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Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemoglobin E disease ? ### Response: Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hemoglobin E disease ? ### Response: What are the signs and symptoms of hemoglobin E disease? Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition. When a person inherits a gene mutation from one of their parents, they are said to be a carrier or have hemoglobin trait.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Hemoglobin E disease ? ### Response: How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemoglobin E disease ? ### Response: How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Juvenile temporal arteritis ? ### Response: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple).

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Ring chromosome 20 ? ### Response: Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Ring chromosome 20 ? ### Response: How might ring chromosome 20 be treated? Treatment of ring chromosome 20 is typically focused on management of seizures. The seizures associated with ring chromosome 20 do not generally respond well to medications. The treatment that is successful varies from person to person.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of HELLP syndrome ? ### Response: What are the signs and symptoms of HELLP syndrome? Women with HELLP syndrome may feel tired, have pain in the upper right part of the belly, have bad headaches, and nausea or vomiting. They may also experience swelling, especially of the face and hands. Vision problems may also be observed.

Below is an instruction from Human. Write a response. ### Instruction: What causes HELLP syndrome ? ### Response: What causes HELLP syndrome? Doctors are still unclear on what exactly causes HELLP syndrome. Although it is more common in women who have preeclampsia or pregnancy induced hypertension (high blood pressure), there are still a number of women who get it without previously showing signs of preeclampsia.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Charcot-Marie-Tooth disease type 2D ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2D. 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 Nevi flammei, familial multiple ? ### Response: What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. 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) Transient neonatal diabetes mellitus ? ### Response: Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Transient neonatal diabetes mellitus ? ### Response: What are the signs and symptoms of Transient neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient neonatal diabetes mellitus. 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) Schwartz Jampel syndrome type 1 ? ### Response: Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Schwartz Jampel syndrome type 1 ? ### Response: What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem "fixed" in the same expression with puckered lips due to weakening and stiffening of the facial muscles.

Below is an instruction from Human. Write a response. ### Instruction: What causes Schwartz Jampel syndrome type 1 ? ### Response: What causes Schwartz Jampel syndrome type 1? Schwartz Jampel syndrome type 1 (SJS1) is caused by mutations in the HSPG2 gene. The HSPG2 gene codes for the protein perlecan, which is found in muscle and cartilage. Although the role of the perlecan protein is not fully understood, it is thought to play an essential role in many biological activities such as cell signaling and cellular structure.

Below is an instruction from Human. Write a response. ### Instruction: Is Schwartz Jampel syndrome type 1 inherited ? ### Response: How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Schwartz Jampel syndrome type 1 ? ### Response: How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pachyonychia congenita ? ### Response: Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped. Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands (palmoplantar keratoderma).

Below is an instruction from Human. Write a response. ### Instruction: What causes Pachyonychia congenita ? ### Response: What causes pachyonychia congenita? Pachyonychia congenita (PC) is caused by changes (mutations) in one of five genes: KRT6A, KRT6B, KRT6C, KRT16, and KRT17. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails.

Below is an instruction from Human. Write a response. ### Instruction: Is Pachyonychia congenita inherited ? ### Response: How is pachyonychia congenita inherited? Pachyonychia congenita (PC) 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: How to diagnose Pachyonychia congenita ? ### Response: Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. 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 Pachyonychia congenita ? ### Response: How might pachyonychia congenita be treated? There is no cure for pachyonychia congenita (PC). Current management is focused on relief of pain and other symptoms; hygienic grooming practices (such as trimming the nails and calluses); and treatment of infections when necessary.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Lipedema ? ### Response: Lipedema is a syndrome characterized by symmetric enlargement of the legs due to deposits of fat beneath the skin, which is often painful. It is a common condition affecting up to 11% of women The underlying cause is currently unknown; however many people with lipedema have a family history of similarly enlarged legs.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Lipedema ? ### Response: What are the signs and symptoms of lipedema? Signs and symptoms of lipedema include enlarged legs extending from the buttocks to the ankles. This enlargement can be painful. The size of the legs are typically out of proportion to the upper body (despite the individuals BMI).

Below is an instruction from Human. Write a response. ### Instruction: What causes Lipedema ? ### Response: What causes lipedema? The cause of lipedema is unknown. Hormones appear to play a role, especially considering that the condition occurs almost entirely in females and often develops after puberty or other periods of hormone change (e.g., pregnancy, menopause).

