Input: What are the symptoms of Rhizomelic dysplasia Patterson Lowry type ?

Output: What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry 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 form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Depressed nasal ridge 90% Deviation of finger 90% Epicanthus 90% Genu valgum 90% Hyperlordosis 90% Large face 90% Limb undergrowth 90% Malar flattening 90% Mandibular prognathia 90% Short nose 90% Coxa vara - Deformed humeral heads - Platyspondyly - Rhizomelia - Short humerus - 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) Congenital muscular dystrophy ?

Output: Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes. Most forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. </s>


Input: What is (are) Chandler's syndrome ?

Output: Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown. </s>


Input: What causes Chandler's syndrome ?

Output: What causes Chandler's syndrome? The underlying cause of Chandler's syndrome is unknown. Some researchers suspect that inflammation or chronic viral infection may play a role in the development of this condition.  Chandler's syndrome develops when the endothelium, the single layer of cells lining the inside of the surface of the cornea, fails to pump the aqueous humor from the cornea. This allows fluid to accumulate in the cornea (corneal edema), leading to blurred vision. </s>


Input: Is Chandler's syndrome inherited ?

Output: Is Chandler's syndrome inherited? While the cause of Chandler's syndrome is unknown, at this time there is no evidence that it is inherited (hereditary). </s>


Input: What are the treatments for Chandler's syndrome ?

Output: How might Chandler's syndrome be treated? While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery. Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more efficiently and/or decreasing the amount of fluid made by the eye. Drugs used to treat glaucoma are classified according to their active ingredient. These include prostaglandin analogs, beta blockers, alpha agonists, and carbonic anhydrase inhibitors. Combination drugs may be necessary for some patients. If these medications do not successfully treat the glaucoma, surgery may be indicated. Trabeculectomy may be used to treat glaucoma. In some cases, multiple procedures may be necessary. The corneal swelling associated with Chandler's syndrome may be treated through a cornea transplant. Further investigation is needed to determine the best way to manage this condition. </s>


Input: What are the symptoms of Hypomagnesemia 2, renal ?

Output: What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. 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 - Hypomagnesemia - Renal magnesium wasting - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Mucopolysaccharidosis type I ?

Output: Mucopolysaccharidosis I (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations lead to reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, large sugar molecules called glycosaminoglycans (GAGs) accumulate within cells called lysosomes. This causes the lysosomes to increase in size, causing many different organs and tissues of the body to become enlarged. This leads to the medical problems seen in the condition.  MPS I was once divided into three separate syndromes: Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome, listed from most to least severe. Because no biochemical differences have been identified and the clinical findings overlap, the condition is now divided into two subtypes, severe MPS I and attenuated MPS I. People with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition. </s>


Input: What are the symptoms of Mucopolysaccharidosis type I ?

