sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Non 24 hour sleep wake disorder ?

Answer:
What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. 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) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% 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.
Question:
What is (are) Erythromelalgia ?

Answer:
Erythromelalgia (EM) is a rare condition characterized by episodes of burning pain, warmth, swelling and redness in parts of the body, particularly the hands and feet. This condition may occur spontaneously (primary EM) or secondary to neurological diseases, autoimmune diseases, or myeloproliferative disorders (secondary EM). Episodes may be triggered by increased body temperature, alcohol, and eating spicy foods. About 15% of cases are caused by mutations in the SCN9A gene and are inherited in an autosomal dominant manner. Other cases may be caused by unidentified genes or by non-genetic factors. Treatment depends on the underlying cause and may include topical and/or oral medications. In some cases, the condition goes away without treatment.
Question:
What are the symptoms of Erythromelalgia ?

Answer:
What are the signs and symptoms of Erythromelalgia? Currently it is very difficult to predict how a person's primary erythromelalgia will affect them overtime. The cause of primary erythromelalgia is not well understood. Much of the literature regarding the long term outlook for people with idiopathic primary erythromelalgia is compiled from individual case reports. Erythromelalgia is usually a chronic or persistent condition, however there have been cases that have fully resolved with time. Many people with primary erythromelalgia have stable symptoms, however cases of progressive disease (symptoms worsening overtime) have also been described. Pain is a characteristic/classic feature of primary erythromelalgia. Unfortunately we were not able to find information specific to painless cases of this disorder, and outcomes of these individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Erythromelalgia. 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) Dysautonomia 5% Abnormality of the musculature - Autosomal dominant inheritance - Blurred vision - Constipation - Diarrhea - Hyperhidrosis - Juvenile onset - Myalgia - Pain - Palpitations - Xerostomia - 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.
Question:
What causes Erythromelalgia ?

Answer:
What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.
Question:
How to diagnose Erythromelalgia ?

Answer:
How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.
Question:
What are the treatments for Erythromelalgia ?

Answer:
What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups.
Question:
What is (are) Gigantomastia ?

Answer:
Gigantomastia is a rare condition that is characterized by excessive breast growth that may occur spontaneously, during puberty or pregnancy, or while taking certain medications. To date, there is no universally accepted definition for gigantomastia; however, Dancey et al. (2007) state that a review of the medical literature suggests that definitions range from a D-cup bra size to breast enlargement requiring reduction of over 0.8 - 2 kg, which is equivalent to about 1.75 - 4.5 pounds. The exact cause of gigantomastia has not been determined. Nonetheless, the following theories have been proposed to explain gigantomastia: (1) end-organ hypersensitivity (a condition in which the breast tissue is more sensitive to hormones circulating in the body), (2) autoimmune issues, (3) high IGF-1 (insulin growth factor-1, a hormone involved in regulating bone growth) and (4) hyperprolactanemia (high levels of prolactin). Gigantomastia has been noted as a side effect of treatment with certain medications like D-pencillamine and in one case as an apparently hereditary condition. Symptoms of gigantomastic may include mastalgia (breast pain), ulceration/infection, posture problems, back pain and chronic traction injury to 4th/5th/6th intercostal nerves with resultant loss of nipple sensation. It is may also associated with decreased fetal growth, if the gigantomastia is present during pregnancy. Treatment is based on the person's symptoms and may include breast reduction, mastectomy with or without reconstruction, hormonal treatment, or a combination of treatments.
Question:
What are the treatments for Gigantomastia ?

Answer:
What treatment might be available for someone who has had recurrence of gigantomastia following a breast reduction? Breast reduction with or without hormonal therapy is often the first line of treatment for women who have gigantomastia. However, recurrence of gigantomastia may occur, requiring a second breast reduction procedure or mastectomy. Mastectomy might be recommended following recurrence of gigantomastia after breast reduction, especially in those patients who have  gigantomastia associated with puberty or pregnancy.  It is important to discuss this information with a health care provider in order to determine what treatment might be appropriate.
Question:
What is (are) Pili torti ?

Answer:
Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals. Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth. There is no specific treatment for this condition, but it may improve spontaneously after puberty. Click here to visit Medscape and view an image of a child with pili torti.
Question:
What are the symptoms of Pili torti ?

Answer:
What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. 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) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - 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.
Question:
What are the treatments for Pili torti ?

Answer:
Are there new therapies for treatment of pili torti? In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet). There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory. It is generally recommended that people with pili torti try to avoid trauma to the hair. Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible. Some individuals with pili torti choose to wear a wig.
Question:
What are the symptoms of Pyknoachondrogenesis ?

Answer:
What are the signs and symptoms of Pyknoachondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyknoachondrogenesis. 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 vertebral ossification 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the mouth 90% Abnormality of the sacrum 90% Depressed nasal ridge 90% Enlarged thorax 90% Increased bone mineral density 90% Low-set, posteriorly rotated ears 90% Macrocephaly 90% Micromelia 90% Palpebral edema 90% Premature birth 90% Short stature 90% Short thorax 90% Thickened nuchal skin fold 90% Autosomal recessive inheritance - Stillbirth - 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.
Question:
What are the symptoms of Thrombocytopenia with elevated serum IgA and renal disease ?

Answer:
What are the signs and symptoms of Thrombocytopenia with elevated serum IgA and renal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombocytopenia with elevated serum IgA and renal disease. 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 bleeding - Glomerulonephritis - Hematuria - Increased IgA level - Thrombocytopenia - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What are the symptoms of Merlob Grunebaum Reisner syndrome ?

Answer:
What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner 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) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - 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.
Question:
What is (are) Dendritic cell tumor ?

Answer:
A dendritic cell tumor develops from the cells of the immune system.  This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize).  There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise.  The symptoms and severity of the condition depend on the subtype and location of the tumor.  Treatment may include surgery, radiation therapy, and/or chemotherapy.
Question:
What is (are) Medullary cystic kidney disease ?

Answer:
Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure.
Question:
What are the symptoms of Medullary cystic kidney disease ?

Answer:
What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. 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) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Multiple small medullary renal cysts - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - 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.
Question:
What causes Medullary cystic kidney disease ?

Answer:
What causes medullary cystic kidney disease? There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. Exposure to seizure medication is not a known cause medullary cystic kidney disease.
Question:
Is Medullary cystic kidney disease inherited ?

Answer:
How is medullary cystic kidney disease inherited? The 2 types of MCKD are both inherited in an autosomal dominant manner. This means that any individual with the condition has a 50% chance of passing on the disease causing mutation to any of their children.