bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 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 Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility 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 spermatogenesis - Autosomal recessive inheritance - Bilateral sensorineural hearing impairment - Male infertility - Reduced sperm motility - 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 Ehlers-Danlos syndrome, periodontitis type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis 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) Abnormality of skin pigmentation 90% Atypical scarring of skin 90% Gingival overgrowth 90% Short stature 90% Hyperextensible skin 50% Hyperkeratosis 50% Joint hypermobility 50% Periodontitis 50% Premature loss of primary teeth 7.5% Autosomal dominant inheritance - Blue sclerae - Bruising susceptibility - Joint laxity - Palmoplantar cutis laxa - Poor wound healing - Premature loss of teeth - Thin skin - 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 Ichthyosis and male hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis and male hypogonadism. 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 - Anosmia - Congenital ichthyosiform erythroderma - Gonadotropin deficiency - Hyperchromic macrocytic anemia - Hypogonadotrophic hypogonadism - Intellectual disability - Male hypogonadism - Rod-cone dystrophy - Seizures - 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 signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy . 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 motor neuron morphology - Abnormality of saccadic eye movements - Abnormality of thalamus morphology - Azoospermia - Head tremor - Hypergonadotropic hypogonadism - Hyposmia - Intention tremor - Leukoencephalopathy - Peripheral neuropathy - Torticollis - 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 Osteodysplasty precocious of Danks Mayne and Kozlowski? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasty precocious of Danks Mayne and Kozlowski. 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 long bone morphology - Abnormality of pelvic girdle bone morphology - Autosomal recessive inheritance - Growth delay - Recurrent respiratory infections - Short finger - Short toe - 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.
Cheilitis glandularis is a rare inflammatory disorder of the lip. It is mainly characterized by swelling of the lip with hyperplasia of the salivary glands; secretion of a clear, thick mucus; and variable inflammation. Enlargement and chronic exposure of the mucous membrane on the lower lip becomes affected by the environment, leading to erosion, ulceration, crusting, and, occasionally, infection. Cheilitis glandularis is more common in adult males, although cases have been described in women and children. In Caucasians, it is associated with a relatively high incidence of squamous cell carcinoma of the lip. Although there may be a genetic susceptibility, no definitive cause has been established. Treatment may include surgical excision by vermilionectomy (sometimes called a lip shave), but treatment varies for each individual.
What are the signs and symptoms of Cheilitis glandularis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cheilitis glandularis. 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 immune system physiology 90% Abnormality of the salivary glands 90% Thick lower lip vermilion 90% Autosomal dominant inheritance - Cheilitis - Squamous cell carcinoma - 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 cheilitis glandularis be treated? The approach to treatment for cheilitis glandularis is typically based on information obtained from histopathologic analysis (microscopic examination of the tissue); the identification of the likely causes responsible for the condition; and attempts to alleviate or eradicate those causes. Given the relatively small number of reported cases of the condition, there is not sufficient or reliable data that exists with regard to medical approaches. Therefore, treatment generally varies accordingly for each individual. For cases attributable to angioedema (swelling similar to hives beneath the skin), an antihistamine may help with temporary reduction of acute, nonpurulent (lacking pus) swelling. Suppurative cases (those with pus present) typically require management with appropriate antimicrobial treatment as determined by culture and sensitivity testing. Concomitant corticosteroid treatment may increase the effectiveness of antimicrobial therapy in cases with nodularity; however, the potential adverse effects of long-term corticosteroid treatment, and because it can promote local fibrosis and scarring, limit its potential use either as an adjunct to antibiotic treatment or as a single therapeutic modality. Topical 5-fluorouracil is useful for treatment of dysplastic actinic cheilitis and to curtail its progression. In conjunction with clinical supervision, it can be prescribed as an alternative to vermilionectomy (sometimes called a lip shave) or as a preventative measure following vermilionectomy. In cheilitis glandularis cases in which a history of chronic sun exposure exists (especially if the individual is fair skinned or the everted lip surface is chronically eroded, ulcerated, or crusted), biopsy is strongly recommended to rule out actinic cheilitis or carcinoma. Surgical excision is typically not necessary when the diagnosis is actinic cheilitis with atypia or only mild dysplasia; however, individuals require ongoing clinical vigilance at regular intervals and instruction in measures to protect the lips from further sun damage. Treatment options for cases of actinic cheilitis with moderate-to-severe dysplasia include surgical stripping or vermilionectomy, cryosurgery or laser surgery, or topical chemotherapy with 5-fluorouracil. Given the potential for recurrence and the risk for development of carcinoma, sun protective measures and regular clinical monitoring should be instituted. In cases in which eversion, extensive fibrosis, and induration have resulted in lip incompetence with functional and cosmetic compromise, chronic pain, and surface disruption, surgical cheiloplasty (lip reduction) may be indicated to restore normal lip architecture and function. Cheiloplasty is also a prophylactic measure for reducing the risk of actinic injury.
What are the signs and symptoms of Kallmann syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Seizures 5% Anosmia - Autosomal recessive inheritance - Cleft palate - Cleft upper lip - Cryptorchidism - Hypogonadotrophic hypogonadism - Hypotelorism - Micropenis - Pectus excavatum - Pes planus - Primary amenorrhea - Unilateral renal agenesis - 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.
Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This form of mercury is generally only harmful when small droplets become airborne and are inhaled. If this occurs, signs and symptoms of poisoning may include metallic taste, vomiting, difficulty breathing, coughing, and/or swollen, bleeding gums. In severe cases, long-term brain damage, permanent lung damage and even death may occur. Inorganic mercury is found in batteries, chemistry labs, and some disinfectants. This form of mercury is harmful when swallowed. Signs and symptoms of inorganic mercury poisoning vary based on the amount consumed, but may include burning in the stomach and throat; vomiting; and/or bloody diarrhea. Inorganic mercury can also affect the kidneys and brain if it enters the blood stream. Organic mercury can be found in fish. Some organisms convert fumes from burning coal into organic mercury. This form of mercury is harmful if inhaled, eaten, or placed on the skin for long periods of time. Long-term exposure to organic mercury may result in skin numbness or pain; tremor; inability to walk well; blindness; double vision; memory problems; seizures; or even death. Treatment is generally supportive and based on the signs and symptoms present in each person. Medications called chelators, which remove mercury and heavy metals from the body, are generally prescribed.
Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complete loss of scalp hair (alopecia totalis) or total loss of all body hair (alopecia universalis). Although the exact cause of AA is unknown, roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of the condition. There is no cure or approved therapy for AA; however, some people find that medications approved for other purposes can help regrow hair.
What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. 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 areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - 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 Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 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) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 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.
Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue. Treatment is symptomatic and supportive.