bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Geographic tongue? The lesions seen in geographic tongue resemble those of psoriasis. Most patients do not experience symptoms. It has been estimated that about 5% of individuals who have geographic tongue complain of sensitivity to hot or spicy foods when the their lesions are active. The Human Phenotype Ontology provides the following list of signs and symptoms for Geographic tongue. 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 - Furrowed tongue - 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 geographic tongue? Is it genetic? The exact cause of geographic tongue has not been identified. However, because the condition may be present in several members of the same family, genetics may increase a person's chances of developing the condition. A study by Guimares (2007) showed that a specific variant of a gene called IL-1B (interleukin-1 beta) is associated with an increased risk of developing geographic tongue and suggests a genetic basis for the development of the disease. Further research may result in a better understanding of the genetic influences involved in the development of geographic tongue.
What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto 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 eyelashes 90% Abnormality of the hip bone 90% Anteverted nares 90% Cleft palate 90% Cognitive impairment 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscular hypotonia 90% Open mouth 90% Proptosis 90% Short nose 90% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Epicanthus 50% Long philtrum 50% Synophrys 50% Webbed neck 50% Abnormality of female internal genitalia 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pinna 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Hypoplastic left heart 7.5% Intestinal malrotation 7.5% Microcephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Tented upper lip vermilion 7.5% Urogenital fistula 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 Bare lymphocyte syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Bronchiectasis - Bronchiolitis - Chronic otitis media - Chronic sinusitis - Ectopia lentis - Emphysema - Recurrent bronchitis - Skin ulcer - 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.
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.
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.
Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. Spondylothoracic dysostosis is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person and may include surgery for bone malformations and respiratory support.
What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a "crab-like" appearance to the rib cage. The shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood. Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion. Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two "E230X" mutations in the MESP2 gene. Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent.
What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment.
Left ventricular noncompaction (LVNC) is a rare heart condition. In LVNC the inside wall of the heart is spongy or grooved, instead of smooth. Signs and symptoms of LVNC vary, but may cause life-threatening abnormal heart rhythms and weakness of the heart muscle. Treatments, such as blood thinning medication and defibrillators, are available to control these heart symptoms. In rare cases, heart transplantation is needed.
Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosis (the premature closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete). Genoa syndrome also appears to be associated with other skeletal abnormalities, including those of the hands, and distinctive facial features. The underlying genetic cause of the condition is currently unknown. Some reports suggest that Genoa syndrome may be inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
What are the signs and symptoms of Genoa syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genoa syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of retinal pigmentation 90% Abnormality of the hip bone 90% Blepharophimosis 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Craniosynostosis 90% Delayed skeletal maturation 90% Epicanthus 90% Facial asymmetry 90% Holoprosencephaly 90% Hypotelorism 90% Microcephaly 90% Muscular hypotonia 90% Plagiocephaly 90% Short distal phalanx of finger 90% Short stature 90% Skeletal muscle atrophy 90% Strabismus 90% Upslanted palpebral fissure 90% Coronal craniosynostosis - Coxa valga - Hypoplastic vertebral bodies - Lambdoidal craniosynostosis - Semilobar holoprosencephaly - 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.
Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.
What are the signs and symptoms of cold urticaria? The signs and symptoms of cold urticaria and the severity of the condition vary. Affected people generally develop reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and lasts for 1-2 hours. Other signs and symptoms may include: Headache Anxiety Tiredness Fainting Heart palpitations Wheezing Joint pain Low blood pressure In very severe cases, exposure to cold could lead to loss of consciousness, shock or even death.
What causes cold urticaria? In most cases of cold urticaria, the underlying cause is poorly understood. Although the symptoms are triggered by exposure of the skin to the cold (most often when the temperature is lower than 39 degrees Fahrenheit), it is unclear why this exposure leads to such a significant reaction. Rarely, cold urticaria is associated with blood conditions or infectious disease such as cryoglobulinemia, chronic lymphocytic leukaemia, lymphosarcoma, chicken pox, viral hepatitis, and mononucleosis.
How is cold urticaria diagnosed? A diagnosis of cold urticaria is typically suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and determine if there are other associated conditions. This generally involves a cold simulation test in which a cold object (such as an ice cube) is applied against the skin of the forearm for 1-5 minutes. In people affected by cold urticaria, a distinct red and swollen rash will generally develop within minutes of exposure. A complete blood count and/or metabolic tests may also be performed to determine associated diseases.
How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. Additionally, affected people are often told to carry an epinephrine autoinjector due to the increased risk of anaphylaxis. Several other therapies have reportedly been used to treat cold urticaria with varying degrees of success. These include: Leukotriene antagonists Ciclosporin Systemic corticosteroids Dapsone Oral antibiotics Synthetic hormones Danazol
What are the signs and symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal dysplasia maxillary hypoplasia brachydactyly. 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 dental color 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the humerus 50% Camptodactyly of finger 50% Craniofacial hyperostosis 50% Reduced bone mineral density 50% Cerebral cortical atrophy 7.5% Recurrent fractures 7.5% Autosomal dominant inheritance - Flared metaphysis - Hypoplasia of the maxilla - Metaphyseal dysplasia - Multiple small vertebral fractures - Osteoporosis of vertebrae - Platyspondyly - Premature loss of teeth - Short 5th metacarpal - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus. 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 cortical bone morphology 90% Abnormality of the ribs 90% Craniofacial hyperostosis 90% Torus palatinus 90% Abnormal form of the vertebral bodies 50% Facial palsy 7.5% Mandibular prognathia 7.5% Nystagmus 7.5% Sensorineural hearing impairment 7.5% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Clavicular sclerosis - Dental malocclusion - Flat forehead - Growth abnormality - Metacarpal diaphyseal endosteal sclerosis - Metatarsal diaphyseal endosteal sclerosis - Thickened cortex of long bones - Vertebral body sclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.
What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. 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 testis 90% Polycystic ovaries 90% Ovotestis 5% Autosomal dominant inheritance - Azoospermia - Bifid scrotum - Decreased serum testosterone level - Hypoplasia of the uterus - Hypoplasia of the vagina - Micropenis - Perineal hypospadias - Scrotal hypoplasia - True hermaphroditism - 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.
Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints (between the pelvis and the spine) and spinal joints some years later. Signs and symptoms may include pain and swelling of the affected entheses and joints that may be misdiagnosed and treated as an injury. The underlying cause of juvenile spondyloarthropathy is currently unknown; however, the condition is strongly associated with HLA-B27. Some cases appear to occur sporadically while other affected people have a family history of arthritis, or other related condition. Treatment varies based on the type of juvenile spondyloarthropathy but may include various medications.