bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Miller-Dieker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller-Dieker 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) Intellectual disability 100% Motor delay 100% Anteverted nares 90% Cerebral cortical atrophy 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Posteriorly rotated ears 90% Seizures 90% Short nose 90% Abnormality of the cardiovascular system 50% Polyhydramnios 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Clinodactyly of the 5th finger 7.5% Incoordination 7.5% Nephropathy 7.5% Omphalocele 7.5% Sacral dimple 7.5% Lissencephaly 27/27 Short nose 26/26 Thick upper lip vermilion 25/25 Wide nasal bridge 24/25 Cavum septum pellucidum 17/22 Hypoplasia of the corpus callosum 17/23 Sacral dimple 14/19 Microcephaly 17/25 Deep palmar crease 14/21 Midline brain calcifications 13/24 Low-set ears 14/27 Clinodactyly of the 5th finger 10/24 Epicanthus 8/22 Intrauterine growth retardation 8/22 Polyhydramnios 6/20 Abnormality of cardiovascular system morphology 6/27 Joint contracture of the hand 6/27 Single transverse palmar crease 5/24 Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Camptodactyly - Cataract - Cleft palate - Contiguous gene syndrome - Cryptorchidism - Decreased fetal movement - Delayed eruption of teeth - Duodenal atresia - Failure to thrive - Heterotopia - Infantile muscular hypotonia - Infantile spasms - Inguinal hernia - Pachygyria - Pelvic kidney - Polydactyly - Progressive spastic paraplegia - Recurrent aspiration pneumonia - Upslanted palpebral fissure - 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 Immunodeficiency with hyper IgM type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM 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) Autosomal recessive inheritance - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Lymphadenopathy - Recurrent bacterial infections - Recurrent infection of the gastrointestinal tract - Recurrent respiratory infections - Recurrent upper and lower respiratory tract infections - 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.
Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Narrowing and enlarging of arteries can block or reduce blood flow to the brain, causing a stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in people age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. Treatment is based on the arteries affected and the progression and severity of the disease.
What are the signs and symptoms of Fibromuscular dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibromuscular 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) Aortic dissection - Arterial fibromuscular dysplasia - Autosomal dominant inheritance - Intermittent claudication - Myocardial infarction - Renovascular hypertension - Stroke - 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 fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. Approximately 28 percent of affected individuals have more than one artery with fibromuscular dysplasia. It is not known why some people develop this condition in more than one artery.
What are the signs and symptoms of Impairment of oral perception? The Human Phenotype Ontology provides the following list of signs and symptoms for Impairment of oral perception. 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 - Drooling - Incoordination - 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.
Unna-Thost palmoplantar keratoderma is a type of diffuse palmoplantar keratoderma that mostly affects the palms of the hands and soles of the feet. It usually begins in early childhood with redness of the palms and soles. The palms and soles gradually become thicker and develop a yellowish, waxy appearance. Increased sweating (hyperhidrosis) is quite common and there is a tendency to fungal and bacterial infections of the feet. This condition usually does not extend beyond the hands and feet. It may affect the knuckle pads and nails, but usually does not involve the thin skin on the top of the feet or hands. Unna-Thost palmoplantar keratoderma is inherited in an autosomal dominant fashion and caused by mutations in the KRT1 gene.
What are the signs and symptoms of Unna-Thost palmoplantar keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Unna-Thost palmoplantar keratoderma. 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 - Nonepidermolytic palmoplantar keratoderma - 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 Unna-Thost palmoplantar keratoderma be treated? The following treatments can help to soften the thickened skin and make it less noticeable:  Emollients  Keratolytics (such as salicylic acid in propylene glycol) Topical retinoids Topical vitamin D ointment (calcipotriol) Systemic retinoids (acitretin) Antifungal medication may help if the condition occurs along with a fungal infection.
What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. 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 - Gait imbalance - Slow progression - Vertigo - 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.
Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor growth of the baby while in the womb and multiple birth defects.  Trisomy 2 mosaicism may be encountered during pregnancy as a finding following chorionic villus sampling. In these situations the trisomic cells are most often confined to the placenta and the pregnancy results in a healthy infant. Further investigation is warranted however, because in a small percentage of cases this finding is associated with an increased risk for intrauterine growth restriction  and oligohydramnios. Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. Click here to visit GeneTests to search for a genetics professional near you.
What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe 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) Anterior creases of earlobe 90% Postaxial hand polydactyly 50% 1-2 toe complete cutaneous syndactyly - Autosomal dominant inheritance - Bifid distal phalanx of toe - Broad toe - Preaxial foot polydactyly - Preaxial hand polydactyly - 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.
Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations) in the DSPP gene and is inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.
Myelodysplastic syndromes (MDS) are a rare group of blood disorders characterized by abnormal development of blood cells within the bone marrow. Individuals with MDS have abnormally low blood cell levels (low blood counts). Signs and symptoms associated with MDS include dizziness, fatigue, weakness, shortness of breath, bruising and bleeding, frequent infections, and headaches. In some cases, MDS may progress to bone marrow failure or an acute leukemia. The exact cause of MDS is unknown. It sometimes runs in families, but no disease-causing gene has been identified. Treatment depends on the affected individual's age, general health, and type of MDS and may include red cell and/or platelet transfusions and antibiotics.
What are the signs and symptoms of Myelodysplastic syndromes? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelodysplastic syndromes. 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) Myelodysplasia - Somatic mutation - 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 myelodysplastic syndromes? It is known that the abnormal development of blood cells associated with myelodysplastic syndromes (MDS) develops as the result of a series of somatic genetic changes - mutations that are not inherited that arise after conception - in cells that later become blood cells. These changes alter normal cell growth and differentiation, resulting in the accumulation of abnormal, immature cells in the bone marrow, thus leading to the signs and symptoms of MDS. Some recurring chromosome abnormalities and translocations have been identified and can affect treatment planning and prognosis. Many times the underlying cause of MDS is unknown (idiopathic MDS). Sometimes, MDS can develop after chemotherapy and radiation treatment for cancer or autoimmune diseases (secondary MDS). There are also some possible risk factors for developing the condition. Having a risk factor does not mean that an individual will get MDS; not having risk factors doesnt mean that an individual will not get MDS. Possible risk factors for MDS may include past treatment with chemotherapy or radiation therapy; exposure to some chemicals (pesticides and benzene); exposure to heavy metals (such as mercury or lead); cigarette smoking; viral infections; being over 60 years of age; and being male or white. The majority of individuals developing MDS have no obvious connection with environmental hazards. MDS also sometimes runs in families, which suggests a potential genetic link with the disease; however, no disease causing gene has been identified.
What are the signs and symptoms of 20p12.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 20p12.3 microdeletion 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) Cognitive impairment 90% Hypertelorism 90% Arrhythmia 50% Epicanthus 50% Hypoplasia of the zygomatic bone 50% Macrocephaly 50% Narrow mouth 50% Short stature 50% Abnormality of thumb phalanx 7.5% Atria septal defect 7.5% Full cheeks 7.5% Long philtrum 7.5% Muscular hypotonia 7.5% Pectus carinatum 7.5% Preaxial foot polydactyly 7.5% Seizures 7.5% Thickened helices 7.5% Ventriculomegaly 7.5% Wide nasal bridge 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 Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken 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 pelvic girdle bone morphology 90% Abnormality of the fibula 90% Abnormality of the metaphyses 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Polyhydramnios 90% Short neck 90% Sprengel anomaly 90% Abnormality of the fingernails 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplastic toenails 50% Accelerated skeletal maturation 7.5% Cleft palate 7.5% Tarsal synostosis 7.5% Advanced ossification of carpal bones - Advanced tarsal ossification - Anterior rib cupping - Autosomal recessive inheritance - Brachydactyly syndrome - Disproportionate short-limb short stature - Dumbbell-shaped long bone - Flat acetabular roof - Flat midface - Hypoplastic scapulae - Lateral clavicle hook - Metaphyseal irregularity - Ovoid vertebral bodies - Short ribs - 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.