Input: What are the symptoms of Pseudoainhum ?

Output: What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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) Amniotic constriction ring - Autosomal dominant inheritance - 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. </s>


Input: What is (are) Schindler disease type 1 ?

Output: Schindler disease is an inherited condition that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired. As the condition progresses, affected individuals develop blindness and seizures, and eventually lose awareness of their surroundings and become unresponsive. People with this form of the condition usually don't survive past early childhood. Schindler disease type 1 is caused by mutations in the NAGA gene. The condition follows an autosomal recessive pattern of inheritance. </s>


Input: What are the symptoms of Schindler disease type 1 ?

Output: What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease 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) Abnormal pyramidal signs 90% Autism 90% Cataract 90% Cognitive impairment 90% Developmental regression 90% Hearing impairment 90% Hypertonia 90% Muscle weakness 90% Seizures 90% Strabismus 90% Visual impairment 90% Hemiplegia/hemiparesis 50% Hepatomegaly 50% Hyperkeratosis 50% Hypertrophic cardiomyopathy 50% Involuntary movements 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Telangiectasia of the skin 50% Vertigo 50% Aplasia/Hypoplasia of the cerebellum 7.5% Lymphedema 7.5% Paresthesia 7.5% Autosomal recessive inheritance - Cortical visual impairment - Generalized amyotrophy - Hyperreflexia - Increased urinary O-linked sialopeptides - Infantile onset - Intellectual disability, severe - Myoclonus - Osteopenia - Spasticity - 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. </s>


Input: What causes Schindler disease type 1 ?

Output: What causes Schindler disease type 1? Schindler disease type 1 is caused by mutations in the NAGA gene. This gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase.This enzyme works in the lysosomes  (compartments within cells that digest and recycle materials) to help break down complexes called glycoproteins and glycolipids (sugar molecules attached to certain proteins and fats). More specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycoliipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease type 1. </s>


Input: Is Schindler disease type 1 inherited ?

Output: How is Schindler disease type 1 inherited? Schindler disease type 1 is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically so not show signs and symptoms of the condition. </s>


Input: What are the symptoms of Dyssynergia cerebellaris myoclonica ?

Output: What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. 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) Generalized seizures 7.5% Abnormality of the dentate nucleus - Abnormality of the mitochondrion - Ataxia - Autosomal dominant inheritance - Intention tremor - Myoclonus - Pallidal degeneration - Ragged-red muscle fibers - 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. </s>


Input: What are the symptoms of Oral submucous fibrosis ?

Output: What are the signs and symptoms of Oral submucous fibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oral submucous fibrosis. 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 oral cavity 90% Abnormality of the pharynx 90% Cheilitis 90% Trismus 90% Flexion contracture 50% 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. </s>


Input: What is (are) Biotinidase deficiency ?

Output: Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed. </s>


Input: What are the symptoms of Biotinidase deficiency ?

Output: What are the signs and symptoms of Biotinidase deficiency? The signs and symptoms of biotinidase deficiency typically appear within the first few months of life, but the age of onset varies. Children with profound biotinidase deficiency, the more severe form of the condition, may have seizures, weak muscle tone (hypotonia), breathing problems, and delayed development. If left untreated, the disorder can lead to hearing loss, eye abnormalities and loss of vision, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. Immediate treatment and lifelong management with biotin supplements can prevent many of these complications. Partial biotinidase deficiency is a milder form of this condition. Affected children may experience hypotonia, skin rashes, and hair loss, but these problems may appear only during illness, infection, or other times of stress on the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Biotinidase 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) Muscular hypotonia 90% Seizures 90% Alopecia 50% Dry skin 50% Hearing impairment 50% Incoordination 50% Inflammatory abnormality of the eye 50% Optic atrophy 50% Skin rash 50% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Hypertonia 7.5% Muscle weakness 7.5% Myopia 7.5% Reduced consciousness/confusion 7.5% Respiratory insufficiency 7.5% Skin ulcer 7.5% Visual field defect 7.5% Apnea - Ataxia - Autosomal recessive inheritance - Conjunctivitis - Diarrhea - Diffuse cerebellar atrophy - Diffuse cerebral atrophy - Feeding difficulties in infancy - Hepatomegaly - Hyperammonemia - Lethargy - Metabolic ketoacidosis - Organic aciduria - Recurrent skin infections - Seborrheic dermatitis - Sensorineural hearing impairment - Splenomegaly - Tachypnea - Visual loss - 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. </s>


Input: What are the symptoms of Mesomelic dwarfism cleft palate camptodactyly ?

Output: What are the signs and symptoms of Mesomelic dwarfism cleft palate camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism cleft palate camptodactyly. 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 hip bone 90% Camptodactyly of finger 90% Cleft palate 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Abnormal form of the vertebral bodies 50% Abnormal lung lobation 50% Abnormality of epiphysis morphology 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Aplasia/Hypoplasia of the lungs 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Overfolded helix 50% Thin vermilion border 50% Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Mesomelic arm shortening - Mesomelic leg shortening - Retrognathia - 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. </s>


Input: What is (are) Ellis-Van Creveld syndrome ?