Output: What are the signs and symptoms of Mucopolysaccharidosis type I? The signs and symptoms of MPS I are not present at birth, but they begin to appear during childhood. People with severe MPS I develop the features of this condition earlier than those with attenuated MPS I. The following list includes the most common signs and symptoms of MPS I. Enlarged head, lips, cheeks, tongue, and nose Enlarged vocal cords, resulting in a deep voice Frequent upper respiratory infections Sleep apnea Hydrocephalus Hepatosplenomegaly (enlarged liver and spleen) Umbilical hernia Inguinal hernia Hearing loss Recurrent ear infections  Corneal clouding Carpal tunnel syndrome Narrowing of the spinal canal (spinal stenosis) Heart valve abnormalities, which can lead to heart failure Short stature Joint deformities (contractures) Dysostosis multiplex (generalized thickening of most long bones, particularly the ribs) The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis 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) Abnormal form of the vertebral bodies 90% Abnormality of epiphysis morphology 90% Abnormality of the heart valves 90% Abnormality of the metaphyses 90% Abnormality of the tonsils 90% Abnormality of the voice 90% Coarse facial features 90% Hepatomegaly 90% Hernia 90% Hernia of the abdominal wall 90% Hypertrichosis 90% Limitation of joint mobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Otitis media 90% Scoliosis 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Abnormal nasal morphology 50% Abnormal pyramidal signs 50% Abnormality of the hip bone 50% Abnormality of the nasal alae 50% Apnea 50% Arthralgia 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% Depressed nasal bridge 50% Developmental regression 50% Dolichocephaly 50% Enlarged thorax 50% Full cheeks 50% Gingival overgrowth 50% Glaucoma 50% Low anterior hairline 50% Macrocephaly 50% Malabsorption 50% Microdontia 50% Paresthesia 50% Recurrent respiratory infections 50% Retinopathy 50% Sensorineural hearing impairment 50% Spinal canal stenosis 50% Thick lower lip vermilion 50% Abnormal tendon morphology 7.5% Abnormality of the aortic valve 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hemiplegia/hemiparesis 7.5% Hydrocephalus 7.5% Hypertrophic cardiomyopathy 7.5% Joint dislocation 7.5% Optic atrophy 7.5% Visual impairment 7.5% Aortic regurgitation - Autosomal recessive inheritance - Corneal opacity - Dysostosis multiplex - Hirsutism - Joint stiffness - Kyphosis - Mitral regurgitation - Obstructive sleep apnea - Pulmonary hypertension - Thick vermilion border - Tracheal stenosis - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Mucopolysaccharidosis type I ?

Output: What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. </s>


Input: Is Mucopolysaccharidosis type I inherited ?

Output: How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern. </s>


Input: What are the treatments for Mucopolysaccharidosis type I ?

Output: What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, this treatment is not expected to treat problems with mental development because laronidase cannot cross the blood-brain barrier. A bone marrow transplant is another treatment option that provides the person with MPS I with cells that can produce the IDUA enyzme. A bone marrow transplant can stop the progression of neurological problems. </s>


Input: What is (are) Multifocal choroiditis ?

Output: Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. </s>


Input: What are the symptoms of Multifocal choroiditis ?

Output: What are the signs and symptoms of multifocal choroiditis? Multifocal choroiditis (MFC) generally causes blurry vision with or without sensitivity to light. Other common symptoms include blind spots, floaters, eye discomfort and perceived flashes of light. Clinical examination by an ophthalmologist reveals inflammation in the front, middle and/or back layers of the eye with multiple scattered yellow/gray-white spots in the choroid and retina. A subset of people with this condition also develop choroidal neovascular membranes (CNVMs), new blood vessels that can cause more severe vision loss. </s>


Input: What causes Multifocal choroiditis ?

Output: What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area. </s>


Input: How to diagnose Multifocal choroiditis ?

Output: How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC. </s>


Input: What are the treatments for Multifocal choroiditis ?

Output: How might multifocal choroiditis be treated? Multifocal choroiditis (MFC) is generally treated with steroid medication that can be taken orally or injected into the affected eye. These treatments may be successful in managing symptoms, though there is no permanent cure for the disease and symptoms may return. If a person no longer responds to steroid treatment, drugs that suppress the immune system, such as cyclosporine, may be recommended. People with more severe vision loss may also benefit from laser therapy. Frequent monitoring by an ophthalmologist is recommended to determine how well treatment is working. </s>


Input: What are the symptoms of Charcot-Marie-Tooth disease type 1B ?

Output: What are the signs and symptoms of Charcot-Marie-Tooth disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1B. 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) Kyphoscoliosis 33% Peripheral demyelination 33% Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Myelin outfoldings - Onion bulb formation - Pes cavus - Slow progression - Steppage gait - Tonic pupil - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of COASY Protein-Associated Neurodegeneration ?

Output: What are the signs and symptoms of COASY Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for COASY Protein-Associated Neurodegeneration . 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) Pes cavus 5% Autosomal recessive inheritance - Bradykinesia - Developmental regression - Distal amyotrophy - Dysarthria - Hyporeflexia - Mental deterioration - Motor axonal neuropathy - Neurodegeneration - Obsessive-compulsive behavior - Oromandibular dystonia - Progressive - Rigidity - Spastic paraparesis - Spastic tetraplegia - Toe walking - 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) Renal tubular acidosis with deafness ?

