Input: What are the symptoms of Familial hemiplegic migraine type 3 ?

Output: What are the signs and symptoms of Familial hemiplegic migraine type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine 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) Abnormality of movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Blindness - Hemiparesis - Hemiplegia - Migraine with aura - Photophobia - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Linear scleroderma ?

Output: Linear scleroderma  is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed "en coup de sabre". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems. </s>


Input: What is (are) Osteopathia striata cranial sclerosis ?

Output: Osteopathia striata cranial sclerosis is a type of skeletal dysplasia, which refers to a group of genetic conditions that affect the bones and hinder growth and development. The severity of the condition and the associated symptoms vary significantly from person to person, even within a single family. Features of the condition are generally present at birth and may include skeletal abnormalities (particularly at the ends of long bones), sclerosis (hardening) of the craniofacial bones, macrocephaly (unusually large head size), and characteristic facial features. Some affected people may also have developmental delay, hearing loss, heart defects and/or ophthalmoplegia (paralysis of the muscles surrounding the eyes). Osteopathia striata cranial sclerosis is caused by changes (mutations) in the WTX gene and is inherited in an X-linked dominant manner. Treatment is based on the signs and symptoms present in each person. </s>


Input: What are the symptoms of Osteopathia striata cranial sclerosis ?

Output: What are the signs and symptoms of Osteopathia striata cranial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopathia striata cranial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of pelvic girdle bone morphology 90% Craniofacial hyperostosis 90% Rough bone trabeculation 90% Cleft palate 50% Conductive hearing impairment 50% Delayed eruption of teeth 50% Frontal bossing 50% Macrocephaly 50% Malar flattening 50% Scoliosis 50% Wide nasal bridge 50% Intellectual disability, mild 33% High palate 15% Abnormality of the aorta 7.5% Asymmetry of the thorax 7.5% Cataract 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Delayed speech and language development 7.5% Epicanthus 7.5% Facial palsy 7.5% Headache 7.5% Hyperlordosis 7.5% Low-set, posteriorly rotated ears 7.5% Neurological speech impairment 7.5% Short stature 7.5% Spina bifida occulta 7.5% Anal atresia 5% Anal stenosis 5% Multicystic kidney dysplasia 5% Omphalocele 5% Apnea - Arachnodactyly - Atria septal defect - Bifid uvula - Broad ribs - Camptodactyly - Cleft upper lip - Clinodactyly of the 5th finger - Craniofacial osteosclerosis - Delayed closure of the anterior fontanelle - Dental crowding - Dental malocclusion - Failure to thrive - Fibular aplasia - Fibular hypoplasia - Flexion contracture of toe - Gastroesophageal reflux - Hydrocephalus - Hypertelorism - Intestinal malrotation - Joint contracture of the hand - Large fontanelles - Laryngeal web - Microtia - Muscular hypotonia - Narrow forehead - Nasal speech - Natal tooth - Oligohydramnios - Osteopathia striata - Overfolded helix - Paranasal sinus hypoplasia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Pectus excavatum - Pierre-Robin sequence - Polyhydramnios - Sclerosis of skull base - Seizures - Straight clavicles - Talipes equinovarus - Thick lower lip vermilion - Thickened calvaria - Thoracolumbar kyphosis - Tracheomalacia - Ventricular septal defect - Webbed neck - Wide intermamillary distance - 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 Pelvic dysplasia arthrogryposis of lower limbs ?

Output: What are the signs and symptoms of Pelvic dysplasia arthrogryposis of lower limbs? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelvic dysplasia arthrogryposis of lower limbs. 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) Depressed nasal bridge 90% Gait disturbance 90% Limitation of joint mobility 90% Skeletal muscle atrophy 90% Slender long bone 90% Abnormality of the hip bone 50% Blue sclerae 50% Sacrococcygeal pilonidal abnormality 50% Spina bifida occulta 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) Glycogen storage disease type 4 ?

