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medical_llama3_instruct_dataset

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input stringlengths 16 191	output stringlengths 6 29k	instruction stringclasses 1 value	prompt stringlengths 160 29.2k
What causes Marden-Walker syndrome ?	What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What causes Marden-Walker syndrome ? assistant What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases.
Is Marden-Walker syndrome inherited ?	Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: Is Marden-Walker syndrome inherited ? assistant Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported.
What are the treatments for Marden-Walker syndrome ?	How might Marden-Walker syndrome be treated? Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a physical medicine specialist. Special diets and feeding techniques may be of benefit. Early childhood intervention services may help with developmental problems. Other treatments are dependent upon the specific symptoms present in each patient.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Marden-Walker syndrome ? assistant How might Marden-Walker syndrome be treated? Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a physical medicine specialist. Special diets and feeding techniques may be of benefit. Early childhood intervention services may help with developmental problems. Other treatments are dependent upon the specific symptoms present in each patient.
What is (are) Aberrant subclavian artery ?	Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Aberrant subclavian artery ? assistant Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.
What is (are) Alopecia universalis ?	Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Alopecia universalis ? assistant Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AU. There is currently no cure for AU, but sometimes hair regrowth occurs on it's own, even after many years.
What are the symptoms of Alopecia universalis ?	What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. In some cases, AU can be associated with other conditions such as atopic dermatitis, thyroid disorders, and/or nail changes (such as pitting). Anxiety, personality disorders, depression, and paranoid disorders are more common in people with different forms of alopecia areata. The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia universalis. 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. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Alopecia universalis ? assistant What are the signs and symptoms of Alopecia universalis? Alopecia universalis (AU) is characterized by the complete loss of hair on both the scalp and body. Most people with AU do not have other signs and symptoms, but some may experience a burning sensation or itching on affected areas. In some cases, AU can be associated with other conditions such as atopic dermatitis, thyroid disorders, and/or nail changes (such as pitting). Anxiety, personality disorders, depression, and paranoid disorders are more common in people with different forms of alopecia areata. The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia universalis. 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. Signs and Symptoms Approximate number of patients (when available) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Alopecia universalis ?	What causes alopecia universalis? The exact underlying cause of alopecia universalis (AU) is not currently known. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. AA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Genetic studies have found that AA and AU are associated with several immune-related genes; however, they are likely complex disorders caused by the interaction of multiple genetic and environmental factors. This means that even if someone inherits a genetic predisposition to the condition, they may not become affected unless something in the environment triggers the onset of the condition.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What causes Alopecia universalis ? assistant What causes alopecia universalis? The exact underlying cause of alopecia universalis (AU) is not currently known. AU is an advanced form of alopecia areata (AA), a condition that leads to round patches of hair loss. AA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles. Genetic studies have found that AA and AU are associated with several immune-related genes; however, they are likely complex disorders caused by the interaction of multiple genetic and environmental factors. This means that even if someone inherits a genetic predisposition to the condition, they may not become affected unless something in the environment triggers the onset of the condition.
Is Alopecia universalis inherited ?	Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: Is Alopecia universalis inherited ? assistant Is alopecia universalis inherited? Alopecia universalis is believed to be a multifactorial condition, which means it is caused by a combination of environmental influences and genetic predisposition. While a predisposition can be inherited and some affected people have a family history, the condition itself is not thought to be inherited.
How to diagnose Alopecia universalis ?	How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Alopecia universalis ? assistant How is alopecia universalis diagnosed? A diagnosis of alopecia universalis is usually based on the signs and symptoms present in each person. In rare cases, a scalp biopsy may be needed to confirm the diagnosis.
What are the treatments for Alopecia universalis ?	How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Alopecia universalis ? assistant How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.