Output: Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. </s>


Input: What are the symptoms of Ellis-Van Creveld syndrome ?

Output: What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld 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 fingernails 90% Abnormality of the heart valves 90% Atria septal defect 90% Complete atrioventricular canal defect 90% Genu valgum 90% Hypoplastic toenails 90% Limb undergrowth 90% Narrow chest 90% Short distal phalanx of finger 90% Short thorax 90% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Intrauterine growth retardation 50% Microdontia 50% Situs inversus totalis 50% Strabismus 50% Ventricular septal defect 50% Abnormal hair quantity 7.5% Abnormality of bone marrow cell morphology 7.5% Abnormality of female internal genitalia 7.5% Acute leukemia 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Delayed eruption of teeth 7.5% Delayed skeletal maturation 7.5% Emphysema 7.5% Intellectual disability 7.5% Renal hypoplasia/aplasia 7.5% Synostosis of carpal bones 7.5% Thin vermilion border 7.5% Abnormality of the alveolar ridges - Acetabular spurs - Autosomal recessive inheritance - Capitate-hamate fusion - Cleft upper lip - Common atrium - Cone-shaped epiphyses of phalanges 2 to 5 - Dandy-Walker malformation - Ectodermal dysplasia - Epispadias - Horizontal ribs - Hypodontia - Hypoplastic iliac wing - Hypospadias - Nail dysplasia - Natal tooth - Neonatal short-limb short stature - Pectus carinatum - Postaxial foot polydactyly - Postaxial hand polydactyly - Short long bone - Short ribs - 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. </s>


Input: What is (are) Adenoid cystic carcinoma ?

Output: Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy. </s>


Input: What causes Adenoid cystic carcinoma ?

Output: What causes adenoid cystic carcinoma? The underlying cause of adenoid cystic carcinoma (ACC) is not yet known, and no strong genetic or environmental risk factors specific to ACC have been identified. Researchers believe that a combination of various genetic and environmental factors probably interact to ultimately cause a person to develop specific types of cancers. There is ongoing research to learn more about the many factors that contribute to the development of cancer. Cancer is at least partly due to acquired (not inherited) damage or changes to the DNA in certain cells. For example, various studies have shown that chromosomal abnormalities and genetic deletions are present in samples of ACC. However, these genetic abnormalities are present only in the cancer cells, not in the cells with the genetic material that is passed on to offspring (the egg and sperm cells). </s>


Input: Is Adenoid cystic carcinoma inherited ?

Output: Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors. </s>


Input: What is (are) Ornithine transcarbamylase deficiency ?

Output: Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed. </s>


Input: What are the symptoms of Ornithine transcarbamylase deficiency ?

Output: What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications from OTC deficiency may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. In some affected individuals, signs and symptoms of OTC deficiency may be less severe, and may not appear until later in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine transcarbamylase 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) Aminoaciduria 90% Hepatic failure 90% Hyperammonemia 90% Hypoglycemia 90% Pyloric stenosis 90% Splenomegaly 90% Stroke 5% Cerebral edema - Coma - Episodic ammonia intoxication - Episodic ataxia - Failure to thrive - Hyperglutaminemia - Intellectual disability - Irritability - Lethargy - Low plasma citrulline - Protein avoidance - Respiratory alkalosis - Seizures - Vomiting - X-linked recessive inheritance - 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. </s>


Input: What causes Ornithine transcarbamylase deficiency ?

Output: What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In OTC deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so OTC deficiency causes neurological problems as well as eventual damage to the liver. </s>


Input: Is Ornithine transcarbamylase deficiency inherited ?

Output: How is ornithine transcarbamylase (OTC) deficiency inherited? Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), mutations in both copies of the gene will cause the disorder. Some females with only one altered copy of the OTC gene also show signs and symptoms of OTC deficiency. </s>


Input: What are the symptoms of SCARF syndrome ?

Output: What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF 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 palate 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - X-linked recessive inheritance - 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. </s>


Input: What is (are) Mycetoma ?

Output: Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications. </s>


Input: What are the symptoms of Hirschsprung disease polydactyly heart disease ?

Output: What are the signs and symptoms of Hirschsprung disease polydactyly heart disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease polydactyly heart 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) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - 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. </s>


Input: What are the symptoms of Thyrotropin deficiency, isolated ?

Output: What are the signs and symptoms of Thyrotropin deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotropin deficiency, isolated. 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 fontanelles or cranial sutures 90% Abnormality of the liver 90% Abnormality of the tongue 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Coarse facial features 90% Constipation 90% Muscular hypotonia 90% Sleep disturbance 90% Umbilical hernia 90% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Congenital hypothyroidism - Depressed nasal bridge - Hoarse cry - Intellectual disability, progressive - Intellectual disability, severe - Macroglossia - Omphalocele - Severe postnatal growth retardation - Wide anterior fontanel - 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. </s>


Input: What are the symptoms of Van Buchem disease type 2 ?