Output: Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual. </s>


Input: What are the symptoms of Glycogen storage disease type 4 ?

Output: What are the signs and symptoms of Glycogen storage disease type 4? The signs and symptoms of glycogen storage disease type 4 (GSD 4) can vary greatly between affected individuals, and several forms of GSD 4 have been described. Most affected individuals have a "classic" form characterized by progressive cirrhosis of the liver, eventually leading to liver failure. In these individuals, signs and symptoms typically begin in infancy and include failure to grow and gain weight appropriately (failure to thrive); enlargement of the liver and spleen (hepatosplenomegaly); abnormal fluid build-up in the abdomen (ascites); and enlargement of veins in the wall of the esophagus (esophageal varices) which may rupture and cause coughing up of blood. Progressive liver disease in affected children can lead to the need for a liver transplant or life-threatening complications by approximately 5 years of age. There have been some reports of affected individuals having nonprogressive liver disease; very mildly affected individuals may not show signs and symptoms of the disease. There have also been reports of neuromuscular forms of GSD 4, most of which become apparent in late childhood. These may be characterized by skeletal muscle or heart muscle disease (myopathy or cardiomyopathy) caused by the accumulation of glycogen in the muscle tissue. Signs and symptoms in these cases may include muscle weakness or fatigue, exercise intolerance, and muscle wasting (atrophy). Complications with these forms may include heart failure. A more severe neuromuscular form that is apparent at birth has also been reported; this form may be characterized by generalized edema (swelling cause by fluid); decreased muscle tone (hypotonia); muscle weakness and wasting; joints having fixed positions (contractures); and neurologic involvement, which can cause life-threatening complications early in life. The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 4. 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% Abnormality of movement 90% Ascites 90% Hepatic failure 90% Muscular hypotonia 90% Hypertrophic cardiomyopathy 7.5% Autosomal recessive inheritance - Cardiomyopathy - Cirrhosis - Decreased fetal movement - Edema - Esophageal varix - Failure to thrive - Hepatosplenomegaly - Hydrops fetalis - Muscle weakness - Polyhydramnios - Portal hypertension - Skeletal muscle atrophy - Tubulointerstitial fibrosis - 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 Glycogen storage disease type 4 ?

Output: What causes glycogen storage disease type 4? Glycogen storage disease type 4 (GSD 4) is caused by mutations in the GBE1 gene. The GBE1 gene normally provides instructions for making the glycogen branching enzyme. This enzyme is necessary for making glycogen, a major source of stored energy in the body. Glycogen is formed by assembling many molecules of glucose. The glycogen branching enzyme is involved in the formation of "branches" of glucose chains, which help to make glycogen more compact for storage and allows it to break down more easily when it is needed for energy. The GBE1 gene mutations that cause GSD 4 lead to a decrease in the amount or functionality of the glycogen branching enzyme. Glycogen is then not formed properly, and substances called polyglucosan bodies build up in cells throughout the body, causing the signs and symptoms of the condition. </s>


Input: Is Glycogen storage disease type 4 inherited ?

Output: How is glycogen storage disease type 4 inherited? Glycogen storage disease type 4 is inherited in an autosomal recessive manner. This means that an individual must have 2 abnormal copies of the GBE1 gene to be affected (one abnormal copy inherited from each parent). Individuals with one abnormal copy of the GBE1 gene, such as the parents of an affected individual, are referred to as carriers. Carriers typically do not have signs or symptoms of an autosomal recessive condition. When two carriers of an autosomal recessive condition are having children, each of their children has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% chance to not be a carrier and not be affected. </s>


Input: What are the treatments for Glycogen storage disease type 4 ?

Output: How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications. </s>


Input: What is (are) Hydranencephaly ?

