Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Coloboma, cleft lip/palate and mental retardation syndrome ? 
 What are the signs and symptoms of Coloboma, cleft lip/palate and mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Coloboma, cleft lip/palate and mental retardation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Chorioretinal coloboma 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia affecting the eye 50% Cognitive impairment 50% Hematuria 50% Iris coloboma 50% Oral cleft 50% Cataract 7.5% Glaucoma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 7.5% Optic atrophy 7.5% Posterior embryotoxon 7.5% Ptosis 7.5% Retinal detachment 7.5% Strabismus 7.5% Visual impairment 7.5% Cleft palate 5% Cleft upper lip 5% Intellectual disability 5% Microphthalmia 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Kerion celsi ? 
 What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the skin - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Behcet's disease ? 
 Behcet's disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in arthritis (swollen, painful, stiff joints), skin problems, and inflammation of the digestive tract, brain, and spinal cord. Although it can happen at any age, symptoms generally begin when individuals are in their 20s or 30s. The disease is common in Japan, Turkey and Israel, and less common in the United States. The exact cause of Behcet's disease is still unknown.  Treatment is symptomatic and supportive. Experience is evolving with the use of interferon-alpha and with agents which inhibit tumor necrosis factor (TNF) in the treatment of Behets disease. Behcet's disease is a lifelong disorder that comes and goes. Spontaneous remission over time is common for individuals with Behets disease but permanent remission of symptoms has not been reported.
What causes Behcet's disease ? 
 What causes Behcet's disease? The exact cause of Behet's disease is unknown. Most symptoms of the disease are caused by inflammation of the blood vessels. Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an autoimmune reaction may cause the blood vessels to become inflamed, but they do not know what triggers this reaction. Under normal conditions, the immune system protects the body from diseases and infections by killing harmful "foreign" substances, such as germs, that enter the body. In an autoimmune reaction, the immune system mistakenly attacks and harms the body's own tissues. Behet's disease is not contagious; it is not spread from one person to another. Researchers think that two factors are important for a person to get Behet's disease. First, it is believed that abnormalities of the immune system make some people susceptible to the disease. Scientists think that this susceptibility may be inherited; that is, it may be due to one or more specific genes. Second, something in the environment, possibly a bacterium or virus, might trigger or activate the disease in susceptible people.
What are the treatments for Behcet's disease ? 
 How might Behcet's disease be treated? Although there is no cure for Behet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. The type of medicine and the length of treatment depend on the person's symptoms and their severity. It is likely that a combination of treatments will be needed to relieve specific symptoms. Patients should tell each of their doctors about all of the medicines they are taking so that the doctors can coordinate treatment. Topical medicine is applied directly on the sores to relieve pain and discomfort. For example, doctors prescribe rinses, gels, or ointments. Creams are used to treat skin and genital sores. The medicine usually contains corticosteroids (which reduce inflammation), other anti-inflammatory drugs, or an anesthetic, which relieves pain. Doctors also prescribe medicines taken by mouth to reduce inflammation throughout the body, suppress the overactive immune system, and relieve symptoms. Doctors may prescribe one or more of the medicines listed below to treat the various symptoms of Behet's disease. Corticosteroids Immunosuppressive drugs (Azathioprine, Chlorambucil or Cyclophosphamide, Cyclosporine, Colchicine, or a combination of these treatments) Methotrexate
What is (are) Primary hyperoxaluria type 2 ? 
 Primary hyperoxaluria type 2  is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.
What are the symptoms of Primary hyperoxaluria type 2 ? 
 What are the signs and symptoms of Primary hyperoxaluria type 2? Primary hyperoxaluria type 2 is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the kidney and urinary tract), nephrocalcinosis (deposition of calcium oxalate in the kidney tissue), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Presenting symptoms are typically those associated with the presence of kidney stones, including hematuria, renal colic (a type of abdominal pain caused by kidney stones), or obstruction of the urinary tract. The symptoms of primary hyperoxaluria type 2 are typically less severe than primary hyperoxaluria type 1 and may be limited to kidney stone formation. Symptom onset may occur in childhood or adolescence. End stage renal disease is rarely observed in childhood. The Human Phenotype Ontology provides the following list of signs and symptoms for Primary hyperoxaluria type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Renal insufficiency 5% Aminoaciduria - Autosomal recessive inheritance - Calcium oxalate nephrolithiasis - Hematuria - Hyperoxaluria - Nephrocalcinosis - 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.
What causes Primary hyperoxaluria type 2 ? 
 What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and is converted to a compound called oxalate instead of glycolate. Oxalate, in turn, combines with calcium to form calcium oxalate, which the body cannot readily eliminate. Deposits of calcium oxalate can lead to the characteristic features of primary hyperoxaluria type 2.
Is Primary hyperoxaluria type 2 inherited ? 
 How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 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.
What are the treatments for Primary hyperoxaluria type 2 ? 
 How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications. To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.
What is (are) Charcot-Marie-Tooth disease type 1E ? 
 Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Charcot-Marie-Tooth disease type 1E ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1E. 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) Areflexia - Autosomal dominant inheritance - Childhood onset - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Juvenile onset - Pes cavus - Sensorineural hearing impairment - Split hand - Steppage gait - Talipes calcaneovalgus - 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.
What is (are) Split hand/foot malformation X-linked ? 
 Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
What are the symptoms of Split hand/foot malformation X-linked ? 
 What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Finger syndactyly - Short metacarpal - Short phalanx of finger - Split foot - Split hand - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Dihydropyrimidinase deficiency ? 
 What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase 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 pyramidal signs 5% Abnormal facial shape - Anal atresia - Autosomal recessive inheritance - Delayed speech and language development - Extrapyramidal dyskinesia - Feeding difficulties in infancy - Growth delay - Intellectual disability - Lethargy - Metabolic acidosis - Morphological abnormality of the pyramidal tract - Phenotypic variability - Plagiocephaly - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Short phalanx of finger - Somnolence - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Cataract anterior polar dominant ? 
 What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar 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) Anterior polar cataract - 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.
What are the symptoms of Diffuse mesangial sclerosis ? 
 What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - 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.
What is (are) Leri Weill dyschondrosteosis ? 
 Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.