Output: What are the signs and symptoms of Van Buchem disease type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Buchem disease 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) Autosomal dominant inheritance - Mandibular prognathia - Thickened calvaria - Thickened cortex of long bones - 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. </s>


Input: What are the symptoms of Maturity-onset diabetes of the young, type 7 ?

Output: What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. 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 dominant inheritance - Maturity-onset diabetes of the young - Type II diabetes mellitus - 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. </s>


Input: What are the symptoms of Dentin dysplasia, type 1 ?

Output: What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, 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) Microdontia 5% Taurodontia 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Dentinogenesis imperfecta limited to primary teeth - Obliteration of the pulp chamber - Periapical radiolucency - 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. </s>


Input: What is (are) Hypothalamic dysfunction ?

Output: Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. </s>


Input: What are the symptoms of Hypothalamic dysfunction ?

Output: What are the signs and symptoms of hypothalamic dysfunction? The signs and symptoms of hypothalamic dysfunction may vary from person to person depending on the specific hormones missing. You can read more by visiting the following link from MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001202.htm </s>


Input: What causes Hypothalamic dysfunction ?

Output: What causes hypothalamic dysfunction? Hypothalamic dysfunction may be caused by any of the following : Birth defects of the brain or hypothalamus (e.g. holoprosencephaly, septo-optic dysplasia) Genetic disorders (e.g. Prader-Willi syndrome, growth hormone deficiency) Eating disorders (e.g. anorexia, bulimia) Tumors (e.g. craniopharyngiomas, germinomas, meningiomas, gliomas, ependymomas, and gliomas of the optic nerve) Head trauma (e.g. boxing and varied injuries, birth trauma) Bacterial, viral, or fungal infections Autoimmune disorders (e.g. sarcoidosis) Malnutrition Cranial radiation Surgery Too much iron In some cases of hypothalamic dysfunction, the cause is unknown; these cases are referred to as having idiopathic hypothalamic dysfunction. </s>


Input: What are the treatments for Hypothalamic dysfunction ?

Output: How might hypothalamic dysfunction be treated? Treatment is based on the specific cause of the hypothalamic dysfunction. For instance, if the condition is caused by a tumor, radiation and/or surgery may be warranted. If the hypothalamic dysfunction is caused by a hormone deficiency, the condition might be treated with hormone supplementation. If the cause is unknown, treatment may be symptomatic. To date, no successful treatment has been reported for idiopathic hypothalamic dysfunction. </s>


Input: What is (are) Camurati-Engelmann disease ?

Output: Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II.  Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. </s>


Input: What are the symptoms of Camurati-Engelmann disease ?

Output: What are the signs and symptoms of Camurati-Engelmann disease? People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty. In the most severe cases, the mandibula (jaw), vertebrae, thoracic cage, shoulder girdle, and carpal (hands, wrist) and tarsal (foot, ankle) bones are involved. Radiographically (on X-ray), the shafts of long bones show symmetric and progressive widening and malformation (diaphyseal dysplasia). Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate) features and hepatosplenomegaly are commonly associated with the disease. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. The Human Phenotype Ontology provides the following list of signs and symptoms for Camurati-Engelmann 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) Abnormality of the femur 90% Abnormality of the humerus 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Bone pain 90% Hyperostosis 90% Skeletal dysplasia 90% Abnormality of the metaphyses 50% Limitation of joint mobility 50% Skeletal muscle atrophy 50% Abnormal facial shape 7.5% Abnormality of the genital system 7.5% Abnormality of the hip bone 7.5% Abnormality of the urinary system 7.5% Acrocyanosis 7.5% Anemia 7.5% Anorexia 7.5% Carious teeth 7.5% Delayed eruption of teeth 7.5% Disproportionate tall stature 7.5% Facial palsy 7.5% Feeding difficulties in infancy 7.5% Frontal bossing 7.5% Genu valgum 7.5% Glaucoma 7.5% Hearing impairment 7.5% Hepatomegaly 7.5% Hyperlordosis 7.5% Hypertrophic cardiomyopathy 7.5% Incoordination 7.5% Kyphosis 7.5% Leukopenia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Pes planus 7.5% Proptosis 7.5% Scoliosis 7.5% Splenomegaly 7.5% Autosomal dominant inheritance - Bone marrow hypocellularity - Cortical thickening of long bone diaphyses - Decreased subcutaneous fat - Delayed puberty - Diaphyseal sclerosis - Diplopia - Easy fatigability - Headache - Juvenile onset - Limb pain - Mandibular prognathia - Optic nerve compression - Poor appetite - Sclerosis of skull base - Slender build - Waddling 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. </s>


Input: What causes Camurati-Engelmann disease ?

Output: What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown. </s>


Input: Is Camurati-Engelmann disease inherited ?