Output: Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid (CSF). Affected infants may appear and act normal at birth, but irritability and hypertonia often develop within a few weeks. Other signs and symptoms may include seizures, hydrocephalus, visual impairment, lack of growth, deafness, blindness, paralysis, and intellectual disabilities. Prognosis is typically poor with many affected children dying before one year of age. In rare cases, children may survive for several years or more. It has been suspected to be an inherited condition, although some researchers believe it may be caused by prenatal blockage of the carotid artery where it enters the cranium. Treatment is generally symptomatic and supportive; hydrocephalus may be treated with a shunt. </s>


Input: What are the treatments for Hydranencephaly ?

Output: How might hydranencephaly be treated? Unfortunately, there is no definitive treatment for hydranencephaly. Management of the condition typically focuses on the specific signs and symptoms present in the affected individual and is mostly supportive. Hydrocephalus (the buildup of too much cerebral spinal fluid in the brain) may be treated with a shunt (a surgically implanted tube that helps to drain fluid from the brain). </s>


Input: What is (are) Paget disease of bone ?

Output: Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. </s>


Input: What are the symptoms of Paget disease of bone ?

Output: What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. 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) Bilateral conductive hearing impairment 40% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Bone pain - Brain stem compression - Cranial nerve paralysis - Elevated alkaline phosphatase - Fractures of the long bones - Heterogeneous - Hydroxyprolinuria - Increased susceptibility to fractures - Long-tract signs - Osteolysis - Paraparesis - Tetraparesis - Vertebral compression fractures - 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) Ainhum ?

Output: Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions. </s>


Input: What are the symptoms of Ainhum ?

Output: What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Familial juvenile hyperuricaemic nephropathy ?

Output: Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In FJHN, the kidneys are unable to remove uric acid from the blood effectively. Beginning in the early teens, FJHN causes gout and slowly progressive kidney disease, resulting in kidney failure. People with FJHN typically require either dialysis to remove wastes from the blood or a kidney transplant. FJHN is caused by mutations in the UMOD gene and is inherited in an autosomal dominant fashion. </s>


Input: What are the symptoms of Familial juvenile hyperuricaemic nephropathy ?

Output: What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. 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 - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - 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) Fryns syndrome ?

Output: Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner. </s>


Input: What are the symptoms of Fryns syndrome ?

Output: What are the signs and symptoms of Fryns syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns 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) Anonychia 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the nipples 90% Broad forehead 90% Cognitive impairment 90% Congenital diaphragmatic hernia 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Multicystic kidney dysplasia 90% Short neck 90% Tented upper lip vermilion 90% Abnormality of the cardiac septa 50% Anteverted nares 50% Aplasia/Hypoplasia of the corpus callosum 50% Cerebral cortical atrophy 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Coarse facial features 50% Cryptorchidism 50% Hypertelorism 50% Median cleft lip 50% Non-midline cleft lip 50% Opacification of the corneal stroma 50% Polyhydramnios 50% Seizures 50% Short distal phalanx of finger 50% Tetralogy of Fallot 50% Thickened nuchal skin fold 50% Wide mouth 50% Abnormality of female internal genitalia 7.5% Abnormality of the aorta 7.5% Aganglionic megacolon 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Dandy-Walker malformation 7.5% Displacement of the external urethral meatus 7.5% Duodenal stenosis 7.5% Ectopic anus 7.5% Intestinal malrotation 7.5% Narrow chest 7.5% Omphalocele 7.5% Urogenital fistula 7.5% Vesicoureteral reflux 7.5% Abnormality of the helix - Absent left hemidiaphragm - Agenesis of corpus callosum - Anal atresia - Arrhinencephaly - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bifid scrotum - Blepharophimosis - Broad ribs - Camptodactyly - Chylothorax - Cleft upper lip - Duodenal atresia - Ectopic pancreatic tissue - Esophageal atresia - Facial hirsutism - Hydronephrosis - Hypoplasia of olfactory tract - Hypoplasia of the optic tract - Hypospadias - Intellectual disability - Joint contracture of the hand - Large for gestational age - Meckel diverticulum - Microphthalmia - Microretrognathia - Polysplenia - Prominent fingertip pads - Proximal placement of thumb - Pulmonary hypoplasia - Renal agenesis - Renal cyst - Rocker bottom foot - Shawl scrotum - Short thumb - Single transverse palmar crease - Small nail - Stillbirth - Thin ribs - Thoracic hypoplasia - Ureteral duplication - Ventricular septal defect - 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: Is Fryns syndrome inherited ?