Output: Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition. </s>


Input: What are the symptoms of Renal tubular acidosis with deafness ?

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


Input: What are the symptoms of Ring chromosome 10 ?

Output: What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. 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 antihelix 90% Abnormality of the nipple 90% Abnormality of the nose 90% Aganglionic megacolon 90% Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Decreased body weight 90% Frontal bossing 90% Hypertelorism 90% Hypocalcemia 90% Intrauterine growth retardation 90% Large earlobe 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Pectus excavatum 90% Renal hypoplasia/aplasia 90% Sandal gap 90% Seizures 90% Short neck 90% Tapered finger 90% Thin vermilion border 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Crandall syndrome ?

Output: What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Pili torti 90% Sensorineural hearing impairment 90% Abnormality of the eye 50% Abnormality of the testis 50% Fine hair 50% Hypoplasia of penis 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) Proximal symphalangism ?

Output: Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 gene. </s>


Input: What are the symptoms of Proximal symphalangism ?

Output: What are the signs and symptoms of Proximal symphalangism? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal symphalangism. 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) Camptodactyly of finger 90% Proximal symphalangism (hands) 90% Symphalangism affecting the phalanges of the hand 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Carpal synostosis 75% Abnormality of the metacarpal bones 50% Brachydactyly syndrome 50% Conductive hearing impairment 50% Elbow dislocation 50% Humeroradial synostosis 50% Sensorineural hearing impairment 50% Stapes ankylosis 50% Aplasia/Hypoplasia of the middle phalanges of the hand 7.5% Aplasia/Hypoplasia of the middle phalanges of the toes 7.5% Clinodactyly of the 5th finger 7.5% Finger syndactyly 7.5% Strabismus 7.5% Distal symphalangism (hands) 5% Metacarpophalangeal synostosis 1% Abnormal finger flexion creases - Autosomal dominant inheritance - Pes planus - Proximal/middle symphalangism of 5th finger - Short 5th metacarpal - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: How to diagnose Proximal symphalangism ?

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


Input: What is (are) Progeria ?

Output: Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood. Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13-14; death is usually due to heart attack or stroke. Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent. Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made. </s>


Input: What are the symptoms of Progeria ?

Output: What are the signs and symptoms of Progeria? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of the fingernails 90% Abnormality of the genital system 90% Alopecia 90% Delayed eruption of teeth 90% Hypoplastic toenails 90% Narrow face 90% Prematurely aged appearance 90% Proptosis 90% Reduced number of teeth 90% Short distal phalanx of finger 90% Short stature 90% Thin skin 90% Weight loss 90% Abnormality of skin pigmentation 50% Abnormality of the clavicle 50% Abnormality of the fontanelles or cranial sutures 50% Abnormality of the hip bone 50% Abnormality of the voice 50% Acrocyanosis 50% Convex nasal ridge 50% Coronary artery disease 50% External ear malformation 50% Gait disturbance 50% Lack of skin elasticity 50% Osteolysis 50% Reduced bone mineral density 50% Thin vermilion border 50% Arthralgia 7.5% Nephrosclerosis 7.5% Skeletal dysplasia 7.5% Absence of subcutaneous fat - Angina pectoris - Autosomal dominant inheritance - Congestive heart failure - Generalized osteoporosis with pathologic fractures - Growth delay - Hypoplasia of midface - Malar flattening - Myocardial infarction - Precocious atherosclerosis - Premature coronary artery disease - 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 Progeria ?

Output: What genes are related to Hutchinson-Gilford progeria syndrome? Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome. </s>


Input: What are the treatments for Progeria ?

