Vanquish44/Healthcare_NLP huggingface dataset:
Question: What are the symptoms of Congenital ectodermal dysplasia with hearing loss ?
Answer: What are the signs and symptoms of Congenital ectodermal dysplasia with hearing loss? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital ectodermal dysplasia with hearing loss. 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 hair quantity 90% Camptodactyly of finger 90% Sensorineural hearing impairment 90% Short stature 90% Arachnodactyly 50% Carious teeth 50% Coarse hair 50% Cognitive impairment 50% Hyperkeratosis 50% Kyphosis 50% Scoliosis 50% Autosomal recessive inheritance - Hidrotic ectodermal dysplasia - Joint contracture of the hand - Thoracic scoliosis - 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.

Topic: Congenital ectodermal dysplasia with hearing loss
Source: GARD
Question: What is (are) Amelogenesis imperfecta ?
Answer: 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.

Topic: Amelogenesis imperfecta
Source: GARD
Question: What are the symptoms of Amelogenesis imperfecta ?
Answer: 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.

Topic: Amelogenesis imperfecta
Source: GARD
Question: What causes Amelogenesis imperfecta ?
Answer: 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.

Topic: Amelogenesis imperfecta
Source: GARD
Question: Is Amelogenesis imperfecta inherited ?
Answer: 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.

Topic: Amelogenesis imperfecta
Source: GARD
Question: How to diagnose Amelogenesis imperfecta ?
Answer: 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.

Topic: Amelogenesis imperfecta
Source: GARD
Question: What are the treatments for Amelogenesis imperfecta ?
Answer: 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.

Topic: Amelogenesis imperfecta
Source: GARD
Question: What is (are) TEMPI syndrome ?
Answer: TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib.

Topic: TEMPI syndrome
Source: GARD
Question: What are the symptoms of Oculo skeletal renal syndrome ?
Answer: What are the signs and symptoms of Oculo skeletal renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo skeletal renal 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 pelvic girdle bone morphology 90% Abnormality of retinal pigmentation 90% Abnormality of the humeroulnar joint 90% Abnormality of the metacarpal bones 90% Abnormality of the renal tubule 90% Abnormality of the toenails 90% Astigmatism 90% Brachydactyly syndrome 90% Conductive hearing impairment 90% Deviation of finger 90% Dolichocephaly 90% Hypertension 90% Madelung deformity 90% Micromelia 90% Myopia 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Upslanted palpebral fissure 90% 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.

Topic: Oculo skeletal renal syndrome
Source: GARD
Question: What are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ?
Answer: What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - Ventricular septal defect - 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.

Topic: Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly
Source: GARD
Question: What are the symptoms of Infundibulopelvic dysgenesis ?
Answer: What are the signs and symptoms of Infundibulopelvic dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infundibulopelvic dysgenesis. 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) Multicystic kidney dysplasia 90% Abdominal pain - Autosomal dominant inheritance - Microscopic hematuria - 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.

Topic: Infundibulopelvic dysgenesis
Source: GARD
Question: What is (are) Jejunal atresia ?
Answer: Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Common symptoms include feeding difficulties, failure to thrive, vomiting bile (a bitter-tasting yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.

Topic: Jejunal atresia
Source: GARD
Question: What are the symptoms of Jejunal atresia ?
Answer: What are the signs and symptoms of Jejunal atresia? Signs and symptoms of jejunal atresia vary but may include: Feeding difficulties Failure to thrive Vomiting bile (a bitter-tasting yellowish-green fluid) Abdominal swelling, especially the upper middle part just below the breast bone Absence of bowel movements after birth The Human Phenotype Ontology provides the following list of signs and symptoms for Jejunal atresia. 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 - Jejunal atresia - 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.

Topic: Jejunal atresia
Source: GARD
Question: What causes Jejunal atresia ?
Answer: What causes jejunal atresia? Jejunal atresia occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Jejunal atresia typically occurs sporadically in people with no family history of the condition. In these cases, the exact underlying cause is generally unknown; however, scientists suspect that it may be a consequence of disrupted blood flow in the developing fetus. Rarely, more than one family member can be affected by jejunal atresia, suggesting that there may be a genetic component in some cases.

Topic: Jejunal atresia
Source: GARD
Question: Is Jejunal atresia inherited ?
Answer: Is jejunal atresia inherited? Most cases of jejunal atresia occur sporadically in people with no family history of the condition. However, it can rarely affect more than one family member. In these families, jejunal atresia is likely due to a genetic cause and appears to be inherited in an autosomal recessive or multifactorial manner.

Topic: Jejunal atresia
Source: GARD
Question: How to diagnose Jejunal atresia ?
Answer: How is jejunal atresia diagnosed? In some cases, jejunal atresia may be diagnosed before birth on a prenatal ultrasound. After birth, a diagnosis is often suspected based on the presence of characteristic signs and symptoms. Additional testing such as X-rays with or without contrast can then be ordered to confirm the diagnosis.

Topic: Jejunal atresia
Source: GARD
Question: What are the treatments for Jejunal atresia ?
Answer: How might jejunal atresia be treated? Jejunal atresia is typically treated with surgery. Total parenteral nutrition (TPN) is generally necessary for a period of time following surgery until normal meals are tolerated.

Topic: Jejunal atresia
Source: GARD
Question: What is (are) Livedoid vasculopathy ?
Answer: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.

Topic: Livedoid vasculopathy
Source: GARD
Question: What are the treatments for Livedoid vasculopathy ?
Answer: How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therapy, and avoiding smoking and hormonal contraceptives. Treatments will also be given to address any co-occurring conditions such as lupus or thrombophilia. Drugs that aim to improve blood flow or prevent blood clotting may also be considered. Examples of these treatments, include: Antiplatelet agents (e.g. aspirin, dipyridamole) Fibrinolytic agents (e.g. danazol, tissue plasminogen activator) Anticoagulant agents (e.g. subcutaneous heparin injections, oral warfarin) Pentoxifylline Low-dose danazol (200 mg/day orally) Hyperbaric oxygen Pulsed intravenous immunoglobulin Iloprost Ketanserin Psoralen plus ultraviolet A (PUVA) therapy Niacin (nicotinic acid) Sulfapyridine Guanethidine Currently there are no established guidelines for treatment. Decisions for treatment are made based on the clinicians clinical experience and specific patient characteristics. We strongly recommend that you discuss this information and your treatment options further with a trusted healthcare professional.

Topic: Livedoid vasculopathy
Source: GARD
Question: What are the symptoms of Caudal appendage deafness ?
Answer: What are the signs and symptoms of Caudal appendage deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Caudal appendage deafness. 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 pinna 90% Conductive hearing impairment 90% Epicanthus 90% Hydrocephalus 90% Hypoplasia of penis 90% Long palpebral fissure 90% Microcephaly 90% Short stature 90% Triangular face 90% Abnormality of the ribs 50% Abnormality of the testis 50% Astigmatism 50% Delayed skeletal maturation 50% Deviation of finger 50% Hypermetropia 50% Nystagmus 50% Premature birth 50% Respiratory insufficiency 50% Symphalangism affecting the phalanges of the hand 50% Wide mouth 50% 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.

Topic: Caudal appendage deafness
Source: GARD