Output: How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. </s>


Input: What is (are) Tarsal tunnel syndrome ?

Output: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. </s>


Input: What are the symptoms of Tarsal tunnel syndrome ?

Output: What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person stands, walks, or wears a particular type of shoe. Pain usually worsens during walking and is relieved by rest. </s>


Input: What causes Tarsal tunnel syndrome ?

Output: What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space within the tarsal tunnel region may cause pressure on the nerve and subsequent symptoms. Examples include tendonitis, hematoma, tumor, varicose veins, and lower extremity edema. </s>


Input: What are the treatments for Tarsal tunnel syndrome ?

Output: What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery </s>


Input: What are the symptoms of Giant platelet syndrome ?

Output: What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant 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) Abnormal bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - 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) Dextrocardia with situs inversus ?

Output: Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. </s>


Input: What causes Dextrocardia with situs inversus ?

Output: What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. However, a specific genetic cause of dextrocardia with situs inversus has not been identified and inheritance patterns have not been confirmed in most cases. Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (mutations) in several different genes, including the DNAI1 and DNAH5 gene; however, the genetic cause is unknown in many families. </s>


Input: Is Dextrocardia with situs inversus inherited ?

Output: Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. </s>


Input: How to diagnose Dextrocardia with situs inversus ?

Output: How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects. </s>


Input: What are the treatments for Dextrocardia with situs inversus ?

Output: How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections. GeneReviews offers more specific information on the treatment of Kartagener syndrome and other types of primary ciliary dyskinesia. Please click on the link to access this resource. </s>


Input: What are the symptoms of Viljoen Kallis Voges syndrome ?

Output: What are the signs and symptoms of Viljoen Kallis Voges syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Viljoen Kallis Voges 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 calvarial morphology 90% Abnormality of the palate 90% Abnormality of thumb phalanx 90% Cognitive impairment 90% Hypertonia 90% Hypoplasia of the zygomatic bone 90% Joint hypermobility 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Microcephaly 90% Prominent nasal bridge 90% Scoliosis 90% Short stature 90% Cataract 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 are the symptoms of Pili torti developmental delay neurological abnormalities ?

Output: What are the signs and symptoms of Pili torti developmental delay neurological abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti developmental delay neurological abnormalities. 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 hair texture 90% Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Cognitive impairment 90% Incoordination 90% Joint hypermobility 90% Pili torti 90% Gait disturbance 50% Muscular hypotonia 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) Hairy tongue ?

Output: Hairy tongue is a condition in which the the central top portion of the tongue presents with an abnormal coloring.  Although the abnormal coating is typically black in color, brown, yellow, and green discoloration has been described. </s>


Input: What causes Hairy tongue ?

Output: What causes hairy tongue? The exact cause is unknown; however, smoking, alcohol, dehydration, use of antibiotics, low saliva production, trigeminal neuralgia, poor oral hygiene and cranial radiation therapy have shown to bring about hairy tongue. </s>


Input: What are the treatments for Hairy tongue ?

Output: What treatment is available for hairy tongue? Although hairy tongue normally resolves on its own, patients are encouraged to avoid the factors that have been shown to bring about hairy tongue. Treatment usually involves gentle cleaning of the tongue with a soft toothbrush.  Medication is rarely prescribed for hairy tongue; however, in severe cases, antifungals, retinoids or mouthwashes may be used.  If treatment fails, the affected portion of the tongue called the papillae (finger-like projections) may be clipped or removed using techniques such as carbon dioxide laser burning or electrodesiccation (a procedure in which an electrical current is used to seal of the affected area). </s>


Input: What are the symptoms of Nystagmus 3, congenital, autosomal dominant ?

