How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fibrolamellar carcinoma ? ### Response: How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leigh syndrome, French Canadian type ? ### Response: What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian 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 Kenny-Caffey syndrome type 1 ? ### Response: What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey syndrome 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 Vertebral fusion posterior lumbosacral blepharoptosis ? ### Response: What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. 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) Split hand split foot nystagmus ? ### Response: Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Split hand split foot nystagmus ? ### Response: What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits.

Below is an instruction from Human. Write a response. ### Instruction: Is Split hand split foot nystagmus inherited ? ### Response: How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Beardwell syndrome ? ### Response: What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell 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 deafness with vitiligo and achalasia ? ### Response: Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature, vitiligo, muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital deafness with vitiligo and achalasia ? ### Response: What are the signs and symptoms of Congenital deafness with vitiligo and achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital deafness with vitiligo and achalasia. 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 Camptodactyly arthropathy coxa vara pericarditis syndrome ? ### Response: What are the signs and symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly arthropathy coxa vara pericarditis 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) Situs inversus ? ### Response: Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Situs inversus ? ### Response: What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal.