Input: What are the symptoms of Beare-Stevenson cutis gyrata syndrome ?

Output: What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 pancreas 90% Acanthosis nigricans 90% Aplasia/Hypoplasia of the earlobes 90% Choanal atresia 90% Depressed nasal bridge 90% Dolichocephaly 90% Hearing abnormality 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Melanocytic nevus 90% Palmoplantar keratoderma 90% Proptosis 90% Ptosis 90% Reduced number of teeth 90% Respiratory insufficiency 90% Visceral angiomatosis 90% Bifid scrotum 50% Craniosynostosis 50% Abnormality of the nail 7.5% Anteverted nares 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Hydrocephalus 7.5% Hypertelorism 7.5% Hypertension 7.5% Narrow mouth 7.5% Optic atrophy 7.5% Thickened helices 7.5% Umbilical hernia 7.5% Agenesis of corpus callosum - Anteriorly placed anus - Autosomal dominant inheritance - Choanal stenosis - Cloverleaf skull - Hypoplasia of midface - Limited elbow extension - Low-set, posteriorly rotated ears - Narrow palate - Palmoplantar cutis laxa - Preauricular skin furrow - Prominent scrotal raphe - Respiratory distress - Small nail - 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 Retinal cone dystrophy 1 ?

Output: What are the signs and symptoms of Retinal cone dystrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% Autosomal dominant inheritance - Bull's eye maculopathy - Diffuse retinal cone degeneration - Progressive visual loss - 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 Johnston Aarons Schelley syndrome ?

Output: What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 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) Cerulean cataract ?

Output: Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood. They are usually bilateral and progressive. Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia. In adulthood, the cataracts may progress, making lens removal necessary. Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress. </s>


Input: What are the symptoms of Cerulean cataract ?

Output: What are the signs and symptoms of Cerulean cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerulean cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Cerulean cataract 100% Macular hypoplasia 5% Retinal detachment 5% Autosomal dominant inheritance - Congenital cataract - Cortical pulverulent cataract - Iris coloboma - Microcornea - Sutural cataract - Visual loss - 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 Cerulean cataract ?

Output: How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV. </s>


Input: What are the symptoms of Pancreatic cancer, childhood ?

Output: What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Neoplasm of the pancreas - 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) Ehlers-Danlos syndrome, progeroid type ?

Output: Ehlers-Danlos syndrome progeroid type is a genetic disorder of the connective tissue, which is the material between the cells of the body that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually show up by childhood or adolescence. Like people with other types of Ehlers-Danlos syndrome, individuals with the progeroid form have unusually flexible joints, loose elastic skin, and easy scarring. Features that are unique to this type include sparse scalp hair and eyebrows, and loose elastic skin on the face; these features cause affected individuals to look older than their age. Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and delayed growth in affected children. The progeroid type of Ehlers-Danlos syndrome is caused by mutations in the B4GALT7 gene and is inherited in an autosomal recessive pattern. </s>


Input: What are the symptoms of Ehlers-Danlos syndrome, progeroid type ?

Output: What are the signs and symptoms of Ehlers-Danlos syndrome, progeroid type? Ehlers-Danlos syndrome refers to a group of connective tissue disorders characterized by stretchy or kneadable skin, double jointedness, and delayed healing of skin wounds. In addition to these traits, individuals with the progeroid type have thin curly hair, sparse eyebrows and eyelashes, loose elastic skin on the face, and may also have uneven facial features. Although progeroid means "appearance similar to old age", individuals with progeroid Ehlers-Danlos syndrome do not actually have premature aging and are not expected to have a shortened life span. Other symptoms may include poor muscle tone, fragile bones from low bone mineral density, abnormal teeth, and infection of gums around the teeth. Children who are affected may have delayed growth, which can result in short stature as an adult (less than 152cm). Mild intellectual disabilities or learning disabilities have also been associated with this disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, progeroid 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) Abnormality of adipose tissue 90% Abnormality of the aortic valve 90% Abnormality of the pulmonary valve 90% Cryptorchidism 90% Epicanthus 90% Flexion contracture 90% Gingivitis 90% Muscular hypotonia 90% Prematurely aged appearance 90% Short stature 90% Testicular torsion 90% Thin skin 90% Abnormal facial shape 50% Abnormality of skin pigmentation 50% Alopecia 50% Aplasia/Hypoplasia of the abdominal wall musculature 50% Atypical scarring of skin 50% Reduced bone mineral density 50% Skeletal dysplasia 50% Telecanthus 50% Joint hypermobility 7.5% Absent earlobe - Arachnodactyly - Atrophic scars - Autosomal recessive inheritance - Bifid uvula - Coxa valga - Failure to thrive - Joint laxity - Long toe - Macrocephaly - Narrow chest - Narrow mouth - Osteopenia - Palmoplantar cutis gyrata - Pes planus - Proptosis - Radioulnar synostosis - Short clavicles - Single transverse palmar crease - Slender toe - Small face - Sparse scalp hair - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Ehlers-Danlos syndrome, progeroid type ?

Output: What causes Ehlers-Danlos syndrome progeroid type? Ehlers-Danlos syndrome progeroid type is caused by changes (mutations) in both of an individual's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue. Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms of Ehlers-Danlos syndrome progeroid type. </s>


Input: Is Ehlers-Danlos syndrome, progeroid type inherited ?

Output: How is Ehlers-Danlos syndrome progeroid type inherited? Ehlers-Danlos syndrome progeroid type is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the B4GALT7 gene to be affected with the condition. One copy is inherited from each parent. If an individual has only one non-functional B4GALT7 gene (such as each parent), he or she is a "carrier". Carriers do not typically show any signs or symptoms of a recessive condition. When two carriers for a recessive condition have children, with each pregnancy there is a 25% (1 in 4) risk for the child to be affected, a 50%  (1 in 2) risk for the child to be a carrier (like each parent) and a 25% risk that the child will be unaffected and also not be a carrier. An individual with a recessive condition will generally have unaffected children, except in the rare circumstance where his or her partner is a carrier of a nonfunctional B4GALT7 gene. </s>


Input: What are the treatments for Ehlers-Danlos syndrome, progeroid type ?

Output: How might Ehlers-Danlos syndrome progeroid type be treated? Individuals with Ehlers-Danlos Syndrome progeroid type can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. Affected individuals with joint pain might benefit from anti-inflammatory drugs. Lifestyle changes or precautions during exercise or intense physical activity may be advised to reduce the chance of accidents to the skin and bone. It is recommended that affected individuals discuss treatment options with their healthcare provider. </s>


Input: What is (are) Gray platelet syndrome ?

Output: Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner. </s>


Input: What are the symptoms of Gray platelet syndrome ?

Output: What are the signs and symptoms of Gray platelet syndrome? Signs and symptoms usually appear at birth or in early childhood and include low platelet counts, easy bruising, prolonged bleeding, and nose bleeds. Affected individuals often have myelofibrosis and splenomegaly. Bleeding tendency is usually mild to moderate in those with mild thrombocytopenia. However, the thrombocytopenia and myelofibrosis are usually progressive in nature. GPS may result in fatal hemorrhage (bleeding), especially in adulthood when platelet counts are further decreased. Female patients may develop heavy menstrual bleeding. The Human Phenotype Ontology provides the following list of signs and symptoms for Gray platelet 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% Bruising susceptibility 90% Thrombocytopenia 90% Abnormality of the menstrual cycle 50% Epistaxis 50% Myelodysplasia 50% Splenomegaly 50% Autosomal dominant inheritance - Autosomal recessive inheritance - Impaired collagen-induced platelet aggregation - Impaired thrombin-induced platelet aggregation - Menorrhagia - Myelofibrosis - Progressive - Prolonged bleeding time - Reduced quantity of Von Willebrand factor - Reduced von Willebrand factor activity - 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 Gray platelet syndrome ?

Output: How might gray platelet syndrome (GPS) be treated? There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. Splenectomy should be considered to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. Prognosis is generally good early in life when thrombocytopenia is mild. Those with platelets counts less than 30,000/microliter are at risk for life-threatening bleeding. </s>


Input: What are the symptoms of Episodic ataxia with nystagmus ?

Output: What are the signs and symptoms of Episodic ataxia with nystagmus? The Human Phenotype Ontology provides the following list of signs and symptoms for Episodic ataxia with nystagmus. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 - Cerebellar vermis atrophy - Diplopia - Downbeat nystagmus - Dysarthria - Dystonia - Episodic ataxia - Gaze-evoked nystagmus - Incomplete penetrance - Migraine - Muscle weakness - Myotonia - Paresthesia - Progressive cerebellar ataxia - Saccadic smooth pursuit - Tinnitus - Vertigo - Vestibular dysfunction - 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) Pterygium of the conjunctiva and cornea ?

Output: Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal of the pterygium is often not needed unless it is causing irritation or vision loss. </s>


Input: What are the symptoms of Pterygium of the conjunctiva and cornea ?

Output: What are the signs and symptoms of Pterygium of the conjunctiva and cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Pterygium of the conjunctiva and cornea. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Opacification of the corneal stroma 50% Abnormality of the conjunctiva - Autosomal dominant inheritance - Pterygium - 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) Pearson syndrome ?

Output: Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic. </s>


Input: What are the symptoms of Pearson syndrome ?

Output: What are the signs and symptoms of Pearson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pearson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 skin pigmentation 90% Abnormality of the heme biosynthetic pathway 90% Anemia 90% Delayed skeletal maturation 90% Exocrine pancreatic insufficiency 90% Intrauterine growth retardation 90% Malabsorption 90% Muscular hypotonia 90% Reduced bone mineral density 90% Type I diabetes mellitus 90% 3-Methylglutaric aciduria - Complex organic aciduria - Failure to thrive - Lactic acidosis - Metabolic acidosis - Mitochondrial inheritance - Pancreatic fibrosis - Refractory sideroblastic anemia - Renal Fanconi syndrome - Small for gestational age - 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) Brown-Sequard syndrome ?

Output: Brown-Sequard syndrome is a rare neurological condition characterized by a lesion in the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation  on the opposite side (hemianesthesia). Brown-Sequard syndrome may be caused by a spinal cord tumor, trauma (such as a puncture wound to the neck or back), obstructed blood vessel, or infectious or inflammatory diseases such as tuberculosis, or multiple sclerosis. Treatment and prognosis depends on the underlying cause of the condition. </s>


Input: What are the treatments for Brown-Sequard syndrome ?

Output: How might Brown-Sequard syndrome be treated? </s>


Input: What are the symptoms of Nail dysplasia, isolated congenital ?

Output: What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 - Concave nail - 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 Pseudoprogeria syndrome ?

Output: What are the signs and symptoms of Pseudoprogeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoprogeria syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 eyelashes 90% Abnormality of the teeth 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Convex nasal ridge 90% Freckling 90% Gait disturbance 90% Hypertonia 90% Microcephaly 90% Narrow nasal bridge 90% Neurological speech impairment 90% Prominent nasal bridge 90% Ptosis 90% Reduced bone mineral density 90% Scoliosis 90% Short philtrum 90% Thin skin 90% Abnormality of the nipple 50% Abnormality of the pinna 50% Delayed skeletal maturation 50% Glaucoma 50% Hemiplegia/hemiparesis 50% Microcornea 50% Optic atrophy 50% Seizures 50% Short stature 50% Absent eyebrow 2/2 Absent eyelashes 2/2 Convex nasal ridge 2/2 Glaucoma 2/2 Microcephaly 2/2 Progressive spastic quadriplegia 2/2 Short nose 2/2 Encephalocele 1/2 Autosomal 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) Neurofibromatosis ?

Output: Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots, freckling in armpit and groin area); bone abnormalities; optic gliomas; and tumors on the nerve tissue or under the skin. Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2) causes acoustic neuromas; hearing loss; ringing in the ears; poor balance; brain and/or spinal tumors; and cataracts at a young age. It often starts in the teen years. Schwannomatosis causes schwannomas, pain, numbness, and weakness. It is the rarest type. All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and/or medicines. </s>


Input: Is Neurofibromatosis inherited ?

Output: Is neurofibromatosis inherited? Neurofibromatosis is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with neurofibromatosis has a 50% chance with each pregnancy of passing along the altered gene to his or her child. </s>


Input: What is (are) CHILD syndrome ?

Output: CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females. </s>


Input: What are the symptoms of CHILD syndrome ?

Output: What are the signs and symptoms of CHILD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CHILD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Congenital ichthyosiform erythroderma 100% Stillbirth 99% Abnormality of bone mineral density 90% Abnormality of the ribs 90% Abnormality of the thyroid gland 90% Amniotic constriction ring 90% Aplasia of the pectoralis major muscle 90% Aplasia/hypoplasia of the extremities 90% Asymmetric growth 90% Atria septal defect 90% Cognitive impairment 90% Epiphyseal stippling 90% Flexion contracture 90% Hypoplastic left heart 90% Ichthyosis 90% Skin rash 90% Sprengel anomaly 90% Thin skin 90% Upper limb phocomelia 90% Abnormality of the nail 75% Hyperkeratosis 75% Parakeratosis 75% Cerebral cortical atrophy 50% Abnormality of cardiovascular system morphology 7.5% Abnormality of epiphysis morphology 7.5% Abnormality of the adrenal glands 7.5% Abnormality of the cranial nerves 7.5% Abnormality of the fingernails 7.5% Abnormality of the heart valves 7.5% Alopecia 7.5% Aplasia/Hypoplasia of the lungs 7.5% Arteriovenous malformation 7.5% Cleft palate 7.5% Congenital hip dislocation 7.5% Dry skin 7.5% Elevated 8(9)-cholestenol 7.5% Elevated 8-dehydrocholesterol 7.5% Hearing impairment 7.5% Hypoplastic pelvis 7.5% Hypoplastic scapulae 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Myelomeningocele 7.5% Polycystic ovaries 7.5% Pulmonary hypoplasia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short clavicles 7.5% Short ribs 7.5% Short stature 7.5% Ventricular septal defect 7.5% Vertebral hypoplasia 7.5% Adrenal hypoplasia 5% Aplasia/Hypoplasia involving the central nervous system 5% Thyroid hypoplasia 5% Abnormality of the cardiac septa - Cleft upper lip - Heterogeneous - Hydronephrosis - Intellectual disability, mild - Mild intrauterine growth retardation - Single ventricle - Umbilical hernia - X-linked 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 are the symptoms of Microcephaly brain defect spasticity hypernatremia ?

Output: What are the signs and symptoms of Microcephaly brain defect spasticity hypernatremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly brain defect spasticity hypernatremia. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 metabolism/homeostasis 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Hypertonia 90% Microcephaly 90% Holoprosencephaly 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) IBIDS syndrome ?

Output: Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy). </s>


Input: What are the symptoms of IBIDS syndrome ?

Output: What are the signs and symptoms of IBIDS syndrome? The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects. Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections. The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS 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 face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - 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: Is IBIDS syndrome inherited ?

Output: What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier. </s>


Input: What are the treatments for IBIDS syndrome ?

Output: What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum. </s>


Input: What are the symptoms of Anemia due to Adenosine triphosphatase deficiency ?

Output: What are the signs and symptoms of Anemia due to Adenosine triphosphatase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia due to Adenosine triphosphatase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Nonspherocytic hemolytic anemia 5% 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 are the symptoms of Isolated growth hormone deficiency type 3 ?

Output: What are the signs and symptoms of Isolated growth hormone deficiency type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated growth hormone deficiency type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Chronic otitis media - Conjunctivitis - Delayed skeletal maturation - Diarrhea - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Growth hormone deficiency - Hearing impairment - Meningitis - Panhypogammaglobulinemia - Pneumonia - Prostatitis - Pyoderma - Recurrent bacterial infections - Recurrent enteroviral infections - Recurrent urinary tract infections - Septic arthritis - Short stature - Sinusitis - 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 are the symptoms of Stomatocytosis I ?

Output: What are the signs and symptoms of Stomatocytosis I? The Human Phenotype Ontology provides the following list of signs and symptoms for Stomatocytosis I. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 - Hemolytic anemia - Increased intracellular sodium - Increased red cell osmotic fragility - Stomatocytosis - 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) Muscular dystrophy, congenital, merosin-positive ?

Output: The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. It usually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. </s>


Input: What are the symptoms of Muscular dystrophy, congenital, merosin-positive ?

Output: What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Decreased fetal movement - Facial palsy - Flexion contracture - Increased variability in muscle fiber diameter - Joint laxity - Mildly elevated creatine phosphokinase - Myopathy - Neck muscle weakness - Neonatal hypotonia - Proximal muscle weakness - Respiratory insufficiency due to muscle weakness - Scoliosis - Shoulder girdle muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Pseudopseudohypoparathyroidism ?

Output: Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP. </s>


Input: What are the symptoms of Pseudopseudohypoparathyroidism ?

Output: What are the signs and symptoms of Pseudopseudohypoparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopseudohypoparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Intellectual disability 5% Autosomal dominant inheritance - Brachydactyly syndrome - Cataract - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Full cheeks - Hypoplasia of dental enamel - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Short metacarpal - Short metatarsal - Short neck - Short stature - 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 Treacher Collins syndrome 3 ?

Output: What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 outer ear - Autosomal recessive inheritance - Cleft palate - Lower eyelid coloboma - Malar flattening - Mandibulofacial dysostosis - 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) Pityriasis lichenoides et varioliformis acuta ?

Output: Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids. </s>


Input: What are the symptoms of Pityriasis lichenoides et varioliformis acuta ?

Output: What are the signs and symptoms of pityriasis lichenoides et varioliformis acuta? Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. It is characterized by the sudden onset of red patches that quickly develop into scaling papules. These papules may become filled with blood and/or pus or erode into crusted red-brown spots. People may also experience burning and itching of the affected area. Scarring and/or temporary discoloration of the skin may be present after the lesions have healed. Although PLEVA can affect almost any part of the body, it most commonly develops on the trunk and/or limbs (arms/legs). Affected people may have a few to more than one hundred papules. The skin abnormalities generally resolve without treatment in a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Aside from the skin findings, most affected people do not experience any additional signs and symptoms. However, some may experience fever, headaches, joint pain and swelling of nearby lymph nodes. Febrile Ulceronecrotic Mucha-Haberman Disease is a rare and severe variant of PLEVA that is associated with unique signs and symptoms. For more information on this condition, please click here. </s>


Input: What causes Pityriasis lichenoides et varioliformis acuta ?

Output: What causes pityriasis lichenoides et varioliformis acuta? The exact underlying cause of pityriasis lichenoides et varioliformis acuta (PLEVA) is unknown. Some scientists suspect that it may occur due to an exaggerated immune response or hypersensitivity to an infection. Some of the infections that have been associated with PLEVA include: Toxoplasma gondii    Epstein-Barr virus HIV Cytomegalovirus Parvovirus (fifth disease) Staphylococcus aureus Group A beta-haemolytic streptococci Others scientists think the condition may be a benign lymphoproliferative disorder. These conditions are characterized by an overproduction of certain white blood cells (lymphocytes) which can result in tissue and organ damage. </s>


Input: How to diagnose Pityriasis lichenoides et varioliformis acuta ?

Output: How is pityriasis lichenoides et varioliformis acuta diagnosed? A diagnosis of pityriasis lichenoides et varioliformis acuta is often suspected based on characteristic signs and symptoms. A skin biopsy can be used to confirm the diagnosis. Additional laboratory testing may be ordered to investigate a possible cause such as an associated infection. </s>


Input: What are the treatments for Pityriasis lichenoides et varioliformis acuta ?

