bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis 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 renal tubule 90% Abnormality of thrombocytes 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Abnormal renal physiology 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Aminoaciduria 50% Diabetes insipidus 50% Hepatomegaly 50% Ichthyosis 50% Malabsorption 50% Muscular hypotonia 50% Oligohydramnios 50% Recurrent fractures 50% Rocker bottom foot 50% Skeletal muscle atrophy 50% Talipes 50% Abnormality of the cardiac septa 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cirrhosis 7.5% Convex nasal ridge 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Nephrolithiasis 7.5% Pectus carinatum 7.5% Sensorineural hearing impairment 7.5% Upslanted palpebral fissure 7.5% Abnormal bleeding 5% Lissencephaly 5% Nephrogenic diabetes insipidus 5% Atria septal defect - Autosomal recessive inheritance - Cholestatic liver disease - Conjugated hyperbilirubinemia - Death in infancy - Dehydration - Elevated hepatic transaminases - Failure to thrive - Giant cell hepatitis - Hip dysplasia - Jaundice - Low-set ears - Metabolic acidosis - Microcephaly - Nephrocalcinosis - Nephropathy - Renal tubular acidosis - Right ventricular hypertrophy - Sloping forehead - Talipes calcaneovalgus - Ventricular septal 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.
What are the signs and symptoms of Zlotogora syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Zlotogora 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 philtrum - Anodontia - Anteverted ears - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cutaneous finger syndactyly - Cutaneous syndactyly of toes - Hypodontia - Hypohidrosis - Microdontia - Nail dysplasia - Palmoplantar hyperkeratosis - Progressive hypotrichosis - Sparse eyebrow - Sparse eyelashes - 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.
Palmoplantar keratoderma (PPK) is a group of conditions characterized by thickening of the palms and soles of the feet. PPK can also be an associated feature of different syndromes. In rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. PPK can either be inherited or acquired. Acquired palmoplantar keratodermas may arise as a result of infections, internal disease or cancer, inflammatory skin conditions, or medications. The hereditary palmoplantar keratodermas are caused by a gene abnormality that results in abnormal skin protein (keratin). They can be inherited in an autosomal dominant or autosomal recessive patterns.
How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. Treatment may include simple measures such as saltwater soaks, emollients, and paring. More aggressive treatment includes topical keratolytics, topical retinoids, systemic retinoids (acitretin), topical vitamin D ointment (calcipotriol), or surgery to removed the skin, following by skin grafting.
What are the signs and symptoms of XK aprosencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for XK aprosencephaly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Microcephaly 90% Narrow mouth 90% Abnormality of the gastrointestinal tract 50% Abnormality of the genital system 50% Abnormality of the pharynx 50% Absent nares 50% Aplasia/Hypoplasia of the radius 50% Atria septal defect 7.5% Hypotelorism 7.5% Polyhydramnios 7.5% Ventricular septal defect 7.5% Anencephaly - Aprosencephaly - Autosomal recessive inheritance - Oligodactyly (hands) - 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.
Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin.
Parkes Weber syndrome (PWS) is a rare congenital condition causing an individual to have a large number of abnormal blood vessels. The main characteristics of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb; and multiple arteriovenous fistulas (abnormal connections between arteries and veins) which can potentially lead to heart failure. Individuals may also have pain in the affected limb and a difference in size between the limbs. There has been evidence that some cases of PWS are caused by mutations in the RASA1 gene and are inherited in an autosomal dominant manner. Management typically depends on the presence and severity of symptoms and may include embolization or surgery in the affected limb.
What are the signs and symptoms of Parkes Weber syndrome? Parkes Weber syndrome is characterized by birthmarks caused by capillary malformations on the skin; hypertrophy (excessive growth) of the bone and soft tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb); and multiple arteriovenous fistulas (abnormal connections between arteries and veins). The Human Phenotype Ontology provides the following list of signs and symptoms for Parkes Weber syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of limb bone morphology 90% Lower limb asymmetry 90% Peripheral arteriovenous fistula 90% Skeletal muscle hypertrophy 90% Telangiectasia of the skin 90% Venous insufficiency 50% Congestive heart failure 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Migraine 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.
What are the signs and symptoms of Femur fibula ulna syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Femur fibula ulna 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 femur 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Finger syndactyly 90% Micromelia 90% Split hand 90% Abnormality of the elbow 50% Short stature 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. 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) Taurodontia 5% Amelogenesis imperfecta - Autosomal dominant inheritance - Generalized microdontia - 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.
Familial pemphigus vulgaris refers to a cluster of pemphigus vulgaris within a family. Pemphigus vulgaris is a rare autoimmune condition that is characterized by blisters and sores on the skin and mucus membranes. Although the exact cause of familial pemphigus vulgaris is unknown, autoimmune conditions generally occur when the body's immune system mistakenly attacks healthy tissue (in this case, the skin and mucus membranes). Most cases of pemphigus vulgaris occur sporadically in people with no family history of the condition; however, rare reports exist of "familial" cases which affect more than one member of a single family. In these cases, the underlying genetic cause is unknown, although an association between pemphigus vulgaris and certain HLA antigens has been identified. Treatment generally includes medications and other strategies to decrease blister formation, prevent infections and promote healing.
What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. 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) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - 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.
Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.
How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended:     -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises.     -A low-fat, low-protein, high-carbohydrate diet may be advised.     -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy.     -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis.
What are the signs and symptoms of Mandibuloacral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral 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) Abnormality of the clavicle 90% Abnormality of the fontanelles or cranial sutures 90% Arthralgia 90% Convex nasal ridge 90% Hypopigmented skin patches 90% Limitation of joint mobility 90% Lipoatrophy 90% Prematurely aged appearance 90% Short stature 90% Skeletal dysplasia 90% Abnormality of the eyebrow 50% Abnormality of the nail 50% Abnormality of the teeth 50% Alopecia 50% Cataract 50% Chondrocalcinosis 50% Flexion contracture 50% Hearing impairment 50% Lack of skin elasticity 50% Muscle weakness 50% Muscular hypotonia 50% Myopathy 50% Narrow mouth 50% Osteolysis 50% Short nose 50% Thin skin 50% Abnormality of lipid metabolism 7.5% Insulin resistance 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.