Output: What are the signs and symptoms of Nystagmus 3, congenital, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 3, congenital, autosomal dominant. 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 - Horizontal jerk nystagmus - 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) Filippi syndrome ?

Output: Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known. </s>


Input: What are the symptoms of Filippi syndrome ?

Output: What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak. Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet. Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted. The Human Phenotype Ontology provides the following list of signs and symptoms for Filippi 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) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Finger syndactyly 90% Microcephaly 90% Neurological speech impairment 90% Prominent nasal bridge 90% Short stature 90% Underdeveloped nasal alae 90% Delayed skeletal maturation 50% Frontal bossing 50% Single transverse palmar crease 50% Hypertrichosis 5% Hypodontia 5% Sparse hair 5% 2-4 toe syndactyly - Autosomal recessive inheritance - Broad forehead - Cerebellar atrophy - Decreased body weight - Dystonia - Intellectual disability - Intrauterine growth retardation - Microdontia - Optic atrophy - Postnatal growth retardation - Proptosis - Seizures - Short philtrum - Thin vermilion border - Ventricular septal defect - Visual impairment - 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 treatments for Filippi syndrome ?

Output: How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals. In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities associated with the disorder. The surgical procedures performed will depend upon the severity of the abnormalities, their associated symptoms, and other factors. </s>


Input: What is (are) Carnitine palmitoyltransferase 2 deficiency ?

Output: Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet. </s>


Input: What are the symptoms of Carnitine palmitoyltransferase 2 deficiency ?

Output: What are the signs and symptoms of Carnitine palmitoyltransferase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine palmitoyltransferase 2 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) Elevated hepatic transaminases 90% Hepatomegaly 90% Hypertrophic cardiomyopathy 90% Muscle weakness 90% Myalgia 90% Myopathy 90% Seizures 90% Cerebral calcification 50% Multicystic kidney dysplasia 50% Renal insufficiency 50% Encephalitis 7.5% Hypoglycemia 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) C1q nephropathy ?

Output: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. C1q is a normal protein in the immune system, and can be found floating in the circulation of most healthy people. In C1q nephropathy, however, this protein can also be found deposited throughout the kidneys. It has been thought to be a subgroup of primary focal segmental glomerulosclerosis or to be a combination of several disease groups rather than a single disease. As a disease, it is very similar to minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). Criteria diagnosis includes C1q deposits on the kidney and no evidence of systemic lupus erythematosus. Both children and adult patients may have no symptoms, except for the presence of blood or protein in the urine, or  present with swelling of the feet and legs, high blood pressure and kidney insufficiency. The treatment of C1q nephropathy is the same as for MCD or FSGS and includes corticosteroids and other immunosuppressive agents. Further research is needed to establish C1q nephropathy as a recognized distinct clinical entity. </s>


Input: What are the symptoms of Hall Riggs mental retardation syndrome ?

Output: What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation 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) Anteverted nares 90% Cognitive impairment 90% Epicanthus 90% Microcephaly 90% Neurological speech impairment 90% Short stature 90% Thick lower lip vermilion 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Coarse hair 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Hypertelorism 50% Limb undergrowth 50% Nausea and vomiting 50% Platyspondyly 50% Scoliosis 50% Seizures 50% Slow-growing hair 50% Wide mouth 50% Abnormality of dental enamel 7.5% Delayed eruption of teeth 7.5% Limitation of joint mobility 7.5% Absent speech - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive - Feeding difficulties in infancy - Hypoplasia of dental enamel - Hypoplasia of the primary teeth - Intellectual disability - Intrauterine growth retardation - Irregular vertebral endplates - Kyphosis - Metaphyseal dysplasia - Microdontia of primary teeth - Osteoporosis - Prominent nose - U-Shaped upper lip vermilion - 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) Ocular cicatricial pemphigoid ?