Output: How might pityriasis lichenoides et varioliformis acuta be treated? Pityriasis lichenoides et varioliformis acuta (PLEVA) often resolves on its own within several weeks to several months. Depending on the severity of the condition and the symptoms present, treatment may not be necessary. If treatment is indicated, there are many different therapies that have been used to treat PLEVA with varying degrees of success. These include: Oral antibiotics Sun exposure Topical steroids Immunomodulators (medications used to help regulate or normalize the immune system) Phototherapy Systemic steroids Unfortunately, PLEVA may not always respond to treatment and relapses often occur when treatment is discontinued. </s>


Input: What is (are) Konigsmark Knox Hussels syndrome ?

Output: Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion. </s>


Input: What are the symptoms of Konigsmark Knox Hussels syndrome ?

Output: What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - 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 causes Konigsmark Knox Hussels syndrome ?

Output: What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals. </s>


Input: How to diagnose Konigsmark Knox Hussels syndrome ?

Output: Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you. </s>


Input: What are the symptoms of Follicle-stimulating hormone deficiency, isolated ?

Output: What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Decreased muscle mass 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased testicular size - Delayed skeletal maturation - Infertility - Primary amenorrhea - 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 Congenital ectodermal dysplasia with hearing loss ?

Output: What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 hair quantity 90% Camptodactyly of finger 90% Sensorineural hearing impairment 90% Short stature 90% Arachnodactyly 50% Carious teeth 50% Coarse hair 50% Cognitive impairment 50% Hyperkeratosis 50% Kyphosis 50% Scoliosis 50% Autosomal recessive inheritance - Hidrotic ectodermal dysplasia - Joint contracture of the hand - Thoracic scoliosis - 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) Prune belly syndrome ?

Output: Prune belly syndrome, also called Eagle-Barrett syndrome, is a condition characterized by three main features: (1) a lack of abdominal muscles, causing the skin on the belly area to wrinkle and appear "prune-like";  (2) undescended testicles in males; and (3) urinary tract problems. The incidence of prune belly syndrome (PBS) is 1 in 40,000 births; 95% of cases occur in boys. The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child.  At one end of the spectrum, the condition may cause severe urogenital and pulmonary problems incompatible with life (resulting in stillbirth); at the other end of the spectrum, the condition may cause few, if any, urological abnormalities that require no treatment other than  undescended testicle repair in males. The cause of the condition is unknown. </s>


Input: What are the symptoms of Prune belly syndrome ?

Output: What are the signs and symptoms of Prune belly syndrome? The severity of symptoms in infants with prune belly syndrome can vary greatly from child to child. Common symptoms are poorly developed abdominal muscles, undescended testicles in males, and urinary tract problems such as swelling of the kidney, abnormally developed kidneys, and enlarged ureters, bladder, and urethra. Prune belly syndrome may also cause lung, heart, gastrointestinal, and other organ, bone, and muscle damage. The Human Phenotype Ontology provides the following list of signs and symptoms for Prune belly 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) Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the lungs 90% Cryptorchidism 90% Decreased fertility 90% Neoplasm of the thymus 90% Vesicoureteral reflux 90% Abnormal immunoglobulin level 50% Abnormality of the ribs 50% Acrocyanosis 50% Chest pain 50% Constipation 50% Diaphragmatic paralysis 50% Mediastinal lymphadenopathy 50% Multicystic kidney dysplasia 50% Oligohydramnios 50% Periorbital edema 50% Recurrent respiratory infections 50% Recurrent urinary tract infections 50% Renal insufficiency 50% Respiratory insufficiency 50% Abnormality of coagulation 7.5% Abnormality of the hip bone 7.5% Abnormality of the pericardium 7.5% Atria septal defect 7.5% Autoimmunity 7.5% Cognitive impairment 7.5% Fatigable weakness 7.5% Feeding difficulties in infancy 7.5% Increased intracranial pressure 7.5% Intestinal malrotation 7.5% Migraine 7.5% Neuroendocrine neoplasm 7.5% Neurological speech impairment 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Ptosis 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Talipes 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Urogenital sinus anomaly 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Volvulus 7.5% Abnormality of the skin - Anal atresia - Aplasia of the abdominal wall musculature - Autosomal recessive inheritance - Congenital hip dislocation - Congenital posterior urethral valve - Hydronephrosis - Hydroureter - Pectus carinatum - Prune belly - Talipes equinovarus - Xerostomia - 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 Prune belly syndrome ?

