bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Angel shaped phalangoepiphyseal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Angel shaped phalangoepiphyseal 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 hip bone 50% Delayed eruption of teeth 50% Short stature 50% Delayed skeletal maturation 7.5% Delayed ossification of carpal bones - Hip osteoarthritis - Hyperextensibility of the finger joints - Premature osteoarthritis - Pseudoepiphyses of the metacarpals - 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.
Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What are the signs and symptoms of Chromosome 8q24.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8q24.3 deletion 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 cardiac septa - Autosomal dominant inheritance - Cerebral atrophy - Clinodactyly - Coloboma - Congenital onset - Feeding difficulties - Hemivertebrae - Hip dislocation - Long philtrum - Microcephaly - Narrow forehead - Phenotypic variability - Renal agenesis - Renal cyst - Renal hypoplasia - Scoliosis - Short 5th finger - Short neck - Short nose - Short stature - Vertebral fusion - Wide nasal bridge - 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.
Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.
What are the signs and symptoms of amelogenesis imperfecta? In general, the both primary and permanent teeth are affected. The enamel tends to be soft and weak, and the teeth appear yellow and damage easily. The defects associated with amelogeneis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is not mineralized and is thus described as hypomineralized. Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance. There are four principal types based on the defects in the tooth enamel. These types are subdivided into 14 different subtypes based on the clinical presentation and the mode of inheritance. Detailed information about the signs and symptoms associated with the four major types of amelogenesis imperfecta is available from the UNC School of Dentistry.
What causes amelogenesis imperfecta? Amelogenesis imperfecta is caused by mutations in the AMELX, ENAM, and MMP20 genes. These genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder. Click on each gene name to learn more about the role it plays in the development of tooth enamel.
How is amelogenesis imperfecta inherited? Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.
How is amelogenesis imperfecta diagnosed? A dentist can identify and diagnose amelogenesis imperfecta on the basis of the patient's family history and the signs and symptoms present in the affected individual. Extraoral X-rays (X-rays taken outside the mouth) can reveal the presence of teeth that never erupted o that were absorbed. Intraoral X-rays (X-rays taken inside the mouth) show contrast between the enamel and dentin in cases in which mineralization is affected. Genetic testing is available for the genes AMELX, ENAM, and MMP20. You can visit the Genetic Testing Registry to locate laboratories performing genetic testing for these genes. The American Academy of Pediatric Dentistry is a source of information to find a pediatric dentist. The National Dental Association can also assist people in locating a dentist.
How might amelogenesis imperfecta be treated? Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality. Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases. The social and emotional impact of this condition should also be addressed. Detailed information on the treatment of amelogenesis imperfecta is available from the UNC School of Dentistry.
What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain 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) Adult onset - Autosomal dominant inheritance - Infantile onset - Pain - 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 Hepatic venoocclusive disease with immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic venoocclusive disease with immunodeficiency. 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 liver - Absence of lymph node germinal center - Autosomal recessive inheritance - Endocardial fibrosis - IgG deficiency - Immunodeficiency - Microcephaly - 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 Nephrotic syndrome, idiopathic, steroid-resistant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrotic syndrome, idiopathic, steroid-resistant. 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 - Edema - Focal segmental glomerulosclerosis - Hyperlipidemia - Hypoalbuminemia - Juvenile onset - Nephrotic syndrome - Proteinuria - Rapidly progressive - Stage 5 chronic kidney disease - Variable expressivity - 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 Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 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) Autosomal dominant inheritance - Erythrocyte macrocytosis - Macrocytic anemia - Persistence of hemoglobin F - Reticulocytopenia - 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 Desmoid tumor? The Human Phenotype Ontology provides the following list of signs and symptoms for Desmoid tumor. 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 abdominal wall 90% Sarcoma 90% Abdominal pain 50% Intestinal polyposis 50% Myalgia 50% Epidermoid cyst 33% Abnormality of retinal pigmentation 7.5% Abnormality of the upper urinary tract 7.5% Arthralgia 7.5% Chest pain 7.5% Gastrointestinal hemorrhage 7.5% Intestinal obstruction 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Sepsis 7.5% Colon cancer 5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Von Hippel-Lindau (VHL) disease is an inherited disorder characterized by the abnormal growth of both benign and cancerous tumors and cysts in many parts of the body. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors. VHL disease is caused by a mutation in the VHL gene and is inherited in an autosomal dominant manner. Early detection and treatment of VHL disease is important, and usually involves surgical removal of tumors.
How is von Hippel-Lindau (VHL) disease inherited? Mutations in the gene that causes VHL disease (the VHL gene) are inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the VHL gene in each cell is enough to increase a person's risk of developing VHL disease. In most autosomal dominant conditions, having one mutated copy of the responsible gene is sufficient to cause the condition. However, in VHL disease, a mutation in the other copy of the gene must occur (during a person's lifetime) to trigger the development of VHL disease. For example, a person may inherit a mutated copy of the gene from a parent, but acquiring a second mutation in the other gene copy in a specific organ may trigger tumor development in that organ. Almost everyone who is born with one VHL mutation will eventually acquire a mutation in the second copy of the gene and develop VHL disease. In most cases, an affected person inherits the first mutated gene from an affected parent. However, in about 20% of cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that can lead to VHL disease has children, each of their children has a 50% (1 in 2) chance to inherit that mutation.
How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.
How might von Hippel-Lindau (VHL) disease be treated? Treatment for Von Hippel-Lindau (VHL) disease depends on the location and size of tumors. In general, the goal is to treat growths when they cause symptoms, but are still small so they don't cause permanent damage. Treatment usually involves surgical removal of tumors. Radiation therapy may be used in some cases. All people with VHL disease should be carefully followed by a physician or medical team familiar with the disorder.
What are the signs and symptoms of Dystonia 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 16. 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 5% Abnormal pyramidal signs - Autosomal recessive inheritance - Bradykinesia - Delayed speech and language development - Dysarthria - Dysphagia - Gait disturbance - Hyperreflexia - Involuntary movements - Laryngeal dystonia - Limb dystonia - Lower limb pain - Morphological abnormality of the pyramidal tract - Motor delay - Parkinsonism - Postural tremor - Progressive - Retrocollis - 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 Frontofacionasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontofacionasal 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) Aplasia/Hypoplasia involving the nose 90% Blepharophimosis 90% Broad forehead 90% Cleft eyelid 90% Depressed nasal bridge 90% Depressed nasal ridge 90% Facial cleft 90% Hypertelorism 90% Malar flattening 90% Non-midline cleft lip 90% Ptosis 90% Short nose 90% Short stature 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the eyelashes 50% Abnormality of the sense of smell 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Encephalocele 50% Epibulbar dermoid 50% Facial asymmetry 50% Iris coloboma 50% Midline defect of the nose 50% Preauricular skin tag 50% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cataract 7.5% Choanal atresia 7.5% Microcornea 7.5% Sacrococcygeal pilonidal abnormality 7.5% Absent inner eyelashes - Ankyloblepharon - Autosomal recessive inheritance - Bifid nose - Bifid uvula - Brachycephaly - Cranium bifidum occultum - Frontal cutaneous lipoma - Hypoplasia of midface - Hypoplasia of the frontal bone - Microphthalmia - Oral cleft - S-shaped palpebral fissures - Underdeveloped nasal alae - 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.