What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 3 ?	What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. 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. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Anemia 12/14 Granulocytopenia 11/14 Autosomal recessive inheritance - Fever - Hemophagocytosis - Hepatosplenomegaly - Hypertriglyceridemia - Hypofibrinogenemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 3 ? assistant What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 3. 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. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Anemia 12/14 Granulocytopenia 11/14 Autosomal recessive inheritance - Fever - Hemophagocytosis - Hepatosplenomegaly - Hypertriglyceridemia - Hypofibrinogenemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Talipes equinovarus ?	Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct position and using a cast to keep it there. This process is done in small increments over a period of time. In severe cases, surgery may be needed.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Talipes equinovarus ? assistant Talipes equinovarus is a congenital (present from birth) condition where the foot turns inward and downward. The cause of this condition is not known, although it may be passed down through families in some cases. This condition occurs in about 1 out of every 1,000 births. Treatment may involve moving the foot into the correct position and using a cast to keep it there. This process is done in small increments over a period of time. In severe cases, surgery may be needed.
What are the symptoms of Talipes equinovarus ?	What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. 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. Signs and Symptoms Approximate number of patients (when available) Foot polydactyly 5% Patellar hypoplasia 5% Autosomal dominant inheritance - Incomplete penetrance - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Talipes equinovarus ? assistant What are the signs and symptoms of Talipes equinovarus? The Human Phenotype Ontology provides the following list of signs and symptoms for Talipes equinovarus. 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. Signs and Symptoms Approximate number of patients (when available) Foot polydactyly 5% Patellar hypoplasia 5% Autosomal dominant inheritance - Incomplete penetrance - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Dystrophic epidermolysis bullosa ?	Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Dystrophic epidermolysis bullosa ? assistant Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.
What are the symptoms of Dystrophic epidermolysis bullosa ?	What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. 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. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Cheilitis 90% Abnormality of dental enamel 50% Abnormality of the hand 50% Abnormality of the larynx 50% Anonychia 50% Camptodactyly of toe 50% Carious teeth 50% Constipation 50% Feeding difficulties in infancy 50% Finger syndactyly 50% Furrowed tongue 50% Gangrene 50% Hypopigmented skin patches 50% Skin ulcer 50% Toe syndactyly 50% Tracheoesophageal fistula 50% Abnormality of the preputium 7.5% Anemia 7.5% Atypical scarring of skin 7.5% Blepharitis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Corneal erosion 7.5% Eczema 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Immunologic hypersensitivity 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Nephrotic syndrome 7.5% Otitis media 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dystrophic epidermolysis bullosa ? assistant What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. 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. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Cheilitis 90% Abnormality of dental enamel 50% Abnormality of the hand 50% Abnormality of the larynx 50% Anonychia 50% Camptodactyly of toe 50% Carious teeth 50% Constipation 50% Feeding difficulties in infancy 50% Finger syndactyly 50% Furrowed tongue 50% Gangrene 50% Hypopigmented skin patches 50% Skin ulcer 50% Toe syndactyly 50% Tracheoesophageal fistula 50% Abnormality of the preputium 7.5% Anemia 7.5% Atypical scarring of skin 7.5% Blepharitis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Corneal erosion 7.5% Eczema 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Immunologic hypersensitivity 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Nephrotic syndrome 7.5% Otitis media 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Ureteral stenosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ?	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. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis - Arthropathy - Autosomal recessive inheritance - Congenital finger flexion contractures - Constrictive pericarditis - Coxa vara - Flattened metacarpal heads - Flattened metatarsal heads - Generalized morning stiffness - Synovial hypertrophy - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Camptodactyly arthropathy coxa vara pericarditis syndrome ? assistant 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. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthritis - Arthropathy - Autosomal recessive inheritance - Congenital finger flexion contractures - Constrictive pericarditis - Coxa vara - Flattened metacarpal heads - Flattened metatarsal heads - Generalized morning stiffness - Synovial hypertrophy - Wrist flexion contracture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ?	What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. 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. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dandy-Walker malformation with postaxial polydactyly ? assistant What are the signs and symptoms of Dandy-Walker malformation with postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with postaxial polydactyly. 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. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Postaxial hand polydactyly 90% Agenesis of cerebellar vermis - Aortic valve stenosis - Autosomal recessive inheritance - Chorioretinal atrophy - Cranial nerve paralysis - Depressed nasal bridge - Dilated fourth ventricle - Dolichocephaly - Elevated imprint of the transverse sinuses - Frontal bossing - Hydrocephalus - Low-set ears - Macrocephaly - Microretrognathia - Nystagmus - Partial absence of cerebellar vermis - Patent ductus arteriosus - Posterior embryotoxon - Posterior fossa cyst at the fourth ventricle - Small palpebral fissure - Thinning and bulging of the posterior fossa bones - Truncal ataxia - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Tarsal tunnel syndrome ?	Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Tarsal tunnel syndrome ? assistant Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.
