Druvith/transformed_medDataset huggingface dataset:
What is (are) Q fever ? 
 Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.
What are the symptoms of Osteogenesis imperfecta type II ? 
 What are the signs and symptoms of Osteogenesis imperfecta type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type II. 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 - Absent ossification of calvaria - Autosomal dominant inheritance - Beaded ribs - Blue sclerae - Broad long bones - Congestive heart failure - Convex nasal ridge - Crumpled long bones - Disproportionate short-limb short stature - Large fontanelles - Multiple prenatal fractures - Nonimmune hydrops fetalis - Platyspondyly - Premature birth - Pulmonary insufficiency - Recurrent fractures - Respiratory insufficiency - Small for gestational age - Thin skin - Tibial bowing - Wormian bones - 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 Spondylometaphyseal dysplasia corner fracture type ? 
 What are the signs and symptoms of Spondylometaphyseal dysplasia corner fracture type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia corner fracture type. 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 90% Abnormality of the wrist 90% Hypoplasia of the odontoid process 90% Micromelia 90% Recurrent fractures 90% Short stature 90% Hyperlordosis 50% Abnormality of the metacarpal bones 7.5% Genu valgum 7.5% Kyphosis 7.5% Lower limb asymmetry 7.5% Pes planus 7.5% Scoliosis 7.5% Short distal phalanx of finger 7.5% Tetralogy of Fallot 7.5% Autosomal dominant inheritance - Coxa vara - Hyperconvex vertebral body endplates - Metaphyseal irregularity - Short femoral neck - Spondylometaphyseal dysplasia - Waddling gait - 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 Maturity-onset diabetes of the young, type 5 ? 
 What are the signs and symptoms of Maturity-onset diabetes of the young, type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 5. 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% Nephropathy 90% Diabetes mellitus 50% Biliary tract abnormality 33% Elevated hepatic transaminases 33% Elevated serum creatinine 33% Glucose intolerance 33% Glycosuria 33% Gout 33% Proteinuria 33% Stage 5 chronic kidney disease 33% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of male internal genitalia 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Arthritis 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hepatic steatosis 7.5% Hyperuricemia 7.5% Hypothyroidism 7.5% Joint hypermobility 7.5% Mandibular prognathia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Exocrine pancreatic insufficiency 6/7 Pancreatic hypoplasia 5/6 Renal cyst 19/23 Maturity-onset diabetes of the young 10/13 Abnormality of alkaline phosphatase activity 4/7 Multiple glomerular cysts 4/23 Bicornuate uterus 1/23 Hypoplasia of the uterus 1/23 Renal hypoplasia 1/23 Unilateral renal agenesis 1/23 Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased numbers of nephrons - Epididymal cyst - Hypospadias - Nephrolithiasis - Onset - Phenotypic variability - Ureteropelvic junction obstruction - 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) Danon disease ? 
 Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.
What causes Danon disease ? 
 What causes Danon disease? Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for lysosomal-associated membrane protein 2.
Is Danon disease inherited ? 
 How is Danon disease inherited? Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance.
How to diagnose Danon disease ? 
 Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories.
What are the treatments for Danon disease ? 
 How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient.
What are the symptoms of Onychodystrophy-anonychia ? 
 What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. 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) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - 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 are the symptoms of Hermansky Pudlak syndrome 2 ? 
 What are the signs and symptoms of Hermansky Pudlak syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky Pudlak syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aberrant melanosome maturation - Acetabular dysplasia - Albinism - Autosomal recessive inheritance - Carious teeth - Coarse facial features - Congenital onset - Fair hair - Hepatomegaly - Hip dysplasia - Intellectual disability, mild - Long philtrum - Low-set ears - Microcephaly - Motor delay - Neutropenia - Nystagmus - Ocular albinism - Periodontitis - Photophobia - Posteriorly rotated ears - Pulmonary fibrosis - Recurrent bacterial infections - Reduced visual acuity - Smooth philtrum - Splenomegaly - Strabismus - Thrombocytopenia - Upslanted palpebral fissure - Visual impairment - 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) Ehlers-Danlos syndrome ? 
 Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
What are the symptoms of Ehlers-Danlos syndrome ? 
 What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized.
What causes Ehlers-Danlos syndrome ? 
 What causes Ehlers-Danlos syndrome? Ehlers-Danlos syndrome can be caused by changes (mutations) in several different genes (COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, and ADAMTS2). However, the underlying genetic cause is unknown in some families. Mutations in these genes usually alter the structure, production, and/or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissues throughout the body. A defect in collagen can weaken connective tissues in the skin, bones, blood vessels, and organs resulting in the features of the disorder.
Is Ehlers-Danlos syndrome inherited ? 
 Is Ehlers-Danlos syndrome inherited? The inheritance pattern of Ehlers-Danlos syndrome (EDS) varies by subtype. The arthrochalasia, classic, hypermobility, and vascular forms of the disorder usually have an autosomal dominant pattern of inheritance. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with one of these subtypes has a 50% chance with each pregnancy of passing along the altered gene to his or her child. The dermatosparaxis and kyphoscoliosis types of EDS are inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
How to diagnose Ehlers-Danlos syndrome ? 
 How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagnosis of vascular type, arthrochalasia type, and dermatosparaxis type. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with Ehlers-Danlos syndrome often have abnormalities of certain types of collagen. Genetic testing is available for many subtypes of Ehlers-Danlos syndrome; however, it is not an option for most families with the hypermobility type. Imaging studies such as CT scan, MRI, ultrasound, and angiography may be useful in identifying certain features of the condition. Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing kyphoscoliosis type.
What are the treatments for Ehlers-Danlos syndrome ? 
 How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more specific information on the treatment of each subtype, please click on the links below: Hypermobility type Classic type Vascular type Kyphoscoliosis type Arthrochalasia type Dermatosparaxis type Please speak to your healthcare provider if you have any questions about your personal medical management plan.
What is (are) Polycystic kidney disease ? 
 Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance: (1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause. (2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.