Input: What are the symptoms of Glomus tympanicum tumor ?

Output: What are the signs and symptoms of Glomus tympanicum tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomus tympanicum tumor. 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) Adrenal pheochromocytoma - Adult onset - Anxiety (with pheochromocytoma) - Autosomal dominant inheritance - Chemodectoma - Conductive hearing impairment - Diaphoresis (with pheochromocytoma) - Elevated circulating catecholamine level - Extraadrenal pheochromocytoma - Glomus jugular tumor - Glomus tympanicum paraganglioma - Headache (with pheochromocytoma) - Hoarse voice (caused by tumor impingement) - Hyperhidrosis - Hypertension associated with pheochromocytoma - Loss of voice - Palpitations - Palpitations (with pheochromocytoma) - Paraganglioma-related cranial nerve palsy - Pulsatile tinnitus (tympanic paraganglioma) - Tachycardia - Tachycardia (with pheochromocytoma) - Vagal paraganglioma - Vocal cord paralysis (caused by tumor impingement) - 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) Nuclear Gene-Encoded Leigh Syndrome ?

Output: Nuclear gene-encoded Leigh syndrome is a progressive neurological disease. It usually first becomes apparent in infancy with developmental delay or regression. Rarely, the disease begins in adolescence or adulthood. Symptoms progress to include generalized weakness, lack of muscle tone, spasticity, movement disorders, cerebellar ataxia, and peripheral neuropathy. Other signs and symptoms may include an increase in the heart muscle size (hypertrophic cardiomyopathy); excessive body hair (hypertrichosis); anemia; kidney or liver problems; and lung or heart failure. Nuclear gene-encoded Leigh syndrome (and Leigh-like syndrome, a term used for cases with similar features but that do not fulfill the diagnostic criteria for Leigh syndrome) may be caused by mutations in any of several genes and can be inherited in an autosomal recessive or X-linked manner. While treatment for some cases of Leigh-like syndrome may be available, management is generally supportive and focuses on the symptoms present. </s>


Input: What are the symptoms of Growth hormone insensitivity with immunodeficiency ?

Output: What are the signs and symptoms of Growth hormone insensitivity with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Growth hormone insensitivity with immunodeficiency. 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 facial shape 90% Abnormality of lipid metabolism 90% Insulin resistance 90% Microcephaly 90% Short stature 90% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Fine hair 50% Hypoglycemia 50% Hypoplasia of penis 50% Type II diabetes mellitus 50% Abnormality of immune system physiology 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Abnormality of the nail 7.5% Abnormality of the voice 7.5% Cognitive impairment 7.5% Diabetes insipidus 7.5% Hearing impairment 7.5% Truncal obesity 7.5% Growth hormone deficiency - Respiratory difficulties - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Infantile myofibromatosis ?

Output: What are the signs and symptoms of Infantile myofibromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile myofibromatosis. 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 metaphyses 90% Abnormality of the musculature 90% Bone cyst 90% Neoplasm of the skeletal system 90% Sarcoma 90% Abnormality of the skull 50% Abnormality of the thorax 50% Chondrocalcinosis 50% Gingival overgrowth 50% Neoplasm of the lung 50% Abnormality of the eye 7.5% Abnormality of the kidney 7.5% Abnormality of the sacrum 7.5% Benign neoplasm of the central nervous system 7.5% Hemiplegia/hemiparesis 7.5% Hypercalcemia 7.5% Intestinal obstruction 7.5% Irregular hyperpigmentation 7.5% Limitation of joint mobility 7.5% Neoplasm of the pancreas 7.5% Osteolysis 7.5% Skin ulcer 7.5% Tracheoesophageal fistula 7.5% Abnormality of connective tissue - Autosomal dominant inheritance - Fibroma - 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 Cobb syndrome ?

Output: What are the signs and symptoms of Cobb syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cobb 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) Arteriovenous malformation 90% Arthralgia 90% Bone pain 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Lymphangioma 90% Morphological abnormality of the central nervous system 90% Visceral angiomatosis 90% Hyperkeratosis 50% Multiple lipomas 50% Abnormality of the urinary system 7.5% Congestive heart failure 7.5% Gangrene 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) Microcephaly ?

Output: Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life. </s>


Input: What is (are) 17q23.1q23.2 microdeletion syndrome ?

