Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Familial hypercholesterolemia ? 
 What are the signs and symptoms of Familial hypercholesterolemia? Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include: Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a heart attack by age 60. Affected women may have heart attacks in their 50s and 60s. Individuals with the rare, autosomal recessive form of FH (also called homozygous FH) develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy. In individuals with this form of FH, heart attacks and/or death may occur before age 30, sometimes in young children if they are not aggressively treated. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hypercholesterolemia. 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) Corneal arcus - 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.
Is Familial hypercholesterolemia inherited ? 
 How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (mutated) copy of the gene is sufficient to cause the condition. In most cases the mutated gene is inherited from an affected parent, but it is possible for the mutation to occur for the first time in the affected individual. An individual with an autosomal dominant condition has a 50% (1 in 2) chance to pass the mutation on to each of his/her children and a 50% chance to not pass on the mutation. More rarely, familial FH may be inherited in an autosomal recessive manner. This occurs when an individual inherits a mutated copy of the gene from both parents (this is also called homozygous FH). This is a much more severe form of FH. An individual with this form of FH will always pass on a mutated copy of the gene, and therefore each of his/her children will have heterozygous FH.
What are the treatments for Familial hypercholesterolemia ? 
 How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozygous form (also called the autosomal dominant form) is changing the diet to reduce the total amount of fat eaten. This may be accomplished by limiting the amount of beef, pork, and lamb in the diet; cutting out butter, whole milk, fatty cheeses and oils; and eliminating egg yolks, organ meats and other sources of saturated fat from animals. Dietary counseling is often recommended to help individuals change their eating habits. Exercise and weight loss may also help in lowering cholesterol levels. Drug therapy is also often necessary lifestyle changes may not be enough to lower cholesterol levels. Several different cholesterol-lowering medications may be used alone or in combination; they may include statins, bile acid sequestrants, ezetemibe, niacin, gemfibrozil, and fenofibrate. Individuals with the more severe, homozygous form of FH (also called the autosomal recessive form) need more aggressive therapies to treat their significantly elevated levels of cholesterol. Drug therapy is often not effective enough at lowering LDL cholesterol levels. Therefore, individuals with this form may need periodical LDL apheresis, a procedure that removes LDL from the blood. In some cases, major surgery such as a liver transplant is necessary.
What is (are) Froelich syndrome ? 
 Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired (i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.
What are the symptoms of Froelich syndrome ? 
 What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have mental retardation, difficulties with vision, and in rare cases diabetes. Other symptoms of the syndrome may include excessive thirst, excessive urination, and very delicate skin.
What causes Froelich syndrome ? 
 What causes Froelich syndrome? Froehlich syndrome is usually caused by lesions in the hypothalamic gland or pituitary gland. The lesions may be caused by a tumor (e.g., craniopharyngioma), swelling from an infection (e.g., tuberculosis), encephalitis, or other brain injuries.
How to diagnose Froelich syndrome ? 
 How might Froelich syndrome be diagnosed? Diagnosis of Froelich syndrome may be difficult and requires cautious and thoughtful clinical examination, testing urine for low levels of pituitary hormones, and likely other additional tests before a definitive diagnosis of Froehlich syndrome can be made.
What is (are) Tracheobronchopathia osteoplastica ? 
 Tracheobronchopathia osteoplastica (TO) is a rare condition of the large airways. It is characterized by the presence of multiple growths (nodules) made of bone and cartilage tissue, in the submucosa of the tracheobronchial wall. The nodules protrude into the spaces inside the trachea and bronchi, which can lead to airway obstruction. Affected people may have persisting or recurrent respiratory symptoms, and/or recurrent infections. The cause of TO is not currently known. There is no specific treatment to prevent the formation of nodules. Laser therapy or removal of the nodules may be needed in some cases.
What are the symptoms of Tracheobronchopathia osteoplastica ? 
 What are the signs and symptoms of Tracheobronchopathia osteoplastica? Symptoms of tracheobronchopathia osteoplastica (TO) may be absent or non-specific. Affected people may have various respiratory symptoms such as cough, wheezing, coughing up blood (hemoptysis), and/or recurrent upper airway infections. Stridor and low-pitched wheezing may occur if there is severe airway obstruction. In some cases, obstruction of the lobar bronchi can cause recurrent atelectasis (collapse of the lung) or pneumonia. Nodules seem to remain stable over years, or progress at a very slow rate. It is thought that over 90% of cases are diagnosed incidentally on autopsy. Rapid progression has been reported rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheobronchopathia osteoplastica. 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 skeletal system - Autosomal dominant inheritance - Cough - Dyspnea - Hemoptysis - Hoarse voice - Recurrent pneumonia - 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 Tracheobronchopathia osteoplastica ? 
 What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.
Is Tracheobronchopathia osteoplastica inherited ? 
 Is tracheobronchopathia osteoplastica inherited? There is no known genetic susceptibility to the development of TO, and it typically occurs in people with no known history of the condition in their family. Familial occurrence has been reported only once, in a woman and her daughter.
