fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Potocki-Lupski syndrome ?
What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski 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 chromosome segregation 90% Abnormality of the pharynx 90% Apnea 90% Attention deficit hyperactivity disorder 90% Autism 90% Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Broad forehead 50% EEG abnormality 50% Hypermetropia 50% Scoliosis 50% Triangular face 50% Abnormality of dental morphology 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Dental malocclusion 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Short stature 7.5% Wide mouth 7.5% Hypothyroidism 5% Abnormal renal morphology - Abnormality of the cardiovascular system - Autosomal dominant inheritance - Delayed myelination - Dental crowding - Dysphasia - Echolalia - Expressive language delay - Failure to thrive - Feeding difficulties in infancy - Gastroesophageal reflux - Generalized hypotonia - High palate - Hyperactivity - Hypocholesterolemia - Hypoplasia of the corpus callosum - Intellectual disability, mild - Language impairment - Mandibular prognathia - Oral-pharyngeal dysphagia - Patent foramen ovale - Phenotypic variability - Poor eye contact - Prominent nasal tip - Receptive language delay - Seizures - Sleep apnea - Small for gestational age - Smooth philtrum - Sporadic - Stereotypic behavior - Trigonocephaly - 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 + Potocki-Lupski syndrome
What is (are) Trigeminal neuralgia ?
Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of the face), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. + GARD + Trigeminal neuralgia
What are the symptoms of Trigeminal neuralgia ?
What are the signs and symptoms of Trigeminal neuralgia? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigeminal neuralgia. 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 - Trigeminal neuralgia - 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 + Trigeminal neuralgia
What is (are) Anaplastic ganglioglioma ?
Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The main treatment is removal of the entire tumor during surgery.  If the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy.  Unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition. + GARD + Anaplastic ganglioglioma
What are the symptoms of Papillary thyroid carcinoma ?
What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid carcinoma. 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 - Papillary thyroid carcinoma - 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 + Papillary thyroid carcinoma
What are the symptoms of Oculocutaneous albinism type 3 ?
What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism 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) Nystagmus 90% Ocular albinism 90% Freckling 50% Strabismus 50% Cutaneous photosensitivity 7.5% Albinism - Autosomal recessive inheritance - Partial albinism - Red hair - 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 + Oculocutaneous albinism type 3
What is (are) Multicentric Castleman Disease ?
Multicentric Castleman disease (MCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is "systemic" and affects multiple sets of lymph nodes and other tissues throughout the body (as opposed to unicentric Castleman disease which has more "localized" effects). The signs and symptoms of MCD are often nonspecific and blamed on other, more common conditions. They can vary but may include fever; weight loss; fatigue; night sweats; enlarged lymph nodes; nausea and vomiting; and an enlarged liver or spleen. The eact underlying cause is unknown. Treatment may involve immunotherapy, chemotherapy, corticosteroid medications and/or anti-viral drugs. + GARD + Multicentric Castleman Disease
What are the symptoms of Multicentric Castleman Disease ?
What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigue Shortness of breath Nausea and vomiting Enlarged liver or spleen Peripheral neuropathy Skin abnormalities such as rashes and/or pemphigus Less commonly (<10% of cases), people affected by MCD will have no signs or symptoms of the condition. Other conditions associated with MCD include amyloidosis, POEMS syndrome, autoimmune disease, hemolytic anemia, and immune thrombocytopenic purpura (ITP). + GARD + Multicentric Castleman Disease
What causes Multicentric Castleman Disease ?
What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of MCD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with MCD. HHV-8 is found in nearly all people who are HIV-positive and develop MCD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause MCD by making its own IL-6. + GARD + Multicentric Castleman Disease
Is Multicentric Castleman Disease inherited ?
Is multicentric Castleman disease inherited? Although the exact underlying cause of multicentric Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. + GARD + Multicentric Castleman Disease
How to diagnose Multicentric Castleman Disease ?
How is multicentric Castleman disease diagnosed? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. However, if MCD is suspected, the following tests may be recommended to help establish the diagnosis and rule out other conditions that cause similar features: Blood tests can be ordered to evaluate the levels of Interleukin-6 (IL-6) and other substances in the body, which can be elevated in people with MCD. They can also be helpful in ruling out other autoimmune conditions and infections that are associated with similar signs and symptoms Imaging studies (such as a CT scan, PET scan, MRI scan, and/or ultrasound) can help identify enlarged lymph node(s) and other health problems A biopsy of affected tissue, often a lymph node, is usually recommended to confirm the diagnosis + GARD + Multicentric Castleman Disease
What are the treatments for Multicentric Castleman Disease ?
How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block the action of the interleukin-6 (IL-6), a protein that is produced in excess by the immune system of people with MCD Chemotherapy may be recommended to slow the growth of lymphatic cells Corticosteroid medications can reduce inflammation Anti-viral drugs can block the activity of HHV-8 or HIV (in people who are infected by these viruses) + GARD + Multicentric Castleman Disease
What is (are) Eosinophilic enteropathy ?
Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown.When eosinophils build up in the gastrointestinal tract, this begins to affect the body by causing polyps, tissue break down, inflammation, and ulcers. Eosinophilic enteropathy can occur in children or adults and is characterized by intolerance to some foods. Eosinophilic enteropathy can affect any part of the gastrointestinal tract, and is often named by the part affected: colon (colitis), esophagus (esophagitis), stomach (gastritis), or both the stomach and small intestine (gastroenteritis). + GARD + Eosinophilic enteropathy
What are the symptoms of Eosinophilic enteropathy ?
What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach cramps, bleeding, nausea, vomiting, loss of appetite, blood loss in stools, and choking. Symptoms can occur at any age, although they usually develop between ages 20 and 50 years. The symptoms of eosinophilic enteropathy overlap with other gastrointestinal disorders, such as ulcerative colitis, which makes diagnosis difficult. It is common for individuals with this disorder to have symptoms for many years before an accurate diagnosis is made. + GARD + Eosinophilic enteropathy
How to diagnose Eosinophilic enteropathy ?
How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number of eosinophils suggests the diagnosis of eosinophilic enteropathy. The pathologist will also look at the location of the eosinophils, changes in the tissue layers, and degranulation (spilling of the contents of the eosinophils). Eosinophils may be normally found in small numbers in all areas of the gastrointestinal tract except the esophagus. However, the number of eosinophils seen in individuals with eosinophilic enteropathy is much higher. Once the diagnosis of eosinophilic enteropathy is confirmed, food allergy testing is typically recommended to guide treatment. Tests for food allergies include skin prick testing, patch testing, and a Radioallergosorbent test (RAST). + GARD + Eosinophilic enteropathy
What are the treatments for Eosinophilic enteropathy ?
How might eosinophilic enteropathy be treated? There is no "cure" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medical problems the child or adult may have. In most cases, dietary restrictions and medications can significantly improve the problematic symptoms of this condition. Food allergy testing is used as a guide for restriction or elimination diets. An elimination diet means strictly avoiding all foods to which the patient has tested positive on allergy testing. Skin and patch testing are used to guide elimination diets. Sometimes a stricter diet, called an elemental diet, is needed. Skin and patch testing are used to guide elimination diets, but it only takes one false negative food for the diet to "fail". Elemental diets are diets that do not include whole or broken-down forms of protein. Instead, special elemental formulas are used, which are made of amino acids (the building blocks of proteins), fats, sugars, vitamins and minerals. Amino acids do not cause allergic reactions but whole or partial proteins can. Children and adults who rely in part, or completely, on an elemental amino acid based formula may have a difficult time drinking enough of the formula. To maintain proper nutrition, some require tube feedings directly into the stomach (enteral feeds). In the most severe cases, nutrition is administered directly into the blood stream (parenteral feeds). The American Partnership for Eosinophilic Disorders provides more information about treatment for eosinophilic enteropathy. This organization also provides more details on restricted or elimination diets and elemental diets. + GARD + Eosinophilic enteropathy
What are the symptoms of Pseudohypoparathyroidism type 2 ?
What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 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) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - 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 + Pseudohypoparathyroidism type 2
What is (are) Tylosis with esophageal cancer ?
Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. + GARD + Tylosis with esophageal cancer
What are the symptoms of Tylosis with esophageal cancer ?
What are the signs and symptoms of Tylosis with esophageal cancer? The main features of Tylosis with esophageal cancer are palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and the soles of the feet are usually more severely affected that the palms of the hands. Esophageal carcinoma usually develops in the lower two-thirds of the esophagus at an average age of 45 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Tylosis with esophageal cancer. 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 intestine 90% Esophageal neoplasm 90% Gastrointestinal hemorrhage 90% Nausea and vomiting 90% Palmoplantar keratoderma 90% Abnormality of the mediastinum 50% Ascites 50% Feeding difficulties in infancy 50% Hepatomegaly 50% Weight loss 50% Clubbing of toes 7.5% Vocal cord paresis 7.5% Abnormality of the mouth - Autosomal dominant inheritance - Diffuse palmoplantar hyperkeratosis - Esophageal carcinoma - Parakeratosis - 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 + Tylosis with esophageal cancer
What causes Tylosis with esophageal cancer ?
What causes Tylosis with esophageal cancer? Mutations in the RHBDF2 gene have been shown to cause the development of this condition. + GARD + Tylosis with esophageal cancer
Is Tylosis with esophageal cancer inherited ?
How is Tylosis with esophageal cancer inherited? This condition has an autosomal dominant pattern of inheritance, which means that a mutation in one copy of the altered gene in each cell is sufficient to cause the disorder. Affected individuals typically have one parent with the condition. + GARD + Tylosis with esophageal cancer
What are the treatments for Tylosis with esophageal cancer ?
How might Tylosis with esophageal cancer be treated? Affected individuals may have periodic endoscopic and oral cavity evaluations by a gastroentrologist to detect esophageal cancer. For the palmoplantar keratoderma, a dermatologist may recommend oral retinoids such as etretinate, isotretinoin, and acitretin. Topical therapies may include soaking in salt water and then gentle removal of dead tissue (debridement) and 50% propylene glycol in water under plastic dressing overnight weekly. + GARD + Tylosis with esophageal cancer