What are the symptoms of Tarsal tunnel syndrome ?	What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person stands, walks, or wears a particular type of shoe. Pain usually worsens during walking and is relieved by rest.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Tarsal tunnel syndrome ? assistant What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person stands, walks, or wears a particular type of shoe. Pain usually worsens during walking and is relieved by rest.
What causes Tarsal tunnel syndrome ?	What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space within the tarsal tunnel region may cause pressure on the nerve and subsequent symptoms. Examples include tendonitis, hematoma, tumor, varicose veins, and lower extremity edema.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What causes Tarsal tunnel syndrome ? assistant What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space within the tarsal tunnel region may cause pressure on the nerve and subsequent symptoms. Examples include tendonitis, hematoma, tumor, varicose veins, and lower extremity edema.
What are the treatments for Tarsal tunnel syndrome ?	What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Tarsal tunnel syndrome ? assistant What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ?	What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. 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. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E ? assistant What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type E? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type E. 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. Signs and Symptoms Approximate number of patients (when available) Stage 5 chronic kidney disease 5% Areflexia - Autosomal dominant inheritance - Axonal loss - Distal lower limb amyotrophy - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Focal segmental glomerulosclerosis - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Onion bulb formation - Pes cavus - Progressive - Proteinuria - Split hand - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Proteus-like syndrome ?	Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Proteus-like syndrome ? assistant Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ?	What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. 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. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Hypoplasia of the corpus callosum - Microcephaly - Preaxial hand polydactyly - Proptosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate ? assistant What are the signs and symptoms of Microcephaly, corpus callosum dysgenesis and cleft lip-palate? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, corpus callosum dysgenesis and cleft lip-palate. 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. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Hypoplasia of the corpus callosum - Microcephaly - Preaxial hand polydactyly - Proptosis - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ?	Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ? assistant Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain. Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems. These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better. Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum. H-ABC is is caused by a mutation in the TUBB4A gene.
What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ?	What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. 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. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ? assistant What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. 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. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What causes Hypomyelination with atrophy of basal ganglia and cerebellum ?	What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What causes Hypomyelination with atrophy of basal ganglia and cerebellum ? assistant What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent.
How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ?	How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain. Myelin usually forms a protective covering around brain cells. In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ? assistant How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain. Myelin usually forms a protective covering around brain cells. In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.
What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ?	How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa. Another patient showed improvement in movement symptoms after taking folinic acid supplements.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ? assistant How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa. Another patient showed improvement in movement symptoms after taking folinic acid supplements.