Output: How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. </s>


Input: How to diagnose Camurati-Engelmann disease ?

Output: How is Camurati-Engelmann disease diagnosed? Diagnosis of Camurati-Engelmann disease is based on physical examination and radiographic findings and can be confirmed by molecular genetic testing. TGFB1 is the only gene known to be associated with Camurati-Engelmann disease. Sequence analysis identifies mutations in TGFB1 in about 90% of affected individuals and is clinically available. Individuals with a family history of Camurati-Engelmann disease or symptoms associated with this condition may wish to consult with a genetics professional. Visit the  Genetic Resources section to learn how you can locate a genetics professional in your community. </s>


Input: What are the treatments for Camurati-Engelmann disease ?

Output: How might Camurati-Engelmann disease (CED) be treated? Several medical therapies including corticosteroids, biphosphonates, and non-steroidal anti-inflammatory drugs (NSAIDs) have been used to manage the symptoms of Camurati-Engelmann disease (CED). NSAIDs and bisphosphonates have not been proven to be effective for most people with CED. Corticosteroids may relieve some of the symptoms such as pain and weakness and can also improve gait and exercise tolerance, however corticosteroids have serious side effects with long term use. More recently, losartan, an angiotensin II type 1 receptor antagonist, has been reported to reduce limb pain and increase muscle strength in multiple case reports. However, the effectiveness of losartan needs more study to determine if it is effective for those with CED and without major side effects. Exercise programs when they are tolerated have also been found to be beneficial. Please note, case reports report the clinical findings associated with individual cases. It is important to keep in mind that the clinical findings documented in these case reports are based on specific individuals and may differ from one affected person to another. </s>


Input: What is (are) Periventricular heterotopia ?

Output: Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications. </s>


Input: What are the symptoms of Periventricular heterotopia ?

Output: What are the signs and symptoms of periventricular nodular heterotopia? The condition is first noticed when seizures appear, often during the teenage years. The nodules around the ventricles are then typically discovered when magnetic resonance imaging (MRI) studies are done. Patients usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some girls with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), developmental delays, recurrent infections, blood vessel abnormalities, or other problems. In the X-linked form of periventricular nodular heterotopia, affected patients are mostly females because in males the symptoms are too serious and they die before birth. The following clinical features have been reported: seizure disorder, mental problems, heart anomalies, stomach immobility, strabismus, short fingers and dyslexia. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome (Ehlers-Danlos with periventricular heterotopia) which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels. In the autosomal recessive form of periventricular heterotopia the disorder is severe and may include microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show any signs or symptoms of this condition. </s>


Input: How to diagnose Periventricular heterotopia ?

Output: What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823]  Imaging exams of the brain to establish the diagnosis  Evaluation by a neurologist  Evaluation by a doctor specialized in epilepsy if seizures are present  Psychiatric evaluation if necessary  Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke  Evaluation by a cardiologist and either echocardiogram or a heart magnetic resonance imaging (MRI) because of the risk for aortic aneurysm  Evaluation by a hematologist if findings suggest a bleeding diathesis. </s>


Input: What are the treatments for Periventricular heterotopia ?

Output: How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies.[1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance. </s>


Input: What is (are) Hermansky-Pudlak syndrome ?

Output: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion. Treatment is symptomatic and supportive. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7, 8 and 9. </s>


Input: What are the symptoms of Hermansky-Pudlak syndrome ?

Output: What are the signs and symptoms of Hermansky-Pudlak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky-Pudlak 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 coagulation 90% Generalized hypopigmentation 90% Nystagmus 90% Ocular albinism 90% Visual impairment 90% Abnormality of the macula 50% Abnormality of the menstrual cycle 50% Abnormality of visual evoked potentials 50% Astigmatism 50% Bruising susceptibility 50% Cataract 50% Epistaxis 50% Hypopigmentation of hair 50% Myopia 50% Optic atrophy 50% Photophobia 50% Pulmonary fibrosis 50% Renal insufficiency 50% Strabismus 50% Abdominal pain 7.5% Abnormality of dental enamel 7.5% Abnormality of neutrophils 7.5% Abnormality of the eyelashes 7.5% Abnormality of thrombocytes 7.5% Gastrointestinal hemorrhage 7.5% Hyperkeratosis 7.5% Hypertrophic cardiomyopathy 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Melanocytic nevus 7.5% Neoplasm of the skin 7.5% Respiratory insufficiency 7.5% Weight loss 7.5% Abnormality of the hair - Albinism - Autosomal recessive inheritance - Cardiomyopathy - Freckles in sun-exposed areas - Freckling - Gingival bleeding - Hematochezia - Heterogeneous - Prolonged bleeding time - Restrictive lung disease - Severe 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. </s>


Input: What is (are) Schistosomiasis ?

Output: Schistosomiasis is a disease caused by parasitic worms. Although the worms that cause schistosomiasis are not found in the United States, more than 200 million people are infected worldwide. Infection occurs through contact with contaminated water. The parasite in its infective stages is called a cercaria. It swims freely in open bodies of water. On contact with humans, the parasite burrows into the skin, matures into another stage (schistosomula), then migrates to the lungs and liver, where it matures into the adult form. The adult worm then migrates to its preferred body part (bladder, rectum, intestines, liver, portal venous system (the veins that carry blood from the intestines to liver, spleen, lungs), depending on its species.  Schistosomiasis is common in many tropical and subtropical areas worldwide. It can be treated safely and effectively with praziquantel. </s>


Input: What are the symptoms of Schistosomiasis ?

Output: What are the signs and symptoms of Schistosomiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Schistosomiasis. 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 immune system - Autosomal dominant inheritance - 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. </s>


Input: How to diagnose Schistosomiasis ?

Output: How is schistosomiasis diagnosed? Examination of stool and/or urine for ova is the primary method of diagnosis for schistosomiasis. The choice of sample depends on the suspected species, which may be determined by careful review of travel and residence history. The sensitivity of this testing can be limited by the intensity of infection. For best results, three samples should be collected on different days.  A blood sample can also be tested for evidence of infection. Blood tests are indicated for travelers or immigrants from endemic areas who have not been treated (or not treated appropriately) in the past. The most common tests detect antibodies to the adult worm. For accurate results, the blood sample tested should be collected at least 6 to 8 weeks after likely infection. Blood testing may not be appropriate for patients who have been repeatedly infected and treated in the past because antibodies can persist despite cure. In these patients, blood testing cannot distinguish between a past or current infection. A specific blood test has been developed for this population (which can detect an active infection based on the presence of  schistosomal antigen), but this test is not commercially available in the United States and is currently being studied for its ability to detect mild infections. </s>


Input: What is (are) Herpes simplex encephalitis ?

Output: Herpes simplex encephalitis is a rare neurological condition that is characterized by inflammation of the brain (encephalitis). People affected by this condition may experience a headache and fever for up to 5 days, followed by personality and behavioral changes; seizures; hallucinations; and altered levels of consciousness. Without early diagnosis and treatment, severe brain damage or even death may occur. Herpes simplex encephalitis is caused by a virus called the herpes simplex virus. Most cases are associated with herpes simplex virus type I (the cause of cold sores or fever blisters), although rare cases can be caused by herpes simplex virus type II (genital herpes). It is poorly understood why some people who are infected with herpes simplex virus develop herpes simplex encephalitis while others do not. Changes (mutations) in genes such as TLR3 and TRAF3 have been observed suggesting there may be a genetic component in some cases. Treatment consists of antiviral therapy. </s>


Input: What are the symptoms of Microphthalmia syndromic 6 ?

Output: What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. 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) Aplasia/Hypoplasia affecting the eye 90% Microphthalmia 90% Cataract 50% Chorioretinal coloboma 50% Cognitive impairment 50% Iris coloboma 50% Microcornea 50% Abnormality of the fingernails 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the palate 7.5% Abnormality of the palpebral fissures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Postaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Sclerocornea 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Myopia 3/3 Anophthalmia 9/10 Blindness 8/11 Coloboma 3/5 High palate 3/6 Microcephaly 3/6 Sclerocornea 2/5 Absent speech 2/6 Anterior hypopituitarism 2/6 Aplasia/Hypoplasia of the corpus callosum 3/9 Cryptorchidism 2/6 Failure to thrive 2/6 Hearing impairment 2/6 Microcornea 1/3 Muscular hypotonia 2/6 Nystagmus 1/3 Orbital cyst 1/3 Retinal dystrophy 1/3 Retrognathia 2/6 Ventriculomegaly 3/9 Cerebral cortical atrophy 2/9 Hypothyroidism 2/9 Inferior vermis hypoplasia 2/9 Female hypogonadism 1/5 Preaxial hand polydactyly 2/11 Adrenal hypoplasia 1/6 Bifid scrotum 1/6 Brachycephaly 1/6 Cleft palate 1/6 Hypospadias 1/6 Microglossia 1/6 Micropenis 1/6 Renal hypoplasia 1/6 Small sella turcica 1/6 Cerebellar hypoplasia 1/9 Plagiocephaly 1/9 Abnormality of the cervical spine 1/10 Facial asymmetry 1/10 Lambdoidal craniosynostosis 1/10 Clinodactyly of the 5th finger 1/11 Finger syndactyly 1/11 Flexion contracture of thumb 1/11 Low-set ears 1/11 Posteriorly rotated ears 1/11 Protruding ear 1/11 Short middle phalanx of finger 1/11 Autosomal dominant inheritance - Bifid uvula - Brachydactyly syndrome - Delayed CNS myelination - High forehead - Hypoplasia of midface - Macrotia - Malar flattening - Severe muscular hypotonia - Single transverse palmar crease - Small scrotum - Toe syndactyly - Uplifted earlobe - 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. </s>


Input: What is (are) Spina bifida occulta ?