How to diagnose Tracheobronchopathia osteoplastica ? 
 How is tracheobronchopathia osteoplastica diagnosed? Fiberoptic bronchoscopy is thought to be the best procedure to diagnose tracheobronchopathia osteoplastica (TO). This procedure is done when it is important to see the airways or to get samples of mucus or tissue from the lungs. It involves placing a thin, tube-like instrument through the nose or mouth and down into the lungs. During this procedure a bronchial biopsy is usually performed, but samples are sometimes hard to obtain. TO is usually an incidental finding during fiberoptic bronchoscopy, and is rarely suspected before the procedure is done.
What are the treatments for Tracheobronchopathia osteoplastica ? 
 How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.
What is (are) Inflammatory linear verrucous epidermal nevus ? 
 Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to early childhood. It affects females more often than males. It usually occurs alone. Rarely ILVEN occurs in association with epidermal nevus syndrome. While rare ILVEN may become cancerous (i.e., transform to basal cell or squamous cell carcinoma). The cause of ILVEN is currently unknown. Click here to visit the DermNetNZ Web site and view an image of ILVEN.
What is (are) Olmsted syndrome ? 
 Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin.
What are the symptoms of Olmsted syndrome ? 
 What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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 fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual hyperkeratosis - 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 is (are) Nablus mask-like facial syndrome ? 
 Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities (contractures) that restrict movement in the hands and feet; unusual dentition; mild developmental delay; undescended testicles in males (cryptorchidism); and a happy disposition. This condition is caused by a deletion at chromosome 8q22.1.
What are the symptoms of Nablus mask-like facial syndrome ? 
 What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial 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 antihelix 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Blepharophimosis 90% Cryptorchidism 90% Depressed nasal ridge 90% External ear malformation 90% Highly arched eyebrow 90% Lack of skin elasticity 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Pointed helix 90% Sacrococcygeal pilonidal abnormality 90% Telecanthus 90% Abnormality of dental morphology 50% Abnormality of the nipple 50% Camptodactyly of finger 50% Cognitive impairment 50% Limitation of joint mobility 50% Microcephaly 50% Sandal gap 50% Short neck 50% Abnormal hair quantity 7.5% Abnormality of the eyelashes 7.5% Abnormality of the nares 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Abnormality of the teeth - Autosomal recessive inheritance - Broad neck - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Happy demeanor - High palate - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic nipples - Joint contracture of the hand - Labial hypoplasia - Low anterior hairline - Low-set ears - Mask-like facies - Micropenis - Narrow forehead - Narrow mouth - Posteriorly rotated ears - Postnatal microcephaly - Prominent glabella - Retrognathia - Short nose - Short palpebral fissure - Smooth philtrum - Sparse eyebrow - Sparse eyelashes - Sporadic - Tapered finger - 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.
What is (are) Pretibial epidermolysis bullosa ? 
 Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the "pretibial region"). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring. Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Pretibial epidermolysis bullosa ? 
 What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial 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% Atypical scarring of skin 50% Pruritus 50% Hyperkeratosis 7.5% Lichenification 7.5% Autosomal dominant inheritance - Pretibial blistering - 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 symptoms of Malignant hyperthermia arthrogryposis torticollis ? 
 What are the signs and symptoms of Malignant hyperthermia arthrogryposis torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia arthrogryposis torticollis. 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) Camptodactyly of finger 90% Congenital muscular torticollis 90% Facial asymmetry 90% Limitation of joint mobility 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Plagiocephaly 90% Prominent metopic ridge 90% Scoliosis 90% Skeletal muscle atrophy 90% Talipes 90% Tapered finger 90% Ulnar deviation of finger 90% Webbed neck 90% Abnormality of the nipple 50% Abnormality of the voice 50% Amniotic constriction ring 50% Arachnodactyly 50% Cleft palate 50% Conductive hearing impairment 50% Cryptorchidism 50% Downturned corners of mouth 50% Malignant hyperthermia 50% Mask-like facies 50% Narrow mouth 50% Pectus excavatum 50% Prominent nasal bridge 50% Ptosis 50% Scrotal hypoplasia 50% Short stature 50% Abnormality of the fingernails 7.5% Abnormality of the ribs 7.5% Abnormality of the skin 7.5% Advanced eruption of teeth 7.5% Asymmetric growth 7.5% Broad alveolar ridges 7.5% Dolichocephaly 7.5% Exaggerated cupid's bow 7.5% Finger syndactyly 7.5% Full cheeks 7.5% Hernia of the abdominal wall 7.5% Hypotelorism 7.5% Kyphosis 7.5% Malar flattening 7.5% Muscular hypotonia 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Proptosis 7.5% Respiratory insufficiency 7.5% Sloping forehead 7.5% Abnormality of the mandible - Autosomal recessive inheritance - Natal tooth - 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.