fenil210/Med-Lamma huggingface dataset:
What is (are) Familial stomach cancer ?
Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. Hereditary cancer syndromes associated with a predisposition to gastric cancer include hereditary diffuse gastric cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. In other families, the cluster of stomach cancers may be due to a combination of gene(s) and/or other shared factors such as environment and lifestyle. Depending on the estimated risk, high-risk cancer screening and/or prophylactic surgeries are typically recommended in people who have an increased risk for stomach cancer based on their personal and/or family histories. + GARD + Familial stomach cancer
What are the symptoms of Multicentric osteolysis nephropathy ?
What are the signs and symptoms of Multicentric osteolysis nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multicentric osteolysis nephropathy. 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 metacarpal bones 90% Decreased body weight 90% EMG abnormality 90% Gait disturbance 90% Limitation of joint mobility 90% Proptosis 90% Proteinuria 90% Skeletal muscle atrophy 90% Slender long bone 90% Triangular face 90% Camptodactyly of finger 50% Nephropathy 50% Abnormality of epiphysis morphology 7.5% Downturned corners of mouth 7.5% Polyhydramnios 7.5% Telecanthus 7.5% Wide nasal bridge 7.5% Ankle swelling - Arthralgia - Autosomal dominant inheritance - Carpal osteolysis - Hypertension - Hypoplasia of the maxilla - Metacarpal osteolysis - Metatarsal osteolysis - Osteolysis involving tarsal bones - Osteopenia - Pes cavus - Renal insufficiency - Ulnar deviation of the hand or of fingers of the hand - Wrist swelling - 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. + GARD + Multicentric osteolysis nephropathy
What are the symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?
What are the signs and symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis. 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 - Exudative retinal detachment - Pulmonic stenosis - 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. + GARD + Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
What is (are) Systemic scleroderma ?
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud's phenomenon, which can occur weeks to years before fibrosis. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. There are three types of systemic scleroderma, defined by the tissues affected in the disorder. Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited systemic sclerosis (systemic sclerosis sine scleroderma) + GARD + Systemic scleroderma
What are the symptoms of Systemic scleroderma ?
What are the signs and symptoms of Systemic scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic scleroderma. 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 gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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. + GARD + Systemic scleroderma
What causes Systemic scleroderma ?
What causes systemic scleroderma? The exact, underlying cause of systemic sclerosis is unknown. The cause appears to involve some injury to the cells that line blood vessels, resulting in excessive activation of dermal connective tissue cells, called fibroblasts. Fibroblasts normally produce collagen and other proteins. Build-up of collagen in the skin and other organs causes the signs and symptoms of the condition. It is suspected that scleroderma may develop from a variety of factors, which may include: Abnormal immune or inflammatory activity Genetic susceptibility: while no specific genes are thought to cause scleroderma, certain genes (or combination of genes) may increase a person's risk to be affected. However, the condition is not passed directly from parents to children. Environmental triggers: suspected triggers may include infections; injury; drugs (e.g. vitamin K, cocaine, penicillamine, appetite suppressants and some chemotherapeutic agents); and chemicals (e.g. silica, organic solvents, pesticides, aliphatic hydrocarbons and epoxy resin). Hormones: because women develop scleroderma more often than men, researchers suspect that hormones may play a role. However, the role of female hormones has not been proven. Widespread scleroderma can also occur in association with other autoimmune diseases, including systemic lupus erythematosus and polymyositis. + GARD + Systemic scleroderma
Is Systemic scleroderma inherited ?
Is systemic scleroderma inherited? Most cases of systemic scleroderma are sporadic and are not inherited. This means the condition typically occurs in people with no history of the condition in their family. Some people with systemic scleroderma have relatives with other autoimmune disorders, and a few cases of the condition have been reported to run in families. However, the condition is not caused by a single gene that is passed on to offspring. Multiple genetic and environmental factors likely interact to put someone at an increased risk to develop the condition. + GARD + Systemic scleroderma
How to diagnose Systemic scleroderma ?
Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a "carrier" is not currently available.  Even if someone is known to carry a version of a gene that may make them susceptible to the condition, it does not mean they will definitely develop the condition. You can view a list of centers that may be involved in research projects on systemic scleroderma on Orphanet's Web site. You can also view a list of clinical trials involving people with systemic scleroderma on ClinicalTrials.gov. People interested in learning more about genes and genetic testing for systemic scleroderma should speak with a genetics professional. + GARD + Systemic scleroderma
What is (are) 2q37 deletion syndrome ?
2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited. + GARD + 2q37 deletion syndrome
What causes 2q37 deletion syndrome ?
What causes 2q37 deletion syndrome? 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probably related to the loss of multiple genes in this region. + GARD + 2q37 deletion syndrome
Is 2q37 deletion syndrome inherited ?