What are the symptoms of Anterior segment mesenchymal dysgenesis ?	What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. 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. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Anterior segment mesenchymal dysgenesis ? assistant What are the signs and symptoms of Anterior segment mesenchymal dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Anterior segment mesenchymal dysgenesis. 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. Signs and Symptoms Approximate number of patients (when available) Posterior polar cataract 47/47 Anterior segment dysgenesis 7/16 Autosomal dominant inheritance - Opacification of the corneal stroma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ?	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. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Coronal craniosynostosis - Flat face - Genu valgum - Hearing impairment - High forehead - Narrow mouth - Patellar dislocation - Proptosis - Short foot - Short metacarpal - Short nose - Short stature - Short toe - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ? assistant 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. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Brachydactyly syndrome - Coronal craniosynostosis - Flat face - Genu valgum - Hearing impairment - High forehead - Narrow mouth - Patellar dislocation - Proptosis - Short foot - Short metacarpal - Short nose - Short stature - Short toe - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Bartter syndrome antenatal type 1 ?	What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 1. 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. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Hyposthenuria - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Low-to-normal blood pressure - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polyhydramnios - Polyuria - Premature birth - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Bartter syndrome antenatal type 1 ? assistant What are the signs and symptoms of Bartter syndrome antenatal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 1. 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. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Hyposthenuria - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Low-to-normal blood pressure - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polyhydramnios - Polyuria - Premature birth - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Minicore myopathy with external ophthalmoplegia ?	What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. 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. Signs and Symptoms Approximate number of patients (when available) Nemaline bodies 5% Areflexia - Autosomal recessive inheritance - Axial muscle weakness - Decreased fetal movement - Difficulty running - Exercise-induced myalgia - External ophthalmoplegia - Facial palsy - Feeding difficulties in infancy - Generalized muscle weakness - High palate - Hydrops fetalis - Increased connective tissue - Increased variability in muscle fiber diameter - Ligamentous laxity - Motor delay - Muscular dystrophy - Myopathic facies - Neonatal hypotonia - Neonatal onset - Polyhydramnios - Proximal muscle weakness - Ptosis - Pulmonary hypoplasia - Recurrent respiratory infections - Respiratory insufficiency - Scoliosis - Skeletal muscle atrophy - Type 1 and type 2 muscle fiber minicore regions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Minicore myopathy with external ophthalmoplegia ? assistant What are the signs and symptoms of Minicore myopathy with external ophthalmoplegia? The Human Phenotype Ontology provides the following list of signs and symptoms for Minicore myopathy with external ophthalmoplegia. 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. Signs and Symptoms Approximate number of patients (when available) Nemaline bodies 5% Areflexia - Autosomal recessive inheritance - Axial muscle weakness - Decreased fetal movement - Difficulty running - Exercise-induced myalgia - External ophthalmoplegia - Facial palsy - Feeding difficulties in infancy - Generalized muscle weakness - High palate - Hydrops fetalis - Increased connective tissue - Increased variability in muscle fiber diameter - Ligamentous laxity - Motor delay - Muscular dystrophy - Myopathic facies - Neonatal hypotonia - Neonatal onset - Polyhydramnios - Proximal muscle weakness - Ptosis - Pulmonary hypoplasia - Recurrent respiratory infections - Respiratory insufficiency - Scoliosis - Skeletal muscle atrophy - Type 1 and type 2 muscle fiber minicore regions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Dystonia 5, Dopa-responsive type ?	What are the signs and symptoms of Dystonia 5, Dopa-responsive type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 5, Dopa-responsive type. 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. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance 5% Autosomal dominant inheritance - Babinski sign - Childhood onset - Gait ataxia - Hyperreflexia - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Postural tremor - Scoliosis - Talipes equinovarus - Torticollis - Transient hyperphenylalaninemia - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Dystonia 5, Dopa-responsive type ? assistant What are the signs and symptoms of Dystonia 5, Dopa-responsive type? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 5, Dopa-responsive type. 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. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance 5% Autosomal dominant inheritance - Babinski sign - Childhood onset - Gait ataxia - Hyperreflexia - Parkinsonism - Parkinsonism with favorable response to dopaminergic medication - Pes cavus - Phenotypic variability - Postural tremor - Scoliosis - Talipes equinovarus - Torticollis - Transient hyperphenylalaninemia - Writer's cramp - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Urocanase deficiency ?	What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase deficiency. 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. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Urocanase deficiency ? assistant What are the signs and symptoms of Urocanase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase deficiency. 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. Signs and Symptoms Approximate number of patients (when available) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Single upper central incisor ?	What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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. Signs and Symptoms Approximate number of patients (when available) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Single upper central incisor ? assistant What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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. Signs and Symptoms Approximate number of patients (when available) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Gaucher disease ?	Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What is (are) Gaucher disease ? assistant Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene.