Output: 17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Most cases are approximately 2.2 Mb in size and include the transcription factor genes TBX2 and TBX4 which have been implicated in a number of developmental pathways, including those of the heart and limbs. </s>


Input: What are the symptoms of 17q23.1q23.2 microdeletion syndrome ?

Output: What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in particular delays in speech. Most have had heart defects, including patent ductus arteriosus or atrial septal defects. Limb abnormalities include long, thin fingers and toes, and hypoplasia (underdevelopment) of the patellae (knee caps). Scoliosis may also be present. Many patients have also had mild and unspecific unusual facial features. The Human Phenotype Ontology provides the following list of signs and symptoms for 17q23.1q23.2 microdeletion 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) Arachnodactyly 90% Cognitive impairment 90% Long toe 90% Frontal bossing 50% Intrauterine growth retardation 50% Microcephaly 50% Neurological speech impairment 50% Patent ductus arteriosus 50% Pulmonary hypertension 50% Short stature 50% Abnormality of epiphysis morphology 7.5% Abnormality of the eyelashes 7.5% Abnormality of the hip bone 7.5% Abnormality of the teeth 7.5% Atria septal defect 7.5% Behavioral abnormality 7.5% Blepharitis 7.5% Camptodactyly of toe 7.5% Clinodactyly of the 5th finger 7.5% Depressed nasal bridge 7.5% Epicanthus 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hyperreflexia 7.5% Hypertelorism 7.5% Limitation of joint mobility 7.5% Low-set, posteriorly rotated ears 7.5% Malar flattening 7.5% Midline defect of the nose 7.5% Muscular hypotonia 7.5% Narrow mouth 7.5% Otitis media 7.5% Patellar aplasia 7.5% Pes planus 7.5% Respiratory insufficiency 7.5% Sacral dimple 7.5% Sandal gap 7.5% Scoliosis 7.5% Shawl scrotum 7.5% Single transverse palmar crease 7.5% Strabismus 7.5% Abnormal facial shape - Aggressive behavior - Bicuspid aortic valve - Intellectual disability, mild - Long fingers - Postnatal growth retardation - Slender finger - Small for gestational age - Sporadic - 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 17q23.1q23.2 microdeletion syndrome ?

Output: What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in a variety of developmental pathways including those of heart and limbs, are found within this 2.2Mb region. This suggests that they may play a part in the symptoms seen in this condition. </s>


Input: Is 17q23.1q23.2 microdeletion syndrome inherited ?

Output: Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family. </s>


Input: How to diagnose 17q23.1q23.2 microdeletion syndrome ?

Output: How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). </s>


Input: What is (are) Hyperprolinemia type 2 ?

Output: Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals. </s>


Input: What are the symptoms of Hyperprolinemia type 2 ?

Output: What are the signs and symptoms of Hyperprolinemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperprolinemia type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hydroxyprolinuria - Hyperglycinuria - Hyperprolinemia - Intellectual disability - Prolinuria - 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 are the treatments for Hyperprolinemia type 2 ?

Output: How might hyperprolinemia type 2 be treated? There is no specific treatment for hyperprolinemia type 2, even for those individuals who experience seizures. In general, if people with hyperprolinemia type 2 have symptoms, they are usually mild and do not require treatment. If seizures are present during childhood, they tend to disappear in adulthood. Attempts to reduce the amount of proline in an affected person's diet have resulted in only modest control of proline levels in the blood and have not reduced symptoms. </s>


Input: What are the symptoms of Krabbe disease atypical due to Saposin A deficiency ?

Output: What are the signs and symptoms of Krabbe disease atypical due to Saposin A deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Krabbe disease atypical due to Saposin A 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) Autosomal recessive inheritance - Central apnea - Cerebral dysmyelination - Death in childhood - Global brain atrophy - Hypertonia - Hyporeflexia - Increased CSF protein - Infantile onset - Respiratory failure - 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) Hydrops fetalis ?

Output: Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling. Severe swelling can interfere with how the body organs work. Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner syndrome. The exact cause depends on which form a baby has. </s>


Input: What are the symptoms of Hydrops fetalis ?

Output: What are the signs and symptoms of Hydrops fetalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrops fetalis. 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 heme biosynthetic pathway 90% Anemia 90% Congestive heart failure 90% Hydrops fetalis 90% Pallor 90% Hepatomegaly 50% Hydrocephalus 50% Oligohydramnios 50% Polyhydramnios 50% Splenomegaly 50% Toxemia of pregnancy 50% Abnormality of the pericardium 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Conotruncal heart malformations ?