Output: How might progeria be treated? Management for progeria generally focuses on the signs and symptoms of the condition and may include the following: Exercise, diet modification, and medication when the lipid profile becomes abnormal Frequent small meals to maximize caloric intake Oral hydration Use of shoe pads for foot discomfort due to lack of body fat Use of sunscreen on all exposed areas of skin Nitroglycerin for angina Routine anticongestive therapy if congestive heart failure is present Statins for their putative effect on farnesylation inhibition Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur Routine physical and occupational therapy to help maintain range of motion in large and small joints Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children. A free, full-text version of this study is available on PubMed and can be viewed by clicking here. </s>


Input: What is (are) Lupus nephritis ?

Output: Lupus nephritis is a kidney disorder that is a complication of systemic lupus erythematous (SLE), commonly known as lupus. The symptoms of lupus nephritis include blood in the urine, a foamy appearance to the urine, high blood pressure, and swelling in any part of the body. This condition typically occurs in people aged 20 to 40 years. Treatment may involve medications to suppress the immune system, dialysis, or a kidney transplant.  Visit our Web page on lupus for more information and resources. </s>


Input: What are the symptoms of Hypothalamic hamartomas ?

Output: What are the signs and symptoms of Hypothalamic hamartomas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypothalamic hamartomas. 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) Death in infancy 50% Abnormality of cardiovascular system morphology - Anterior hypopituitarism - Autosomal recessive inheritance - Cleft palate - Depressed nasal bridge - Glioma - Hip dislocation - Hydrocephalus - Hypothalamic hamartoma - Macrocephaly - Median cleft lip - Microglossia - Micromelia - Micropenis - Occipital encephalocele - Postaxial hand polydactyly - Pulmonary hypoplasia - Renal dysplasia - Short nose - Short ribs - Skeletal 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 are the symptoms of Glutamine deficiency, congenital ?

Output: What are the signs and symptoms of Glutamine deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamine deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in infancy 7.5% Flexion contracture 5% Micromelia 5% Apnea - Autosomal recessive inheritance - Bradycardia - Brain atrophy - CNS hypomyelination - Depressed nasal bridge - Encephalopathy - Hyperammonemia - Hyperreflexia - Hypoplasia of the corpus callosum - Low-set ears - Muscular hypotonia - Periventricular cysts - Respiratory insufficiency - Seizures - Severe global developmental delay - Skin rash - Subependymal cysts - Ventriculomegaly - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Leukonychia totalis ?

Output: Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. The inherited forms can be caused by mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails. In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition. </s>


Input: What are the symptoms of Leukonychia totalis ?

Output: What are the signs and symptoms of Leukonychia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukonychia totalis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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 Leukonychia totalis ?

Output: What causes leukonychia totalis? Leukonychia totalis (also called total leukonychia) is thought to be due to abnormal keratinization (conversion into keratin) of the nail plate. Keratin is a protein that is a major component of the epidermis (outer layer of skin), hair, nails, and horny tissues. The condition is usually inherited, following either an autosomal dominant or autosomal recessive inheritance pattern. These inherited forms can be caused by mutations in the PLCD1 gene. In some cases, leukonychia occurs in association with other underlying abnormalities or syndromes. Conditions that have been reported include palmoplantar keratoderma; certain types of cysts; severe keratosis pilaris; pili torti; hypotrichosis (lack of hair growth); onychorrhexis (brittle nails); koilonychia (spoon-shaped nails); Bart-Pumphrey syndrome; and Buschkell-Gorlin syndrome, when it occurs with sebaceous cysts and kidney stones. It has also reportedly been associated with typhoid fever, leprosy, cirrhosis, nail biting, trichinosis, and cytotoxic drugs (drugs that are toxic to cells). In a few cases, the cause of leukonychia is unknown (idiopathic). </s>


Input: Is Leukonychia totalis inherited ?

Output: Is leukonychia totalis inherited? Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. In some cases, the condition is idiopathic (of unknown cause). Autosomal dominant inheritance means that having a change (mutation) in only one copy of the disease-causing gene is enough to cause signs or symptoms. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Autsomal recessive inheritance means that a person must have mutations in both copies of the disease-causing gene to have the condition. Usually, one mutated copy is inherited from each parent, who are each referred to as a carrier.  Carriers of an autosomal recessive condition typically do not have any signs or symptoms. </s>


Input: What are the treatments for Leukonychia totalis ?

