bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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 female external genitalia 90% Displacement of the external urethral meatus 90% Exstrophy 90% Hypoplasia of penis 90% Umbilical hernia 90% Vesicoureteral reflux 90% Recurrent urinary tract infections 50% Bowel incontinence 7.5% Intestinal malrotation 7.5% Omphalocele 7.5% Abnormality of pelvic girdle bone morphology - Anteriorly placed anus - Autosomal dominant inheritance - Bladder exstrophy - Epispadias - Horseshoe kidney - Hydroureter - Inguinal hernia - 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.
LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the characteristic features associated with this condition: (L)entigines (multiple dark spots on the skin; (E)lectrocardiographic conduction defects (abnormalities of the electrical activity of the heart); (O)cular hypertelorism (widely spaced eyes); (P)ulmonary stenosis (obstruction of the normal outflow of blood from the right ventricle of the heart); (A)bnormalities of the genitalia; (R)etarded growth resulting in short stature; and (D)eafness or hearing loss. There are three types of LEOPARD syndrome, which are distinguished by their underlying genetic cause. LEOPARD syndrome type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Some cases are inherited from a parent in an autosomal dominant pattern. Other times, LEOPARD syndrome occurs in people without a family history of the condition due to a new gene mutation.
What are the signs and symptoms of LEOPARD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD 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 pulmonary artery 90% Abnormality of the pulmonary valve 90% Arrhythmia 90% Freckling 90% Hyperextensible skin 90% Hypertelorism 90% Intrauterine growth retardation 90% Melanocytic nevus 90% Myelodysplasia 90% Sensorineural hearing impairment 90% Abnormality of the mitral valve 50% Abnormality of the nose 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Decreased fertility 50% Hypertrophic cardiomyopathy 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Pectus excavatum 50% Ptosis 50% Sprengel anomaly 50% Webbed neck 50% Abnormal localization of kidney 7.5% Abnormality of calvarial morphology 7.5% Abnormality of the endocardium 7.5% Abnormality of the voice 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cognitive impairment 7.5% Coronary artery disease 7.5% Displacement of the external urethral meatus 7.5% Leukemia 7.5% Melanoma 7.5% Neuroblastoma 7.5% Scoliosis 7.5% Short stature 7.5% Spina bifida occulta 7.5% Triangular face 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 Hypercholesterolemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypercholesterolemia, autosomal dominant. 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 - Corneal arcus - Coronary artery disease - Hypercholesterolemia - Xanthelasma - 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 Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet. 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% Midline defect of the nose 90% Muscular hypotonia 90% Narrow forehead 90% Prominent metopic ridge 90% Trigonocephaly 90% Wide mouth 90% Autosomal recessive inheritance - Bifid nasal tip - Bifid nose - Brachycephaly - Broad metatarsal - Broad phalanx - Bulbous nose - Severe global developmental delay - 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.
Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The condition can be caused by alterations (mutations) in the CYLD gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2.  Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.
What are the signs and symptoms of Multiple familial trichoepithelioma? People with multiple familial trichoepithelioma typically develop large large numbers of smooth, round, firm skin-colored tumors called trichoepitheliomas, which arise from hair follicles. These benign (noncancerous) tumors may occasionally transform into a type of skin cancer called basal cell carcinoma. Occasionally, other types of tumors, including growths called spiradenomas (which originate in sweat glands) and cylindromas (which likely originate in hair follicles) also develop. Affected individuals are also at-risk to develop tumors in other tissues, particularly benign tumors of the salivary glands. The tumors in multiple familial trichoepithelioma typically first appear during childhood or adolescence, and appear most often around the nose, forehead, upper lip, and occasionally scalp, neck, and upper trunk. They may grow larger and increase in number over time. In rare cases, the tumors may get in the way of the eyes, ears, nose, or mouth and affect vision or hearing. The growths can be disfiguring and may contribute to depression or other psychological problems. For reasons that remain unknown, females are often more severely affected than males.  The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple familial trichoepithelioma. 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) Neoplasm of the skin 90% Telangiectasia of the skin 50% Basal cell carcinoma 5% Adult onset - 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.
What causes multiple familial trichoepithelioma? Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. Reduced penetrance means that not everyone with the gene mutation will develop symptoms of the condition. Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene which is found on chromosome 16 or by a mutation on a gene on chromsome 9 that has yet to be identified.
How is multiple familial trichoepithelioma diagnosed? Diagnosis of multiple familial trichoepithelioma is made based upon the clinical symptoms in the patient, the patients family history, and the appearance of the trichoepithelioma cells under a microscope (histology). Multiple familial trichoepithelioma must be distinguished from basal cell carcinoma (cancerous tumor) and other rare genetic syndromes such as Cowden syndrome.