Output: What are the signs and symptoms of Conotruncal heart malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Conotruncal heart malformations. 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) Tetralogy of Fallot 90% Transposition of the great arteries 90% Abnormality of the aorta 50% Abnormality of the pulmonary artery 50% Patent ductus arteriosus 50% Hypertelorism 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Broad hallux - Coarctation of aorta - Complete atrioventricular canal defect - Double outlet right ventricle - Postaxial polydactyly - Truncus arteriosus - 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 Chondrodysplasia acromesomelic with genital anomalies ?

Output: What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - 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) Unverricht-Lundborg disease ?

Output: Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern. </s>


Input: What are the symptoms of Unverricht-Lundborg disease ?

Output: What are the signs and symptoms of Unverricht-Lundborg disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Unverricht-Lundborg disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence seizures - Ataxia - Autosomal recessive inheritance - Dysarthria - Generalized tonic-clonic seizures - Mental deterioration - Myoclonus - 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) Stickler syndrome type 1 ?

Output: Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner. </s>


Input: What are the symptoms of Stickler syndrome type 1 ?

Output: What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal dysplasia - 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) Pemphigus vulgaris ?

Output: Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknown. It has rarely been observed in multiple members of the same family. Treatment is aimed at reducing symptoms and preventing complications. Severe cases are treated similarly to severe burns. </s>


Input: What causes Pemphigus vulgaris ?

Output: What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary. </s>


Input: What are the symptoms of Scapuloperoneal syndrome, neurogenic, Kaeser type ?

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


Input: What are the symptoms of Bixler Christian Gorlin syndrome ?

Output: What are the signs and symptoms of Bixler Christian Gorlin syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bixler Christian Gorlin 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) Atresia of the external auditory canal 90% Hypertelorism 90% Microcephaly 90% Oral cleft 90% Abnormal localization of kidney 50% Cognitive impairment 50% Conductive hearing impairment 50% Short stature 50% 2-3 toe syndactyly - Abnormality of cardiovascular system morphology - Abnormality of the vertebrae - Autosomal recessive inheritance - Bifid nose - Broad nasal tip - Cleft palate - Cleft upper lip - Ectopic kidney - Facial cleft - Microtia - Narrow mouth - Short 5th finger - Small thenar eminence - 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 Symmetrical thalamic calcifications ?

Output: What are the signs and symptoms of Symmetrical thalamic calcifications? The Human Phenotype Ontology provides the following list of signs and symptoms for Symmetrical thalamic calcifications. 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 voice 90% Cerebral calcification 90% Cognitive impairment 90% EEG abnormality 90% Hypertonia 90% Microcephaly 50% Polyhydramnios 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) Laing distal myopathy ?

Output: Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk.  Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. </s>


Input: What are the symptoms of Laing distal myopathy ?

Output: What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. 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) Dilated cardiomyopathy 7.5% Proximal muscle weakness 7.5% Amyotrophy of ankle musculature - Autosomal dominant inheritance - Childhood onset - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: neuropathic changes - Facial palsy - Gait disturbance - High palate - Infantile onset - Mildly elevated creatine phosphokinase - Myalgia - Neck muscle weakness - Pes cavus - Phenotypic variability - Ragged-red muscle fibers - Scoliosis - Slow progression - Toe extensor amyotrophy - Type 1 muscle fiber predominance - Weakness of long finger extensor muscles - 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) Inflammatory breast cancer ?

Output: Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions. </s>


Input: What is (are) Osteogenesis imperfecta type I ?

Output: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance. </s>


Input: What are the symptoms of Osteogenesis imperfecta type I ?

Output: What are the signs and symptoms of Osteogenesis imperfecta type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dentinogenesis imperfecta 5% Aortic dilatation - Autosomal dominant inheritance - Biconcave flattened vertebrae - Blue sclerae - Bruising susceptibility - Femoral bowing - Growth abnormality - Hearing impairment - Increased susceptibility to fractures - Joint hypermobility - Mitral valve prolapse - Osteopenia - Otosclerosis - Recurrent fractures - Thin skin - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Immunodeficiency with hyper IgM type 5 ?

Output: What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 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 - Epididymitis - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Increased IgM level - Lymphadenopathy - Recurrent bacterial infections - Recurrent upper and lower respiratory tract infections - 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) Turner syndrome ?