Output: How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition. </s>


Input: What are the symptoms of Tremors, nystagmus and duodenal ulcers ?

Output: What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. 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 gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Chorea-acanthocytosis ?

Output: Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. </s>


Input: What are the symptoms of Chorea-acanthocytosis ?

Output: What are the signs and symptoms of Chorea-acanthocytosis? Chorea-acanthocytosis affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). Another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures. Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may also have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties, and can lead to an inability to speak. Behavioral changes are also a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself. The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis. The Human Phenotype Ontology provides the following list of signs and symptoms for Chorea-acanthocytosis. 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 erythrocytes 90% Incoordination 90% Muscular hypotonia 90% Neurological speech impairment 90% Pallor 90% Peripheral neuropathy 90% Abnormality of coagulation 50% Abnormality of the oral cavity 50% Abnormality of urine homeostasis 50% Attention deficit hyperactivity disorder 50% Cerebral cortical atrophy 50% Chorea 50% Developmental regression 50% EMG abnormality 50% Gait disturbance 50% Memory impairment 50% Myopathy 50% Seizures 50% Skeletal muscle atrophy 50% Tremor 50% Ventriculomegaly 50% Abdominal pain 7.5% Abnormality of the thyroid gland 7.5% Acute hepatic failure 7.5% Ascites 7.5% Cataract 7.5% Dementia 7.5% Elevated hepatic transaminases 7.5% Hepatomegaly 7.5% Hypertrophic cardiomyopathy 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Nausea and vomiting 7.5% Nystagmus 7.5% Recurrent respiratory infections 7.5% Self-injurious behavior 7.5% Short stature 7.5% Sleep disturbance 7.5% Splenomegaly 7.5% Vasculitis 7.5% Weight loss 7.5% Acanthocytosis - Aggressive behavior - Anxiety - Areflexia - Autosomal recessive inheritance - Caudate atrophy - Disinhibition - Drooling - Dysarthria - Dysphagia - Dystonia - Elevated serum creatine phosphokinase - Hyporeflexia - Limb muscle weakness - Mood changes - Orofacial dyskinesia - Parkinsonism - Personality changes - Pes cavus - Progressive - Progressive choreoathetosis - Psychosis - Self-mutilation of tongue and lips due to involuntary movements - Sensory neuropathy - Tics - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: Is Chorea-acanthocytosis inherited ?

Output: How do people inherit chorea-acanthocytosis? Chorea-acanthocytosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </s>


Input: What are the treatments for Chorea-acanthocytosis ?

Output: How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year. </s>


Input: What are the symptoms of Acrokeratoelastoidosis of Costa ?

Output: What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. 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) Hyperkeratosis 90% Verrucae 90% Abnormality of the nail 50% Hyperhidrosis 50% Acrokeratosis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Deafness, dystonia, and cerebral hypomyelination ?

Output: What are the signs and symptoms of Deafness, dystonia, and cerebral hypomyelination ? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, dystonia, and cerebral hypomyelination . 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) Optic atrophy 5% Seizures 5% Abnormal facial shape - Abnormal pyramidal signs - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Dystonia - Failure to thrive - Intellectual disability - Microcephaly - Sensorineural hearing impairment - Strabismus - Tetraplegia - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia ?

Output: What are the signs and symptoms of Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dandy-Walker malformation 90% Multicystic kidney dysplasia 90% Abnormality of the liver 50% Abnormality of the pancreas 50% Aplasia/Hypoplasia of the lungs 50% Intestinal malrotation 50% Oligohydramnios 50% Polyhydramnios 50% Bile duct proliferation - 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) Noonan syndrome 6 ?

Output: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. </s>


Input: What are the symptoms of Noonan syndrome 6 ?