Output: What causes prune belly syndrome? The underlying cause of prune belly syndrome is unknown. The condition may occur if there is a blockage preventing the flow of urine through the urinary tract. The blockage can cause the urine to flow back into the bladder, enlarging it. </s>


Input: What are the treatments for Prune belly syndrome ?

Output: How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems.  Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider. </s>


Input: What is (are) Lung adenocarcinoma ?

Output: Lung adenocarcinoma is a cancer that occurs due to abnormal and uncontrolled cell growth in the lungs. It is a subtype of non-small cell lung cancer that is often diagnosed in an outer area of the lung. Early lung cancers may not be associated with any signs and symptoms. As the condition progresses, affected people can experience chest pain, a persistent cough, fatigue, coughing up blood, loss of appetite, unexplained weight loss, shortness of breath, and/or wheezing. The underlying cause of lung adenocarcinoma is generally unknown; however, risk factors for developing a lung cancer include smoking; exposure to secondhand smoke and other toxic chemicals; a family history of lung cancer; previous radiation treatment to the chest or breast; and HIV infection. Treatment varies based on the severity of the condition, the associated signs and symptoms and the affected person's overall health. It may include a combination of surgery, radiation therapy, chemotherapy, targeted therapy, and/or watchful waiting. </s>


Input: What are the symptoms of Lung adenocarcinoma ?

Output: What are the signs and symptoms of Lung adenocarcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Lung adenocarcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Alveolar cell carcinoma - Autosomal 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 are the symptoms of Congenital generalized lipodystrophy type 1 ?

Output: What are the signs and symptoms of Congenital generalized lipodystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Cystic angiomatosis of bone - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Insulin-resistant diabetes mellitus at puberty - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - 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) Autosomal recessive hyper IgE syndrome ?

Output: Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndrome. AR-HIES accounts for only a small minority of HIES cases, with about 130 affected families reported so far. In contrast to AD-HIES, the AR variant is further characterized by extreme hypereosinophilia (increase in the eosinophil count in the bloodstream); susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; involvement of the central nervous system; T-cell defects; and a high death rate. The dental, skeletal, connective tissue, and facial features present in AD-HIES are absent in AR-HIES. AR-HIES is inherited in an autosomal recessive fashion and is caused by mutations in the DOCK8 gene. </s>


Input: What are the symptoms of Autosomal recessive hyper IgE syndrome ?

Output: What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Asthma 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Eczema 90% Otitis media 90% Sinusitis 90% Skin ulcer 90% Verrucae 90% Atopic dermatitis - Autosomal recessive inheritance - Cerebral vasculitis - Eosinophilia - Hemiplegia - Infantile onset - Neoplasm - Recurrent bacterial infections - Recurrent fungal infections - Recurrent sinopulmonary infections - Recurrent viral infections - Subarachnoid hemorrhage - 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 Ichthyosis alopecia eclabion ectropion mental retardation ?

Output: What are the signs and symptoms of Ichthyosis alopecia eclabion ectropion mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis alopecia eclabion ectropion mental retardation. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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 eyelid 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Ichthyosis 90% Neurological speech impairment 90% Gait disturbance 50% Autosomal recessive inheritance - Ectropion - Intellectual disability - 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 Erythroderma lethal congenital ?