How might multiple familial trichoepithelioma be treated? Several therapies have been used to treat multiple trichoepitheliomas, with variable results.  A single trichoepithelioma may be treated with surgery.  Cryosurgery or laser surgery may be used to remove multiple trichoepitheliomas.  Imiquimod cream has also been used as a treatment for trichoepitheliomas, with some improvement in symptoms.  Other treatments have included dermabrasion, photodynamic therapy, and other medications.  However, in most cases, multiple trichoepitheliomas eventually regrow following treatment.
What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 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) Abnormal pyramidal signs 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Areflexia - Decreased nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: axonal abnormality - Foot dorsiflexor weakness - Pes cavus - Steppage gait - Upper limb muscle weakness - X-linked recessive 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.
Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner. Treatment typically includes treating blisters and avoiding infection.
What are the signs and symptoms of Dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is consivered to be a more mild form of dystrophic epidermolysis bullosa (DEB). Blistering is often limited to the hands, feet, knees, and elbows. Blistering may be relatively benign, but still heals with scarring and milia. Dystrophic nails, especially toenails, are common and loss of nails may occur. In the mildest forms, dystrophic nails may be the only characteristic noted. Blistering in DDEB often improves somewhat with age. The Human Phenotype Ontology provides the following list of signs and symptoms for Dominant dystrophic epidermolysis bullosa. 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 blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Cheilitis 90% Carious teeth 50% Hypopigmented skin patches 50% Abnormal renal physiology 7.5% Abnormality of the urethra 7.5% Anemia 7.5% Corneal erosion 7.5% Feeding difficulties in infancy 7.5% Tracheoesophageal fistula 7.5% Atrophic scars - Autosomal dominant inheritance - Congenital onset - Milia - Nail dysplasia - Nail dystrophy - 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 dominant dystrophic epidermolysis bullosa? Dominant dystrophic epidermolysis bullosa (DDEB) is caused by mutations in the COL7A1 gene. The COL7A1 gene provides instructions for making a protein that is used to assemble type VII collagen. Collagen gives structure and strength to connective tissues, such as skin, tendons, and ligaments, throughout the body. Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis. COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal. A diagram of the skin structure including the area of skin implicated in DDEB is provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases. Click on the link for more.
How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.
How might dominant dystrophic epidermolysis bullosa be treated? There is currently no cure for all types of dystrophic epidermolysis bullosa (DEB). Treatment generally focuses on managing signs and symptoms. For some individuals, such as those that have a mild form of dominant dystrophic epidermolysis bullosa (DDEB), dystrophic nails may be the only manifestation. However, other individuals may have much more severe problems that need to be managed. Management typically focuses on treating blisters and avoiding or treating infections. Wound care usually included treatment of new blisters by lancing and draining. Additionally in most cases, wounds are then dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Due to the increased risk of bacterial resistance, topical antibiotic ointments and antimicrobial dressings should be reserved for those wounds that are colonized with bacteria and fail to heal, referred to as critical colonization." Individuals with epidermolysis bullosa (EB) have increased caloric and protein needs due to the increased energy utilized in wound healing. Involvement of the digestive system in some forms of EB may limit nutritional intake. Infants and children with more severe forms of EB and failure to thrive usually require attention to fluid and electrolyte balance and may require nutritional support, including a gastrotomy feeding tube. Anemia is typically treated with iron supplements and transfusions as needed. Other nutritional supplements may include calcium, vitamin D, selenium, carnitine, and zinc. Surveillance is important for individuals with DEB. Biopsies of abnormal-appearing wounds that do not heal may be recommended in some types of DEB due to predisposition to squamous cell carcinoma, beginning in the second decade of life. Screening for deficiencies of iron, zinc, vitamin D, selenium, and carnitine is typically recommended after the first year of life. Routine echocardiograms are recommended to identify dilated cardiomyopathy, and bone mineral density studies are recommended to identify osteoporosis. Activities and bandages that may traumatize the skin (including all adhesives) should typically be avoided. Recent treatment advancements and therapies under investigation include but are not limited to:  Use of biological dressings to treat chronic or recurrent skin ulcers Bone marrow transplantation Intra-dermal (in the skin) injection of fibroblasts Protein replacement therapy (intra-dermal injection of type VII collagen)  Gene therapy Revertant mosaicism Gene correction technologies (ex. CRISPR) DEBRA International has developed clinical practice guidelines for different aspects of treating EB including wound care and pain management. Click on the link to see their completed guidelines.