Output: What are the signs and symptoms of Noonan syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asymmetry of the thorax 100% Cryptorchidism 100% Curly hair 100% Generalized hypotonia 100% Hyperkeratosis 100% Hypertelorism 100% Low-set ears 100% Short stature 100% Webbed neck 100% Hypertrophic cardiomyopathy 3 of 4 Macrocephaly 3 of 4 Pulmonic stenosis 3 of 4 Intellectual disability, mild 2 of 4 Myopia 2 of 4 Delayed speech and language development 1 of 4 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 Noonan syndrome 6 ?

Output: How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site. </s>


Input: What are the symptoms of Distal myopathy with vocal cord weakness ?

Output: What are the signs and symptoms of Distal myopathy with vocal cord weakness? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal myopathy with vocal cord weakness. 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) Dementia 5% Distal sensory impairment 5% Abnormal lower motor neuron morphology - Abnormal upper motor neuron morphology - Abnormality of the nasopharynx - Adult onset - Amyotrophic lateral sclerosis - Aspiration - Autosomal dominant inheritance - Bowing of the vocal cords - Bulbar palsy - Bulbar signs - Decreased nerve conduction velocity - Distal muscle weakness - Dysarthria - Dysphagia - Elevated serum creatine phosphokinase - Hoarse voice - Hyperreflexia - Respiratory insufficiency due to muscle weakness - Rimmed vacuoles - Shoulder girdle muscle weakness - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Chromosome 1q41-q42 deletion syndrome ?

Output: Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features. Researchers have suggested the features are caused by disruption of several genes. This condition is inherited in an autosomal dominant manner; although most cases do not have a family history of this condition. </s>


Input: What are the symptoms of Chromosome 1q41-q42 deletion syndrome ?

Output: What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anteverted nares - Autosomal dominant inheritance - Cleft palate - Cleft upper lip - Coarse facial features - Congenital diaphragmatic hernia - Cryptorchidism - Deeply set eye - Depressed nasal bridge - Frontal bossing - Holoprosencephaly - Hypotelorism - Intellectual disability - Microcephaly - Microphthalmia - Microtia - Phenotypic variability - Preauricular skin tag - Seizures - Short stature - Talipes equinovarus - Upslanted palpebral fissure - Vertebral segmentation defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Primary hyperparathyroidism ?

Output: Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment. </s>


Input: What are the symptoms of Kuster Majewski Hammerstein syndrome ?

Output: What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein 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 hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced 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 are the symptoms of Aplasia cutis congenita of limbs recessive ?

Output: What are the signs and symptoms of Aplasia cutis congenita of limbs recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita of limbs recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly 7.5% Skin ulcer 7.5% Toe syndactyly 7.5% Aplasia cutis congenita - Autosomal recessive inheritance - Congenital absence of skin of limbs - 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) Esthesioneuroblastoma ?

Output: Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribiform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor. </s>


Input: What are the symptoms of Esthesioneuroblastoma ?

Output: What symptoms are associated with esthesioneuroblastoma? Symptoms of esthesioneuroblastoma may include one or more of the following: Nasal obstruction Loss of smell Chronic sinus infections (sinusitis) Nasal bleeding Sinus pain and headache  Visual changes </s>


Input: What causes Esthesioneuroblastoma ?

Output: What causes esthestioneuroblastoma? The cause of esthesioneuroblastoma is currently unknown. </s>


Input: How to diagnose Esthesioneuroblastoma ?

Output: How is esthesioneuroblastoma diagnosed? Diagnosis is typically obtained through clinical examination, biopsy, and MRI and CT scans. </s>


Input: What are the treatments for Esthesioneuroblastoma ?