Output: Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a "webbed" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant. </s>


Input: What are the symptoms of Turner syndrome ?

Output: What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 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 Turner syndrome ?

Output: What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women. </s>


Input: Is Turner syndrome inherited ?

Output: Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional. </s>


Input: What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?

Output: What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Cardiomyopathy dilated with woolly hair and keratoderma ?

Output: What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. 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) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - 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) Glioma ?

Output: Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy. </s>


Input: What is (are) Pelizaeus-Merzbacher disease ?

Output: Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms. </s>


Input: What are the symptoms of Pelizaeus-Merzbacher disease ?

Output: What are the signs and symptoms of Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is divided into classic and severe (connatal) types. Although these two types differ in severity, their symptoms can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills such as crawling or walking. As the child gets older, nystagmus may improve, but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), and involuntary jerking (choreiform movements). Cognitive abilities may be impaired, but speech and language are usually present. Severe or connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms are usually present at birth or develop in the first few weeks of life. Features include nystagmus, problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures. Children often have short stature and poor weight gain. Those affected with connatal Pelizaeus-Merzbacher disease don't walk or develop effective use of their upper limbs. Verbal expression is usually severely affected, but comprehension may be significant. The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nystagmus 100% Psychomotor deterioration 100% Abnormal pyramidal signs 90% Ataxia 90% Behavioral abnormality 90% Cerebral cortical atrophy 90% Decreased body weight 90% Developmental regression 90% Dystonia 90% Gait disturbance 90% Hypertonia 90% Incoordination 90% Kyphosis 90% Limitation of joint mobility 90% Muscular hypotonia 90% Optic atrophy 90% Premature birth 90% Progressive spastic quadriplegia 90% Scoliosis 90% Slow progression 90% Visual impairment 90% Choreoathetosis 75% Dysarthria 75% Dysphagia 75% Reduction of oligodendroglia 75% Sudanophilic leukodystrophy 75% Abnormality of the urinary system 50% Abnormality of visual evoked potentials 50% Arteriovenous malformation 50% Bowel incontinence 50% Chorea 50% Cognitive impairment 50% Delayed speech and language development 50% Failure to thrive 50% Head titubation 50% Hearing impairment 50% Microcephaly 50% Neurological speech impairment 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Seizures 50% Short stature 50% Congenital laryngeal stridor 7.5% Peripheral neuropathy 7.5% Hyporeflexia 4/7 Cerebral dysmyelination - Infantile onset - Intellectual disability - Rotary nystagmus - Scanning speech - Tremor - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Pelizaeus-Merzbacher disease ?

Output: What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause dysmyelination, which can impair nervous system function, resulting in the signs and symptoms of Pelizaeus-Merzbacher disease. It is estimated that 5 percent to 20 percent of people with Pelizaeus-Merzbacher disease do not have identified mutations in the PLP1 gene. In these cases, the cause of the condition is unknown. </s>


Input: Is Pelizaeus-Merzbacher disease inherited ?

Output: How is Pelizaeus-Merzbacher disease inherited? </s>


Input: What are the treatments for Pelizaeus-Merzbacher disease ?

Output: How might Pelizaeus-Merzbacher disease be treated? </s>


Input: What are the symptoms of Dystelephalangy ?

Output: What are the signs and symptoms of Dystelephalangy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystelephalangy. 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 - Curved distal phalanx of the 5th finger - 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) Primrose syndrome ?

Output: Primrose syndrome is characterized by severe learning disabilities, bony ear cartilage, a hard bony growth in the roof of the mouth, cystic changes on the top of the upper arm and leg bones, cataracts, hearing loss, adult-onset progressive ataxia and nervous system disease, and brain calcification. The cause of the condition is currently unknown. Treatment is supportive. </s>


Input: What are the symptoms of Primrose syndrome ?