Output: Spina bifida occulta (SBO) occurs when the bones of the spinal column do not completely close around the developing nerves of the spinal cord. In most cases SBO causes no symptoms, however cases associated with back and urogenital problems have been reported. SBO has an estimated prevalence of 12.4%. </s>


Input: What are the symptoms of Spina bifida occulta ?

Output: What are the signs and symptoms of Spina bifida occulta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spina bifida occulta. 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) Anencephaly - Asymmetry of spinal facet joints - Autosomal dominant inheritance - Hydrocephalus - Multiple lipomas - Myelomeningocele - Spina bifida occulta - Urinary incontinence - 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. </s>


Input: What is (are) Afibrinogenemia ?

Output: Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait. </s>


Input: What are the symptoms of Afibrinogenemia ?

Output: What are the signs and symptoms of Afibrinogenemia? In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following: Epistaxis (nosebleeds) and oral mucosal bleeding Hemarthrosis (joint bleeding) and muscle hematoma (bruising) Gastrointestinal bleeding Menorrhagia and postpartum hemorrhage Traumatic and surgical bleeding Spontaneous splenic rupture and intracranial hemorrhage (rare) Miscarriage The Human Phenotype Ontology provides the following list of signs and symptoms for Afibrinogenemia. 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 menstrual cycle 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Joint swelling 90% Spontaneous abortion 90% Intracranial hemorrhage 7.5% Autosomal recessive inheritance - Hypofibrinogenemia - Splenic rupture - 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. </s>


Input: What causes Afibrinogenemia ?

Output: What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG). </s>


Input: Is Afibrinogenemia inherited ?

Output: Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes. In order to be affected, these children would also have to inherit a mutated gene from their other parent. </s>


Input: What are the treatments for Afibrinogenemia ?

Output: How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis. </s>


Input: What is (are) Carpenter syndrome ?

Output: Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable. </s>


Input: What are the symptoms of Carpenter syndrome ?

Output: What are the signs and symptoms of Carpenter syndrome? The signs and symptoms of Carpenter syndrome can vary greatly, even within members of the same family. The main features include premature closure of certain skull bones (craniosynostosis), distinctive facial characteristics, and/or abnormalities of the fingers and toes (digits). People with Carpenter syndrome often have intellectual disability (from mild to profound), but some affected people have normal intelligence. Craniosynostosis prevents the skull from growing normally and can cause a pointed appearance of the head; asymmetry of the head and face; increased pressure within the skull; and characteristic facial features. Facial features may include a flat nasal bridge; down-slanting palpebral fissures (the outside corners of the eye); low-set and abnormally shaped ears; underdeveloped jaws; and abnormal eye shape. Vision problems are common. Some people also have dental abnormalities such as small baby teeth. Abnormalities of the fingers and toes may include fusion of the skin between digits; short digits; or extra digits. Other signs and symptoms may include obesity, umbilical hernia, hearing loss, heart defects, and other skeletal abnormalities such as as deformed hips, kyphoscoliosis, and knees that angle inward. Nearly all males have genital abnormalities such as undescended testes. A few affected people have organs or tissues within the torso that are in reversed positions. The Human Phenotype Ontology provides the following list of signs and symptoms for Carpenter 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 pinna - Agenesis of permanent teeth - Aplasia/Hypoplasia of the corpus callosum - Aplasia/Hypoplasia of the middle phalanges of the hand - Aplasia/Hypoplasia of the middle phalanges of the toes - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Brachydactyly syndrome - Camptodactyly - Cerebral atrophy - Clinodactyly of the 5th finger - Complete duplication of proximal phalanx of the thumb - Conductive hearing impairment - Coronal craniosynostosis - Coxa valga - Cryptorchidism - Depressed nasal bridge - Duplication of the proximal phalanx of the hallux - Epicanthus - External genital hypoplasia - Flared iliac wings - Genu valgum - Genu varum - High palate - Hydronephrosis - Hydroureter - Hypoplasia of midface - Hypoplasia of the maxilla - Intellectual disability - Joint contracture of the hand - Lambdoidal craniosynostosis - Large foramen magnum - Lateral displacement of patellae - Low-set ears - Malar flattening - Microcornea - Obesity - Omphalocele - Opacification of the corneal stroma - Optic atrophy - Patent ductus arteriosus - Persistence of primary teeth - Polysplenia - Postaxial hand polydactyly - Preauricular pit - Preaxial foot polydactyly - Precocious puberty - Pseudoepiphyses of the proximal phalanges of the hand - Pulmonic stenosis - Sacral dimple - Sagittal craniosynostosis - Scoliosis - Sensorineural hearing impairment - Shallow acetabular fossae - Short neck - Short stature - Spina bifida occulta - Telecanthus - Tetralogy of Fallot - Toe syndactyly - Transposition of the great arteries - Umbilical hernia - Underdeveloped supraorbital ridges - Ventricular septal defect - 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. </s>


Input: What are the symptoms of Cutaneous mastocytoma ?