Output: How is esthesioneuroblastoma usually treated? Various treatment regimens for esthesioneuroblastoma have been used through the years. Early treatment included using either surgery or radiation therapy, but, for the most part, these regimens resulted in high rates of recurrence. Subsequently, multimodality therapy with surgery and radiation therapy has been more frequently administered, and some institutions recommend trimodality therapy, with the addition of chemotherapy to surgery and radiation therapy. Most patients are initially treated with surgical removal if possible. Radiation therapy is most commonly administered after surgical removal of the tumor. The role of chemotherapy for esthesioneuroblastoma remains poorly defined. Many institutions incorporate chemotherapy into the treatment regimen, especially for stage C disease, whereas others have not noted any substantial clinical response to chemotherapy. </s>


Input: What are the symptoms of Rowley-Rosenberg syndrome ?

Output: What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg 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 musculature - Aminoaciduria - Atelectasis - Autosomal recessive inheritance - Cor pulmonale - Growth delay - Pulmonary hypertension - Recurrent pneumonia - Reduced subcutaneous adipose tissue - Right ventricular hypertrophy - 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 Renal tubular acidosis, distal, autosomal dominant ?

Output: What are the signs and symptoms of Renal tubular acidosis, distal, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular acidosis, distal, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypocalcemia - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - 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) Platelet storage pool deficiency ?

Output: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. </s>


Input: What are the symptoms of Platelet storage pool deficiency ?

Output: What are the signs and symptoms of Platelet storage pool deficiency? The signs and symptoms of platelet storage pool deficiency vary but may include: Frequent nosebleeds Abnormally heavy or prolonged menstruation Easy bruising Recurrent anemia Abnormal bleeding after surgery, dental work or childbirth The Human Phenotype Ontology provides the following list of signs and symptoms for Platelet storage pool deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal bleeding - Acute leukemia - Autosomal dominant inheritance - Decreased mean platelet volume - Myelodysplasia - Prolonged bleeding time - 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 Platelet storage pool deficiency ?

Output: What causes platelet storage pool deficiency? Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool deficiencies are due to reduced or absent granules or granule contents. Others occur if the platelets are unable to empty the contents of the platelet granules into the bloodstream.  Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several inherited conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Causes of acquired platelet storage pool deficiencies include: Systemic lupus erythematosus Cardiovascular bypass Hairy-cell leukemia </s>


Input: Is Platelet storage pool deficiency inherited ?

Output: Is platelet storage pool deficiency inherited? Platelet storage pool deficiency refers to a group of conditions that can be acquired (non-inherited) or inherited. Hereditary forms of the condition may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. In autosomal dominant conditions, one changed (mutated) copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene from the affected parent. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons. </s>


Input: How to diagnose Platelet storage pool deficiency ?

Output: How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregation studies Peripheral blood smear Flow cytometry (detects a reduction in certain types of granules in affected platelets) </s>


Input: What are the treatments for Platelet storage pool deficiency ?

Output: How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS). </s>


Input: What is (are) Hypoplastic right heart syndrome ?

Output: Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart. </s>


Input: What is (are) Goldenhar disease ?

Output: Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. Affected individuals commonly have a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the facial structure, heart, lungs, kidneys, and central nervous system. The underlying cause of the condition remains unknown. </s>


Input: What are the symptoms of Goldenhar disease ?