Output: Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCP generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. </s>


Input: What are the symptoms of Ocular cicatricial pemphigoid ?

Output: What are the signs and symptoms of Ocular cicatricial pemphigoid? The Human Phenotype Ontology provides the following list of signs and symptoms for Ocular cicatricial pemphigoid. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Autoimmunity 90% Inflammatory abnormality of the eye 90% Abnormality of reproductive system physiology 50% Atypical scarring of skin 50% Gingivitis 50% Opacification of the corneal stroma 7.5% Visual impairment 7.5% Abnormality of the eye - 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 Anencephaly and spina bifida X-linked ?

Output: What are the signs and symptoms of Anencephaly and spina bifida X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly and spina bifida X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anencephaly - Spina bifida - X-linked 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 Premature ovarian failure, familial ?

Output: What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. 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 - Increased circulating gonadotropin level - Menstrual irregularities - Premature ovarian failure - X-linked 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 Paralysis agitans, juvenile, of Hunt ?

Output: What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. 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 - Autosomal dominant inheritance - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - 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) Intracranial arteriovenous malformation ?

Output: Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain.  Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery. </s>


Input: What are the symptoms of Small cell carcinoma of the bladder ?

Output: What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. 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) Hematuria 90% Urinary tract neoplasm 90% Abdominal pain 7.5% Hypercalcemia 7.5% Recurrent urinary tract infections 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Factor XIII deficiency ?

Output: Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia. </s>


Input: What are the symptoms of Factor XIII deficiency ?

Output: What are the signs and symptoms of Factor XIII deficiency? Factor XIII deficiency causes internal bleeding. The blood may seep into surrounding soft tissues several days after trauma, even mild trauma such as a bump or bruise. Pain and swelling may occur at the injury site prior to bleeding. If the bleeding continues, large cysts may form in the surrounding tissue that may destroy bone and cause peripheral nerve damage, usually in the thigh and buttocks areas. At birth, an infant with Factor XIII deficiency may bleed from the umbilical cord, which rarely occurs in other blood clotting disorders. The most serious hemorrhaging that can occur in Factor XIII deficiency is in the central nervous system (i.e., brain and spinal cord) following mild head trauma. This can occur in about 25 percent of affected individuals. In some cases, hemorrhaging may stop spontaneously without treatment. Females with Factor XIII deficiency who become pregnant are at high risk for miscarriage if they do not receive appropriate treatment. Men with this disorder may be sterile or have extremely low sperm counts. Replacing Factor XIII in these men does not correct sterility. Some of the less frequently seen symptoms are poor wound healing, excessive bleeding from wounds, blood blisters attached to the abdominal wall (retroperitoneal hematomas), and/or blood in the urine (hematuria).Some symptoms are seldom or never seen in people with Factor XIII deficiency, which may help to distinguish it from other bleeding disorders. These may include excessive blood loss during menstruation, hemorrhages within the eye, gastrointestinal bleeding, arthritis caused by an accumulation of blood in the joints, excessive bleeding after surgery, bleeding from mucous membranes, and/or tiny red spots on the skin. Factor XIII deficiency is not generally a threat to those who need surgery. The small amount of Factor XIII present in blood transfusions generally prevents bleeding. Excessive bleeding from wounds, abrasions, or even spontaneous abortions is not common unless a person with this disorder uses aspirin or similar medications. The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XIII 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) Abnormal umbilical stump bleeding - Autosomal recessive inheritance - Bruising susceptibility - Congenital onset - Epistaxis - Intracranial hemorrhage - Joint hemorrhage - Prolonged bleeding after surgery - Reduced factor XIII activity - Spontaneous hematomas - 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 Factor XIII deficiency ?