Output: What are the signs and symptoms of Cutaneous mastocytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cutaneous mastocytoma. 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% Hypermelanotic macule 90% Mastocytosis 90% Pruritus 90% Urticaria 90% Thickened skin 50% Abdominal pain 7.5% Impaired temperature sensation 7.5% Migraine 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. </s>


Input: What are the symptoms of Spastic ataxia Charlevoix-Saguenay type ?

Output: What are the signs and symptoms of Spastic ataxia Charlevoix-Saguenay type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic ataxia Charlevoix-Saguenay 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) Absent Achilles reflex - Autosomal recessive inheritance - Babinski sign - Cerebellar vermis atrophy - Decreased nerve conduction velocity - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Dysarthria - Dysmetria - Falls - Hammertoe - Hyperreflexia - Impaired smooth pursuit - Impaired vibration sensation in the lower limbs - Infantile onset - Intellectual disability - Loss of Purkinje cells in the cerebellar vermis - Nystagmus - Pes cavus - Progressive gait ataxia - Progressive truncal ataxia - Scanning speech - Spastic ataxia - Spasticity - Swan neck-like deformities of the fingers - Urinary urgency - 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. </s>


Input: What is (are) Amyotrophic lateral sclerosis ?

Output: Amyotrophic lateral sclerosis (ALS), also referred to as "Lou Gehrig's disease," is a progressive motor neuron disease which leads to problems with muscle control and movement. There are various types of ALS, which are distinguished by their signs and symptoms and their cause. Early symptoms may include muscle twitching, cramping, stiffness, or weakness, eventually followed by slurred speech and difficulty chewing or swallowing (dysphagia). As the disease progresses, individuals become weaker are are eventually wheelchair-dependent. Death often results from respiratory failure within 2 to 10 years after the onset of symptoms. Most affected individuals have a sporadic (not inherited) form of ALS; about 5-10% have a familial (inherited) form of the condition. Familial ALS may caused by mutations in any one of several genes and the pattern of inheritance varies depending on the gene involved. Treatment is generally supportive. </s>


Input: What are the symptoms of Amyotrophic lateral sclerosis ?

Output: What are the signs and symptoms of Amyotrophic lateral sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis. 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) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Degeneration of anterior horn cells - Degeneration of the lateral corticospinal tracts - Fasciculations - Heterogeneous - Hyperreflexia - Muscle cramps - Muscle weakness - Pseudobulbar paralysis - Skeletal muscle atrophy - Sleep apnea - Spasticity - 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. </s>


Input: What causes Amyotrophic lateral sclerosis ?

Output: What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a family history of the condition. Mutations in any of several genes, including the C9orf72, SOD1, TARDBP, FUS, ANG, ALS2, SETX, and VAPB genes, can cause familial ALS and may contribute to the development of sporadic ALS. About 60% of individuals with familial ALS have an identifiable genetic mutation; the genetic cause in the remaining cases is unknown. The genes associated with ALS appear to play a role in how neurons function or are involved in regulating the production of various proteins. Over the years, various types of environmental exposures have been proposed as possible contributors to the cause of ALS, including mercury, manganese, products used in farming (fertilizers, insecticides, herbicides), and physical and dietary factors. Exposures have been suggested as a possible explanation for the increased incidence of ALS in Gulf War veterans. Further investigation is ongoing. </s>


Input: Is Amyotrophic lateral sclerosis inherited ?

Output: Is amyotrophic lateral sclerosis (ALS) inherited? About 90-95% percent of cases of ALS are not inherited and occur in individuals with no history of the condition in their family. The remaining 5-10% of cases are familial, and are thought to be caused by mutations in any one of several genes. The inheritance pattern associated with familial ALS varies depending on the disease-causing gene involved. Most familial cases are inherited in an autosomal dominant manner. This means that only one altered (mutated) copy of the disease-causing gene in each cell is sufficient to cause the condition. In most of these cases, an affected individual has one parent with the condition. When an individual with an autosomal dominant form of ALS has children, each child has a 50% (1 in 2) risk to inherited the mutated copy of the gene and be affected. Less frequently, ALS is inherited in an autosomal recessive manner. In autosomal recessive inheritance, both copies of the disease-causing gene (typically one copy inherited from each parent) must have a mutation for the individual to be affected. The parents of an individual with an autosomal recessive condition, who presumably each carry one mutated copy of the gene, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for the same condition are having children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. Autosomal recessive forms of ALS may be mistaken for non-inherited (sporadic) forms due to having a negative family history of the condition. In rare cases, ALS is inherited in an X-linked dominant manner. This occurs when the disease-causing gene is located on the X chromosome (a sex chromosome). Although females have 2 X chromosomes, having a mutation in one X chromosome is still sufficient to cause the condition. Males who have a mutation (and only one X chromosome) will have the condition. Usually, males with an X-linked dominant form of ALS experience more severe symptoms than females with the same form. Some individuals who do inherit a mutation known to cause ALS never develop signs and symptoms of ALS, although the reason for this is unclear. This phenomenon is referred to as reduced penetrance. </s>


Input: How to diagnose Amyotrophic lateral sclerosis ?