What are the symptoms of Gaucher disease ?	What are the signs and symptoms of Gaucher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Gaucher disease. 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. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Arthralgia 50% Aseptic necrosis 50% Behavioral abnormality 50% Bone pain 50% Delayed skeletal maturation 50% Developmental regression 50% Feeding difficulties in infancy 50% Incoordination 50% Involuntary movements 50% Oculomotor apraxia 50% Recurrent fractures 50% Reduced bone mineral density 50% Seizures 50% Strabismus 50% Thrombocytopenia 50% Abnormality of coagulation 7.5% Abnormality of extrapyramidal motor function 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the macula 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Bone marrow hypocellularity 7.5% Cirrhosis 7.5% Cranial nerve paralysis 7.5% Gingival bleeding 7.5% Hearing impairment 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hydrocephalus 7.5% Hydrops fetalis 7.5% Ichthyosis 7.5% Increased antibody level in blood 7.5% Increased bone mineral density 7.5% Limitation of joint mobility 7.5% Mitral stenosis 7.5% Muscular hypotonia 7.5% Opacification of the corneal stroma 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Retinopathy 7.5% Short stature 7.5% Tremor 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Gaucher disease ? assistant What are the signs and symptoms of Gaucher disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Gaucher disease. 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. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Arthralgia 50% Aseptic necrosis 50% Behavioral abnormality 50% Bone pain 50% Delayed skeletal maturation 50% Developmental regression 50% Feeding difficulties in infancy 50% Incoordination 50% Involuntary movements 50% Oculomotor apraxia 50% Recurrent fractures 50% Reduced bone mineral density 50% Seizures 50% Strabismus 50% Thrombocytopenia 50% Abnormality of coagulation 7.5% Abnormality of extrapyramidal motor function 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the aortic valve 7.5% Abnormality of the macula 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Bone marrow hypocellularity 7.5% Cirrhosis 7.5% Cranial nerve paralysis 7.5% Gingival bleeding 7.5% Hearing impairment 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hydrocephalus 7.5% Hydrops fetalis 7.5% Ichthyosis 7.5% Increased antibody level in blood 7.5% Increased bone mineral density 7.5% Limitation of joint mobility 7.5% Mitral stenosis 7.5% Muscular hypotonia 7.5% Opacification of the corneal stroma 7.5% Osteoarthritis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Proteinuria 7.5% Pulmonary fibrosis 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Retinopathy 7.5% Short stature 7.5% Tremor 7.5% Ventriculomegaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Legius syndrome ?	What are the signs and symptoms of Legius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Legius syndrome. 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. Signs and Symptoms Approximate number of patients (when available) Abnormality of the sternum 5% Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Epicanthus - High palate - Hypertelorism - Low posterior hairline - Low-set, posteriorly rotated ears - Macrocephaly - Multiple lipomas - Muscular hypotonia - Neurofibromas - Ptosis - Short neck - Specific learning disability - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Legius syndrome ? assistant What are the signs and symptoms of Legius syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Legius syndrome. 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. Signs and Symptoms Approximate number of patients (when available) Abnormality of the sternum 5% Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Axillary freckling - Cafe-au-lait spot - Epicanthus - High palate - Hypertelorism - Low posterior hairline - Low-set, posteriorly rotated ears - Macrocephaly - Multiple lipomas - Muscular hypotonia - Neurofibromas - Ptosis - Short neck - Specific learning disability - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Loeys-Dietz syndrome type 2 ?	What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 2. 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. Signs and Symptoms Approximate number of patients (when available) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.	Answer the question truthfully, you are a medical professional.	system Answer the question truthfully, you are a medical professional. user This is the question: What are the symptoms of Loeys-Dietz syndrome type 2 ? assistant What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 2. 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. Signs and Symptoms Approximate number of patients (when available) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.