Output: What are the signs and symptoms of Primrose syndrome? Signs and symptoms of primrose syndrome that have been reported in the literature include: Severe learning disabilities Boney ear cartilage Cystic changes in to top of the arm and leg bones Cataracts (clouding of the lens of the eyes) Recurrent ear infections Hearing loss  Pogressive ataxia (uncoordinated movement) often with onset in   Pyramidal signs (which shows there is a problem with the nervous system) Muscle wasting of the lower limbs Torus palatinus (a hard bony growth in the roof of the mouth) Brain calcification (mineral deposits in the brain) Sparse hair Unique facial features (e.g., deep-set eyes, protruding lower jaw, droopy eyelids) Schizophrenia and a germ cell tumor was also reported in isolated cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Primrose 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 form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the palate 90% Anemia 90% Bone cyst 90% Calcification of the auricular cartilage 90% Cataract 90% Cognitive impairment 90% Conductive hearing impairment 90% Developmental regression 90% Gait disturbance 90% Hydrocephalus 90% Kyphosis 90% Macrotia 90% Myopathy 90% Osteolysis 90% Scoliosis 90% Abnormality of the testis 50% Anonychia 50% Gynecomastia 50% Malar flattening 50% Narrow chest 50% Pectus excavatum 50% Plagiocephaly 50% Seizures 50% Short stature 50% Synophrys 50% Aggressive behavior 5% Autism 5% Bilateral cryptorchidism 5% Cerebral calcification 5% Self-injurious behavior 5% Absent axillary hair - Absent facial hair - Basilar impression - Brachycephaly - Broad forehead - Deeply set eye - Distal amyotrophy - Generalized osteoporosis - Genu valgum - Hearing impairment - Hip contracture - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Irregular vertebral endplates - Knee flexion contracture - Macrocephaly - Muscular hypotonia - Narrow iliac wings - Neurodegeneration - Pes cavus - Posterior polar cataract - Posterior scalloping of vertebral bodies - Ptosis - Short distal phalanx of finger - Sporadic - Superiorly displaced ears - Thick lower lip vermilion - Truncal obesity - 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 Primrose syndrome ?

Output: What causes primrose syndrome? The cause of primrose syndrome is currently unknown. Cases of affected males and a affected female have been reported in the literature. All cases seem to be sporadic. Sporadic refers to either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. </s>


Input: What are the symptoms of Lateral meningocele syndrome ?

Output: What are the signs and symptoms of Lateral meningocele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lateral meningocele 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) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - 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 NADH cytochrome B5 reductase deficiency ?

Output: What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase 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) Autosomal recessive inheritance - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - 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 Lethal congenital contracture syndrome 1 ?

Output: What are the signs and symptoms of Lethal congenital contracture syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal congenital contracture 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 hip bone 90% Aplasia/Hypoplasia of the lungs 90% Hypertelorism 90% Short stature 90% Skeletal muscle atrophy 90% Abnormal cortical bone morphology 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Amniotic constriction ring 50% Limitation of joint mobility 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Recurrent fractures 50% Short neck 50% Slender long bone 50% Webbed neck 50% Abnormal form of the vertebral bodies 7.5% Abnormality of the amniotic fluid - Abnormality of the thorax - Autosomal recessive inheritance - Edema - Hypoplasia of the musculature - Neonatal death - Paucity of anterior horn motor neurons - Pulmonary hypoplasia - Widening of cervical spinal canal - 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) Ribbing disease ?

Output: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone. Ribbing disease affects women more frequently than men. The most common symptom is pain. A single study of 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function). The cause of the condition is currently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion. Optimal treatment for the disease is largely unknown. There have been case reports describing treatment of Ribbing disease with bisphosphonate pamidronate. Results have been mixed. The condition often resolves on its own; however cases of progressive disease have been described. </s>


Input: What are the symptoms of Ribbing disease ?

Output: What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Diaphyseal sclerosis - 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 Gastric lymphoma ?

Output: What are the signs and symptoms of Gastric lymphoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastric lymphoma. 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) Gastric lymphoma - 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) Heparin-induced thrombocytopenia ?

Output: Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of  greater than 50% and/or the formation of new blood clots during heparin therapy.  The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants). </s>


Input: What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?

Output: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treated by suppressing the immune system with steroids. </s>


Input: What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?

Output: How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary to continue treatment that suppresses the immune system. Long term treatment may include a low dose of oral steroids and another type of immune suppressant, such as methotrexate or rituximab. Because there have been very few patients with CLIPPERS reported in medical journals, the best course of treatment has not yet been determined. </s>


Input: What is (are) Lentigo maligna melanoma ?

Output: Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults.  The average age of diagnosis is 65.  LMM is thought to be caused by a history of sun exposure to the affected area.  Treatment includes surgery to remove as much of the LMM as possible. </s>


Input: What are the symptoms of Malignant hyperthermia susceptibility type 3 ?