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Lipedema ? ### Response: How might lipedema be treated? Treatment options for lipedema are limited. A number of therapies that have been tried with minimal success include dieting, diuretics, leg elevation, and compression. Invasive treatments such as lipectomy or liposuction are not recommended because they risk causing damage to the lymphatic system.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hairy elbows ? ### Response: What are the signs and symptoms of Hairy elbows? The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy elbows. 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 Spondyloepiphyseal dysplasia Maroteaux type ? ### Response: What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux 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 Spondylometaphyseal dysplasia with dentinogenesis imperfecta ? ### Response: What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. 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) Hereditary neuralgic amyotrophy ? ### Response: Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms. Attacks may be spontaneous or triggered (e.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Hereditary neuralgic amyotrophy ? ### Response: What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. 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 Paine syndrome ? ### Response: What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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) Isodicentric chromosome 15 syndrome ? ### Response: Isodicentric chromosome 15 syndrome is a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Trismus-pseudocamptodactyly syndrome ? ### Response: Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Trismus-pseudocamptodactyly syndrome ? ### Response: How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ? ### Response: What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara 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) Factor V Leiden thrombophilia ? ### Response: Factor V Leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a critical role in the normal formation of blood clots in response to an injury.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Factor V Leiden thrombophilia ? ### Response: What are the signs and symptoms of factor V Leiden thrombophilia? Individuals affected by factor V Leiden thrombophilia have an increased risk of developing blood clots. The severity of factor V Leiden thrombophilia is extremely variable. Many individuals with the factor V Leiden allele never develop a blood clot.

Below is an instruction from Human. Write a response. ### Instruction: What causes Factor V Leiden thrombophilia ? ### Response: What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins.

Below is an instruction from Human. Write a response. ### Instruction: Is Factor V Leiden thrombophilia inherited ? ### Response: How is factor V Leiden inherited? Factor V Leiden is a genetic condition and can be inherited from a parent. It is important to understand that each person inherits two copies of every gene, one from their mother and the other copy from their father. Individuals who inherit one copy of the factor V Leiden mutation from a parent are called heterozygotes.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Factor V Leiden thrombophilia ? ### Response: How is factor V Leiden thrombophilia diagnosed? No clinical features (signs and/or symptoms) are specific for factor V Leiden thrombophilia. The diagnosis of factor V Leiden thrombophilia requires a coagulation screening test or DNA analysis of F5, the gene for factor V, to identify the specific mutation that causes this condition.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Factor V Leiden thrombophilia ? ### Response: How might factor V Leiden be treated? The management of individuals with factor V Leiden depends on the clinical circumstances. People with factor V Leiden who have had a deep venous thrombosis (DVT) or pulmonary embolism (PE) are usually treated with blood thinners, or anticoagulants.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Cleft hand absent tibia ? ### Response: What are the signs and symptoms of Cleft hand absent tibia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft hand absent tibia. 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) Loeys-Dietz syndrome ? ### Response: Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity).

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Loeys-Dietz syndrome ? ### Response: What are the signs and symptoms of Loeys-Dietz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz 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 Ovarian sex cord tumor with annular tubules ? ### Response: What causes an ovarian sex cord tumor with annular tubules? Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Orofaciodigital syndrome 5 ? ### Response: What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 5. 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 Michels syndrome ? ### Response: What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels 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 8q12 microduplication syndrome ? ### Response: What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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) Chromosome 7q deletion ? ### Response: Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. 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 is (are) Membranous nephropathy ? ### Response: Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Leri pleonosteosis ? ### Response: What are the signs and symptoms of Leri pleonosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri pleonosteosis. 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) Renal nutcracker syndrome ? ### Response: Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Renal nutcracker syndrome ? ### Response: What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms.

Below is an instruction from Human. Write a response. ### Instruction: Is Renal nutcracker syndrome inherited ? ### Response: Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Renal nutcracker syndrome ? ### Response: How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Renal nutcracker syndrome ? ### Response: How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Familial erythrocytosis, 1 ? ### Response: What are the signs and symptoms of Familial erythrocytosis, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythrocytosis, 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 Hereditary mucoepithelial dysplasia ? ### Response: What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial 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 Charcot-Marie-Tooth disease type 2F ? ### Response: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2F? The subtypes of Charcot-Marie-Tooth type 2, including type 2F, have similar signs and symptoms. Affected individuals usually become symptomatic between the ages of 5 and 25, though onset can range from infancy to after the third decade of life.