How is 2q37 deletion syndrome inherited? Can it be a hidden trait? Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder. + GARD + 2q37 deletion syndrome
What is (are) Pachygyria ?
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive. + GARD + Pachygyria
What are the symptoms of Pachygyria ?
What are the signs and symptoms of pachygyria? Signs and symptoms of pachygyria vary among affected people and can depend on the extent of the abnormality. They often include poor muscle tone and motor function; seizures; developmental delays; intellectual disability; failure to grow and thrive; difficulties with feeding or swallowing; swelling in the extremities; and small head size (microcephaly). Most infants appear physically normal, but some conditions associated with pachygyria cause distinctive facial or skull characteristics. + GARD + Pachygyria
What causes Pachygyria ?
What causes pachygyria? Pachygyria, also called "incomplete lissencephaly," may be caused by various non-genetic (environmental) and genetic factors that play a role in impairing the development of the outer region of the brain (the cerebral cortex). The cerebral cortex is responsible for conscious movement and thought, and should have deep convolutions (gyri) and grooves (sulci), which are formed by "infolding" of the cerebral cortex. During normal embryonic growth, immature cells that later develop into specialized nerve cells (neurons) normally migrate to the brain's surface, making several layers of cells. When this process is impaired, the cells don't migrate to their locations, resulting in too few cell layers and absence (agyria) or incomplete development (pachygyria) of gyri. Environmental factors that contribute to the condition may include intrauterine infection during pregnancy (such as a virus), and insufficient flow of oxygenated blood to the brain (ischemia) during fetal development. More than 25 syndromes due to abnormal migration of neurons have been reported; in some of these cases, the genetic cause and pattern of inheritance depends on that of the specific syndrome. Mutations in several genes have been identified in people with abnormalities of cortical development, including the KIF5C, KIF2A, DYNC1H1, WDR62, and TUBG1 genes. Studies have also found that isolated lissencephaly may result from mutations in the LIS1 and XLIS (also called DCX) genes. People interested in learning about the cause of pachygyria in themselves or family members should speak with their health care provider or a a genetics professional. + GARD + Pachygyria
What are the treatments for Pachygyria ?
How might pachygyria be treated? Because the symptoms of the condition vary from person to person, treatment is symptomatic, and may include anti-seizure medication, such as Trileptal, and special or supplemental education consisting of physical, occupational, and speech therapies. + GARD + Pachygyria
What is (are) Pudendal Neuralgia ?
Pudendal neuralgia occurs when the pudendal nerve is injured or compressed.  Symptoms include pain, burning, tingling, or numbness in the pelvic or buttock areas; symptoms worsen while an affected individual is in a sitting position.  The cause of pudendal neuralgia is unknown.  Treatment includes nerve block of the pudendal nerve or surgery to remove surrounding tissues that might be pressing on the nerve. + GARD + Pudendal Neuralgia
What are the treatments for Pudendal Neuralgia ?
What treatments are available for pudendal neuralgia? There are no established guidelines for the treatment of pudendal neuralgia.  Treatment may include medications, the use of a specialized cushion while sitting, nerve block, surgery to remove nearby tissues that may be pressing on the pudendal nerve, or nerve stimulation. + GARD + Pudendal Neuralgia
What are the symptoms of Thoraco abdominal enteric duplication ?
What are the signs and symptoms of Thoraco abdominal enteric duplication? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoraco abdominal enteric duplication. 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 dermatoglyphics 90% Abnormality of the ribs 90% Abnormality of the tricuspid valve 90% Asymmetric growth 90% Camptodactyly of finger 90% Diastomatomyelia 90% Duodenal stenosis 90% Hepatomegaly 90% Intestinal malrotation 90% Meningocele 90% Respiratory insufficiency 90% Situs inversus totalis 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. + GARD + Thoraco abdominal enteric duplication
What is (are) Chanarin-Dorfman syndrome ?
Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern. + GARD + Chanarin-Dorfman syndrome
What are the symptoms of Chanarin-Dorfman syndrome ?
What are the signs and symptoms of Chanarin-Dorfman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chanarin-Dorfman 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 blood and blood-forming tissues - Alopecia - Ataxia - Autosomal recessive inheritance - Congenital nonbullous ichthyosiform erythroderma - Ectropion - Hepatic steatosis - Hepatomegaly - Intellectual disability - Microtia - Muscle weakness - Myopathy - Nystagmus - Sensorineural hearing impairment - Strabismus - Subcapsular cataract - 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. + GARD + Chanarin-Dorfman syndrome
What is (are) Squamous cell carcinoma ?
Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable. + GARD + Squamous cell carcinoma