Output: How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. In February 2011, the US Food and Drug Administration approved Corifact, a product manufactured by CSL Behring of Marburg, Germany, to prevent bleeding in people with congenital Factor XIII deficiency. Corifact is made from the pooled plasma of healthy donors. It can be used for individuals with absent or decreased levels of FXIII.  People receiving Corifact may develop antibodies against Factor XIII that may make the product ineffective. It potentially can cause adverse events from abnormal clotting if doses higher than the labeled dose are given to patients. Cryoprecipitate should not be used to treat patients with factor XIII deficiency except in life- and limb-threatening emergencies when Factor XIII concentrate is not immediately available. </s>


Input: What is (are) Chondrodysplasia punctata 1, X-linked recessive ?

Output: Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. </s>


Input: What are the symptoms of Chondrodysplasia punctata 1, X-linked recessive ?

Output: What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. 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 vertebral column - Anosmia - Cataract - Depressed nasal bridge - Epiphyseal stippling - Hearing impairment - Hypogonadism - Ichthyosis - Microcephaly - Short distal phalanx of finger - Short nasal septum - Short nose - Short stature - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) C syndrome ?

Output: C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene. </s>


Input: What are the symptoms of C syndrome ?

Output: What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C 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) Anteverted nares 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Depressed nasal bridge 90% Epicanthus 90% Female pseudohermaphroditism 90% Gingival overgrowth 90% Hypoplasia of the ear cartilage 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Narrow forehead 90% Short neck 90% Short nose 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Abnormality of immune system physiology 50% Cutis laxa 50% Joint dislocation 50% Limitation of joint mobility 50% Micromelia 50% Muscular hypotonia 50% Pectus excavatum 50% Sacral dimple 50% Seizures 50% Short stature 50% Single transverse palmar crease 50% Strabismus 50% Talipes 50% Thin vermilion border 50% Urogenital fistula 50% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Constipation 7.5% Hand polydactyly 7.5% Multicystic kidney dysplasia 7.5% Omphalocele 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Toe syndactyly 7.5% Accessory oral frenulum - Autosomal recessive inheritance - Clinodactyly - Clitoromegaly - Delayed skeletal maturation - Dislocated radial head - Failure to thrive - Fused sternal ossification centers - Hepatomegaly - High palate - Hip dislocation - Low-set ears - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Posteriorly rotated ears - Radial deviation of finger - Renal cortical cysts - Scoliosis - Short metacarpal - Thick anterior alveolar ridges - Ulnar deviation of finger - Ventricular septal defect - Wide mouth - 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 Trichothiodystrophy nonphotosensitive ?

Output: What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. 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: What are the symptoms of Mucopolysaccharidosis type IV ?

Output: What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Carney complex ?

Output: Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. </s>


Input: What are the symptoms of Carney complex ?

Output: What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. 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 pigmentation of the oral mucosa 90% Growth hormone excess 90% Gynecomastia 90% Hypercortisolism 90% Melanocytic nevus 90% Neoplasm of the adrenal gland 90% Neoplasm of the heart 90% Neoplasm of the skin 90% Neoplasm of the thyroid gland 90% Testicular neoplasm 90% Abnormality of adipose tissue 50% Abnormality of temperature regulation 50% Arthralgia 50% Behavioral abnormality 50% Broad foot 50% Cerebral ischemia 50% Coarse facial features 50% Congestive heart failure 50% Hypertension 50% Hypertrichosis 50% Joint swelling 50% Kyphosis 50% Large hands 50% Neoplasm of the breast 50% Osteoarthritis 50% Reduced bone mineral density 50% Round face 50% Skeletal muscle atrophy 50% Thin skin 50% Truncal obesity 50% Type II diabetes mellitus 50% Anemia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Mitral stenosis 7.5% Neoplasm of the nervous system 7.5% Ovarian neoplasm 7.5% Precocious puberty 7.5% Striae distensae 7.5% Sudden cardiac death 7.5% Tall stature 7.5% Weight loss 7.5% Abnormality of the eye - Autosomal dominant inheritance - Freckling - Hirsutism - Myxoid subcutaneous tumors - Nevus - Pheochromocytoma - Pituitary adenoma - Profuse pigmented skin lesions - Red hair - Schwannoma - Thyroid carcinoma - Thyroid follicular hyperplasia - 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) Long QT syndrome 1 ?