Below is an instruction from Human. Write a response. ### Instruction: What causes Charcot-Marie-Tooth disease type 2F ? ### Response: What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Charcot-Marie-Tooth disease type 2F ? ### Response: Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Charcot-Marie-Tooth disease type 2F ? ### Response: How might Charcot-Marie-Tooth disease type 2F be treated? Treatment for Charcot-Marie-Tooth disease type 2 mainly focuses on the specific symptoms present. Affected individuals are often managed by a team of various specialists that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pachygyria with mental retardation and seizures ? ### Response: What are the signs and symptoms of Pachygyria with mental retardation and seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. 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 Infundibulopelvic dysgenesis ? ### Response: What are the signs and symptoms of Infundibulopelvic dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infundibulopelvic 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 Ossicular Malformations, familial ? ### Response: What are the signs and symptoms of Ossicular Malformations, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Ossicular Malformations, familial. 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 STING-associated vasculopathy with onset in infancy ? ### Response: What are the signs and symptoms of STING-associated vasculopathy with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for STING-associated vasculopathy with onset in infancy. 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) Metachromatic leukodystrophy ? ### Response: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Metachromatic leukodystrophy ? ### Response: What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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 Metachromatic leukodystrophy inherited ? ### Response: How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent.

Below is an instruction from Human. Write a response. ### Instruction: How to diagnose Metachromatic leukodystrophy ? ### Response: Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Pili torti ? ### Response: Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Pili torti ? ### Response: What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. 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 Pili torti ? ### Response: Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Tucker syndrome ? ### Response: What are the signs and symptoms of Tucker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tucker 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 Martinez Monasterio Pinheiro syndrome ? ### Response: What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro 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 Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ? ### Response: What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. 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) Liddle syndrome ? ### Response: Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Liddle syndrome ? ### Response: What are the signs and symptoms of Liddle syndrome? Liddle syndrome is chiefly characterized by severe, early-onset hypertension (high blood pressure). In most affected individuals the condition becomes apparent at a young age, but some are not diagnosed until well into adulthood.

Below is an instruction from Human. Write a response. ### Instruction: What causes Liddle syndrome ? ### Response: What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs).

Below is an instruction from Human. Write a response. ### Instruction: Is Liddle syndrome inherited ? ### Response: How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an affected individual.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Liddle syndrome ? ### Response: How might Liddle syndrome be treated? Treatment for Liddle syndrome includes following a low sodium diet as well as taking potassium-sparing diuretics, which reduce blood pressure and correct hypokalemia and metabolic alkalosis. Conventional anti-hypertensive therapies are not effective for this condition.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Hemangioendothelioma ? ### Response: The term hemangioendothelioma describes several types of vascular neosplasms and includes both non-cancerous (benign) and cancerous (malignant) growths. The term has also been applied to those that show "borderline" behavior, intermediate between entirely benign hemangiomas and highly malignant angiosarcomas.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Hemangioendothelioma ? ### Response: How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Fetal and neonatal alloimmune thrombocytopenia ? ### Response: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those present in the mother.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ? ### Response: How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Congenital diaphragmatic hernia ? ### Response: Congenital diaphragmatic hernia (CDH) is the lack of development before birth of all or part of the diaphragm, which normally separates the organs in the abdomen from those in the chest cavity. It can range in severity from a thinned area in the diaphragm to its complete absence.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Congenital diaphragmatic hernia ? ### Response: What are the signs and symptoms of Congenital diaphragmatic hernia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital diaphragmatic hernia. 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 diaphragmatic hernia ? ### Response: What causes congenital diaphragmatic hernia? Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or as part of a complex but nonsyndromic set of findings. Currently, about 15%-20% of individuals with CDH have an identifiable cause for their diaphragm defect.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Plasmablastic lymphoma ? ### Response: Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; however, it is often associated with suppression of the immune system (i.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Familial stomach cancer ? ### Response: Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer.

Below is an instruction from Human. Write a response. ### Instruction: What is (are) Neuronal ceroid lipofuscinosis ? ### Response: Neuronal ceroid lipofuscinosis (NCL) refers to a group of conditions that affect the nervous system. Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. Although the NCLs were historically classified according to their age of onset and clinical features, the most recent classification system is primarily based on their underlying genetic cause.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Neuronal ceroid lipofuscinosis ? ### Response: What are the signs and symptoms of Neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis. 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) Oral lichen planus ? ### Response: Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth.

Below is an instruction from Human. Write a response. ### Instruction: What are the treatments for Oral lichen planus ? ### Response: How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines, diuretics such as chlorothiazide, and many others.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of PHAVER syndrome ? ### Response: What are the signs and symptoms of PHAVER syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for PHAVER 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) Warm antibody hemolytic anemia ? ### Response: Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatigue, difficulty breathing, jaundice and dark urine.

Below is an instruction from Human. Write a response. ### Instruction: What are the symptoms of Warm antibody hemolytic anemia ? ### Response: What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. 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 Hyperinsulinemic hypoglycemia familial 2 ? ### Response: What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 2. If the information is available, the table below includes how often the symptom is seen in people with this condition.