Output: What are the signs and symptoms of Goldenhar disease? The major signs and symptoms of Goldenhar disease are usually only seen on one side of the body. These major features include a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Affected individuals may have a variety of other signs and symptoms involving the ears, eyes, and spine as well as the face, heart, lungs, and central nervous system. The severity of these features can vary greatly among individuals with Goldenhar disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Goldenhar 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) Facial asymmetry 90% Hearing impairment 90% Preauricular skin tag 90% Abnormal form of the vertebral bodies 50% Abnormality of the inner ear 50% Abnormality of the middle ear 50% Atresia of the external auditory canal 50% Cleft palate 50% Epibulbar dermoid 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Non-midline cleft lip 50% Abnormal localization of kidney 7.5% Abnormality of the pharynx 7.5% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the lungs 7.5% Aplasia/Hypoplasia of the thumb 7.5% Autism 7.5% Cerebral cortical atrophy 7.5% Cleft eyelid 7.5% Cognitive impairment 7.5% Laryngomalacia 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Short stature 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Tracheomalacia 7.5% Ventricular septal defect 7.5% Ventriculomegaly 7.5% Vertebral segmentation defect 7.5% Visual impairment 7.5% Wide mouth 7.5% Agenesis of corpus callosum - Anophthalmia - Anotia - Arnold-Chiari malformation - Autosomal dominant inheritance - Blepharophimosis - Block vertebrae - Branchial anomaly - Cleft upper lip - Coarctation of aorta - Conductive hearing impairment - Ectopic kidney - Hemivertebrae - Hydrocephalus - Hypoplasia of facial musculature - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microphthalmia - Microtia - Multicystic kidney dysplasia - Occipital encephalocele - Patent ductus arteriosus - Pulmonary hypoplasia - Renal agenesis - Sensorineural hearing impairment - Strabismus - Unilateral external ear deformity - Upper eyelid coloboma - Ureteropelvic junction obstruction - Vertebral hypoplasia - Vesicoureteral reflux - 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) Methylcobalamin deficiency cbl G type ?

Output: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. </s>


Input: What are the symptoms of Methylcobalamin deficiency cbl G type ?

Output: What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G 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) Blindness 5% Nystagmus 5% Autosomal recessive inheritance - Cerebral atrophy - Decreased methionine synthase activity - Decreased methylcobalamin - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Infantile onset - Intellectual disability - Megaloblastic anemia - Muscular hypotonia - Poor coordination - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Pseudoangiomatous stromal hyperplasia ?

Output: Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for other non-cancerous or cancerous lesions. Tumorous PASH presents as a firm, painless breast mass or a dense region on a mammogram. </s>


Input: What are the treatments for Pseudoangiomatous stromal hyperplasia ?

Output: Is treatment available for pseudoangiomatous stromal hyperplasia (PASH)? Surgical removal of the PASH lesions has been performed in some individuals. A wide margin around the mass may be removed to prevent recurrence. Although PASH lesions often grow over time and may recur, they are neither associated with malignancy (cancer) nor considered to be premalignant (pre-cancerous). According to the medical text, CONN's Current Therapy 2007, approximately 7 percent of people experience a recurrence of PASH. </s>


Input: What is (are) Leukoencephalopathy with vanishing white matter ?

Output: Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe. </s>


Input: What are the symptoms of Leukoencephalopathy with vanishing white matter ?

Output: What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. 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) Juvenile onset 33% Macrocephaly 33% Blindness 7.5% Autosomal recessive inheritance - Cerebral hypomyelination - Cessation of head growth - CNS demyelination - Decreased serum progesterone - Delusions - Developmental regression - Dysarthria - Emotional lability - Lethargy - Leukoencephalopathy - Memory impairment - Muscular hypotonia - Optic atrophy - Personality changes - Premature ovarian failure - Primary gonadal insufficiency - Secondary amenorrhea - Seizures - Spasticity - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Leukoencephalopathy with vanishing white matter ?

Output: What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cells (protein synthesis). Proper regulation of protein synthesis ensures that the correct levels of protein are available for cells to cope with changing conditions and stress. Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition. Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by MRI and clinical features do not have an identifiable mutation, suggesting that additional genes may also be responsible for the condition. </s>


Input: Is Leukoencephalopathy with vanishing white matter inherited ?

Output: How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. </s>


Input: What are the treatments for Leukoencephalopathy with vanishing white matter ?

Output: How might leukoencephalopathy with vanishing white matter be treated? Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications for seizures. Infections and fevers should be prevented when possible through the use of vaccinations; low-dose maintenance antibiotics during winter months; antibiotics for minor infections; and antipyretics (fever-reducing medications) for fever. For children, wearing a helmet outside can help minimize the effects of head trauma. Contact sports, head trauma, and stressful situations (including high body temperature) should be avoided. More detailed information about the management of leukoencephalopathy with vanishing white matter is available on the GeneReviews Web site. </s>