Output: Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion. </s>


Input: What are the symptoms of Long QT syndrome 1 ?

Output: What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 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) Abnormality of the ear - Autosomal dominant inheritance - Heterogeneous - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - 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 Leber congenital amaurosis 5 ?

Output: What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. 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 - Hypermetropia - Nystagmus - Undetectable electroretinogram - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Localized scleroderma ?

Output: Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling. There are two generally recognized types of localized scleroderma: morphea and linear. </s>


Input: What are the symptoms of Localized scleroderma ?

Output: What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area.  The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth. Patches appear most often on the chest, stomach, and back. Sometimes they appear on the face, arms, and legs. Morphea usually affects only the uppermost layers of your skin, but in some cases may involve fatty or connective tissue below your skin. Morphea can be either localized or generalized. Localized morphea limits itself to one or several patches, ranging in size from a half-inch to 12 inches in diameter. The condition sometimes appears on areas treated by radiation therapy. Some people have both morphea and linear scleroderma (which is characterized by a single line or band of thickened and/or abnormally colored skin). The disease is referred to as generalized morphea when the skin patches become very hard and dark and spread over larger areas of the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Localized scleroderma. 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% Hypopigmented skin patches 90% Skeletal muscle atrophy 50% Camptodactyly of toe 7.5% Lower limb asymmetry 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Localized scleroderma ?

Output: What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection between morphea and infection, such as measles or chickenpox, but recent research doesn't support this theory. Other factors that may be associated with the onset of morphea include radiation therapy or repeated trauma to the affected area. </s>


Input: What are the treatments for Localized scleroderma ?

Output: How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea involving only the skin who want treatment, treatment may involve UVA1 phototherapy (or else broad band UVA, narrow band UVB, or PUVA), tacrolimus ointment, or steroid shots. Other treatment options include high potency steroid creams, vitamin D analog creams, or imiquimod. If a persons morphea is rapidly progressive, severe, or causing significant disability treatment options may include systemic steroids (glucocorticoids) and methotrexate. People with morphea should be monitored for joint changes and referred for physical and occupational therapy as appropriate. </s>


Input: What is (are) Paroxysmal nocturnal hemoglobinuria ?

Output: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia. </s>


Input: What is (are) Megalocytic interstitial nephritis ?

Output: Megalocytic interstitial nephritis is a rare chronic kidney disease that is characterized by inflammation of the kidney. It is similar to malakoplakia of the kidney. In this condition the inflammation is caused by various infiltrate, particularly histiocytes. A histiocyte is a type of immune cell that eats foreign substances in an effort to protect the body from infection. </s>


Input: What are the symptoms of Megalocytic interstitial nephritis ?

Output: What are the symptoms of interstitial nephritis? Symptoms of interstitial nephritis may include blood in the urine, fever, increased or decreased urine output, mental status changes (drowsiness, confusion, coma), nausea, vomiting, rash, swelling of the body, and weight gain (from retaining fluid). </s>


Input: What causes Megalocytic interstitial nephritis ?

Output: What causes malakoplakia? The cause of malakoplakia is unknown, but is thought to be associated with immunodeficiency or autoimmune disorders, such as hypogammaglobinlinemia, therapies that suppress the immune system, cancer, a chronic debilitating disorder, rheumatoid arthritis, and AIDS. </s>


Input: What is (are) Sideroblastic anemia pyridoxine-refractory autosomal recessive ?

Output: Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia. It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine). </s>


Input: What are the symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive ?

Output: What are the signs and symptoms of Sideroblastic anemia pyridoxine-refractory autosomal recessive? The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected. In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time. The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. 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 - Heterogeneous - Increased serum ferritin - Infantile onset - 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 Sideroblastic anemia pyridoxine-refractory autosomal recessive ?

Output: What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance. </s>