Output: What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility 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) Alcohol-induced rhabdomyolysis - Anesthetic-induced rhabdomylosis - Elevated serum creatine phosphokinase - Exercise-induced rhabdomyolysis - Fever - Heterogeneous - Hyperkalemia - Hyperphosphatemia - Hypertonia - Lactic acidosis - Malignant hyperthermia - Myopathy - Viral infection-induced rhabdomyolysis - 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) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?

Output: Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown. </s>


Input: What are the symptoms of Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?

Output: What are the symptoms of polymicrogyria? A wide variety of symptoms may be observed in people with polymicrogyria, including: Cognitive deficits Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech Drooling </s>


Input: What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ?

Output: What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely. </s>


Input: What are the symptoms of Macular dystrophy, atypical vitelliform ?

Output: What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - 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 Tukel syndrome ?

Output: What are the signs and symptoms of Tukel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel 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) Autosomal recessive inheritance - Carpal bone aplasia - Carpal synostosis - Compensatory chin elevation - Congenital fibrosis of extraocular muscles - Nonprogressive restrictive external ophthalmoplegia - Postaxial oligodactyly - Ptosis - Restrictive external ophthalmoplegia - Syndactyly - 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 Leiomyoma of vulva and esophagus ?

Output: What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. 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 - Clitoromegaly - Esophageal obstruction - 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) KBG syndrome ?

Output: KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically. </s>


Input: What are the symptoms of KBG syndrome ?

Output: What are the signs and symptoms of KBG syndrome? KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary. Characteristic features of the head and face may include a wide, short skull (brachycephaly); triangular face shape; widely spaced eyes (hypertelorism); wide eyebrows that may connect (synophrys); prominent nasal bridge; a long space between the nose and upper lip; and a thin upper lip. In addition to macrodontia, affected people may have jagged or misaligned teeth and/or other abnormalities of the bones or sockets of the jaw. Skeletal abnormalities most often affect the limbs, spine, and/or ribs. Affected people often have delayed bone age. Other signs and symptoms that have been less commonly reported include seizures; syndactyly; a webbed, short neck; undescended testes (cryptorchidism); hearing loss; defects of the palate (roof of the mouth); strabismus; and congenital heart defects. The Human Phenotype Ontology provides the following list of signs and symptoms for KBG 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 form of the vertebral bodies 90% Abnormality of calvarial morphology 90% Abnormality of the femur 90% Abnormality of the ribs 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Delayed skeletal maturation 90% Macrodontia 90% Round face 90% Short stature 90% Telecanthus 90% EEG abnormality 50% Finger syndactyly 50% Hypertelorism 50% Low posterior hairline 50% Low-set, posteriorly rotated ears 50% Narrow mouth 50% Reduced number of teeth 50% Short neck 50% Single transverse palmar crease 50% Strabismus 50% Abnormality of dental enamel 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Facial asymmetry 7.5% Hearing impairment 7.5% Pointed chin 7.5% Postaxial hand polydactyly 7.5% Anteverted nares - Autosomal dominant inheritance - Cervical ribs - Clinodactyly - Intellectual disability - Long palpebral fissure - Long philtrum - Low anterior hairline - Macrotia - Microcephaly - Oligodontia - Radial deviation of finger - Rib fusion - Syndactyly - Thick eyebrow - Thoracic kyphosis - Triangular face - Underdeveloped nasal alae - Vertebral fusion - Widely-spaced maxillary central incisors - 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) Cockayne syndrome type III ?

Output: Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.  Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood. </s>


Input: What are the symptoms of Cockayne syndrome type III ?

Output: What are the signs and symptoms of Cockayne syndrome type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type III. 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 auditory evoked potentials - Abnormal CNS myelination - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the pinna - Abnormality of visual evoked potentials - Atherosclerosis - Atypical scarring of skin - Autosomal recessive inheritance - Cerebral calcification - Cutaneous photosensitivity - Dementia - Dermal atrophy - Flexion contracture - Gait disturbance - Glomerulosclerosis - Hearing impairment - Hypertension - Intellectual disability - Large hands - Long foot - Mandibular prognathia - Microcephaly - Normal pressure hydrocephalus - Optic atrophy - Prematurely aged appearance - Proteinuria - Retinal degeneration - Retinal pigment epithelial mottling - Severe short stature - Thymic hormone decreased - 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>