Output: Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering clinical and research genetic testing for ALS on a Web site called GeneTests. To see GeneTests' list of the types of ALS for which genetic testing is available, click here. Click on "Testing" next to each type of ALS of interest to see a list of the laboratories that offer clinical testing. Click on "Research" next to each type of ALS of interest to see a list of the laboratories that offer research testing. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. </s>


Input: What are the treatments for Amyotrophic lateral sclerosis ?

Output: How might amyotrophic lateral sclerosis (ALS) be treated? The Food and Drug Administration (FDA) has approved the first drug treatment for the diseaseriluzole (Rilutek). Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole prolongs survival by several months, mainly in those with difficulty swallowing. The drug also extends the time before a patient needs ventilation support. Riluzole does not reverse the damage already done to motor neurons, and patients taking the drug must be monitored for liver damage and other possible side effects. Other treatments for ALS are designed to relieve symptoms and improve the quality of life for patients (palliative care). This supportive care is typically provided by multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; social workers; and home care and hospice nurses. Working with patients and caregivers, these teams can design an individualized plan of medical and physical therapy and provide special equipment aimed at keeping patients as mobile and comfortable as possible. </s>


Input: What are the symptoms of Ichthyosis prematurity syndrome ?

Output: What are the signs and symptoms of Ichthyosis prematurity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis prematurity 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) Ichthyosis 90% Premature birth 90% 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. </s>


Input: What is (are) Trigeminal neuralgia ?

Output: Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of the face), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. </s>


Input: What are the symptoms of Trigeminal neuralgia ?

Output: What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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 dominant inheritance - Trigeminal neuralgia - 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. </s>


Input: What are the treatments for Trigeminal neuralgia ?

Output: How might trigeminal neuralgia be treated? Treatment options include medicines, surgery, and complementary approaches. Anticonvulsant medicinesused to block nerve firingare generally effective in treating trigeminal neuralgia.  These drugs include carbamazepine, oxcarbazepine, topiramate, clonazepam, phenytoin, lamotrigine, and valproic acid.  Gabapentin or baclofen can be used as a second drug to treat trigeminal neuralgia and may be given in combination with other anticonvulsants. Tricyclic antidepressants such as amitriptyline or nortriptyline are used to treat pain described as constant, burning, or aching.  Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by trigeminal neuralgia.  If medication fails to relieve pain or produces intolerable side effects, surgical treatment may be recommended. Several neurosurgical procedures are available to treat trigeminal neuralgia.  The choice among the various types depends on the patient's preference, physical well-being, previous surgeries, presence of multiple sclerosis, and area of trigeminal nerve involvement.  Some procedures are done on an outpatient basis, while others may involve a more complex operation that is performed under general anesthesia.  Some degree of facial numbness is expected after most of these procedures, and trigeminal neuralgia might return despite the procedures initial success.  Depending on the procedure, other surgical risks include hearing loss, balance problems, infection, and stroke. A rhizotomy is a procedure in which select nerve fibers are destroyed to block pain.  A rhizotomy for trigeminal neuralgia causes some degree of permanent sensory loss and facial numbness.  Several forms of rhizotomy are available to treat trigeminal neuralgia: Balloon compression works by injuring the insulation on nerves that are involved with the sensation of light touch on the face. Glycerol injection involves bathing the ganglion (the central part of the nerve from which the nerve impulses are transmitted) and damaging the insulation of trigeminal nerve fibers. Radiofrequency thermal lesioning involves gradually heating part of the nerve with an electrode, injuring the nerve fibers. Stereotactic radiosurgery uses computer imaging to direct highly focused beams of radiation at the site where the trigeminal nerve exits the brainstem.  This causes the slow formation of a lesion on the nerve that disrupts the transmission of pain signals to the brain. Microvascular decompression is the most invasive of all surgeries for trigeminal neuralgia, but it also offers the lowest probability that pain will return.  While viewing the trigeminal nerve through a microscope, the surgeon moves away the vessels that are compressing the nerve and places a soft cushion between the nerve and the vessels.  Unlike rhizotomies, there is usually no numbness in the face after this surgery.  A neurectomy, which involves cutting part of the nerve, may be performed during microvascular decompression if no vessel is found to be pressing on the trigeminal nerve. Some patients choose to manage trigeminal neuralgia using complementary techniques, usually in combination with drug treatment.  These therapies offer varying degrees of success.  Options include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves. More detailed information regarding the management of trigeminal neuralgia can be found through the National Institute of Neurological Disorders and Stroke and eMedicine. </s>


Input: What is (are) Inclusion body myopathy 2 ?

Output: Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms. </s>