Output: What are the signs and symptoms of Erythroderma lethal congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythroderma lethal congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Dry skin 90% Ichthyosis 90% Malabsorption 90% Respiratory insufficiency 90% Urticaria 90% Autosomal recessive inheritance - Congenital exfoliative erythroderma - Death in infancy - Failure to thrive - Hypoalbuminemia - 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) Arts syndrome ?

Output: Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner. </s>


Input: What are the symptoms of Arts syndrome ?

Output: What are the signs and symptoms of Arts syndrome? Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).   Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.  Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.  The Human Phenotype Ontology provides the following list of signs and symptoms for Arts 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 immune system physiology 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Hemiplegia/hemiparesis 90% Incoordination 90% Muscular hypotonia 90% Optic atrophy 90% Peripheral neuropathy 90% Sensorineural hearing impairment 90% Visual impairment 90% Muscle weakness 50% Respiratory insufficiency 50% Pancreatic fibrosis 7.5% Hyperreflexia 5% Absent speech - Areflexia - Ataxia - Death in infancy - Drooling - Dysphagia - Growth delay - Hearing impairment - Immunodeficiency - Intellectual disability - Neonatal hypotonia - Nystagmus - Progressive muscle weakness - Recurrent infections - Recurrent upper respiratory tract infections - Seizures - Spinal cord posterior columns myelin loss - Tetraplegia - Visual loss - 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 Arts syndrome ?

Output: What causes Arts syndrome? Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell. The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome. </s>


Input: Is Arts syndrome inherited ?

Output: How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are typically much less severely affected.by Arts syndrome than males. In many cases, they do not experience any symptoms.  In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene. </s>


Input: What is (are) Fibrolamellar carcinoma ?

Output: Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection. </s>


Input: What are the symptoms of Fibrolamellar carcinoma ?

Output: What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain Weight loss Malaise Abdominal mass Hepatomegaly    The Human Phenotype Ontology provides the following list of signs and symptoms for Fibrolamellar carcinoma. 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 - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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 Fibrolamellar carcinoma ?

Output: What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis. However, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. Recent research suggests that a deletion on chromosome 19 may play a key role in the formation of FLC. This deletion is called a "somatic mutation" since it is only present in the cells of the liver. Somatic mutations accumulate during a person's lifetime and are not inherited or passed on to future generations. </s>


Input: How to diagnose Fibrolamellar carcinoma ?

Output: How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC. Medscape Reference's Web site offers more specific information on the diagnosis of FLC. Please click on the link to access this resource. </s>


Input: What are the treatments for Fibrolamellar carcinoma ?

Output: How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be considered if surgical resection isn't an option. For example, liver transplantation may be considered in patients who are not candidates for partial resection (removing a portion of the liver). Medscape Reference's Web site offers more specific information on the treatment and management of FLC. Please click the link to access this resource. </s>


Input: What are the symptoms of Leigh syndrome, French Canadian type ?

Output: What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. 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) Seizures 5% Anteverted nares - Ataxia - Autosomal recessive inheritance - CNS demyelination - Delayed speech and language development - Failure to thrive - Gliosis - Highly arched eyebrow - Hirsutism - Hyperglycemia - Hypertelorism - Hypoglycemia - Hypoplasia of midface - Increased CSF lactate - Increased hepatocellular lipid droplets - Increased serum lactate - Infantile onset - Lactic acidosis - Low anterior hairline - Malar flattening - Microvesicular hepatic steatosis - Muscular hypotonia - Peripheral demyelination - Prominent forehead - Strabismus - Tachypnea - Tremor - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Kenny-Caffey syndrome type 1 ?

Output: What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Birth length less than 3rd percentile - Calvarial osteosclerosis - Carious teeth - Congenital hypoparathyroidism - Decreased skull ossification - Delayed closure of the anterior fontanelle - Delayed skeletal maturation - Hypertelorism - Hypocalcemia - Hypomagnesemia - Intrauterine growth retardation - Long clavicles - Proportionate short stature - Recurrent bacterial infections - Seizures - Short foot - Short palm - Slender long bone - Small hand - Tetany - Thin clavicles - Thin ribs - 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>