sarnsrun/medquad huggingface dataset:
Topic: Paroxysmal cold hemoglobinuria
Question: What are the symptoms of Paroxysmal cold hemoglobinuria ?
Answer: What are the signs and symptoms of Paroxysmal cold hemoglobinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal cold hemoglobinuria. 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 coagulation 90% Abnormality of temperature regulation 90% Abnormality of urine homeostasis 90% Arthralgia 90% Hemolytic anemia 90% Recurrent respiratory infections 90% Diarrhea 7.5% Migraine 7.5% Nausea and vomiting 7.5% 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.
Source: GARD
Topic: Dent disease 1
Question: What is (are) Dent disease 1 ?
Answer: Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcinosis), and kidney stones (nephrolithiasis). In many males with Dent disease, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD ia a failure of kidney function that occurs when the kidneys are no longer able to effectively filter fluids and waste products from the body. Disease severity can vary even among members of the same family. Dent disease type 1 is inherited in an X-linked recessive manner. Approximately 60% of individuals with Dent disease 1 have a mutation in the CLCN5 gene which is located on the X chromosome. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, proteinuria.
Source: GARD
Topic: Dent disease 1
Question: What are the symptoms of Dent disease 1 ?
Answer: What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 1. 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) Aminoaciduria - Bone pain - Bowing of the legs - Bulging epiphyses - Chronic kidney disease - Delayed epiphyseal ossification - Enlargement of the ankles - Enlargement of the wrists - Femoral bowing - Fibular bowing - Glycosuria - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Increased serum 1,25-dihydroxyvitamin D3 - Low-molecular-weight proteinuria - Metaphyseal irregularity - Microscopic hematuria - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Phenotypic variability - Proximal tubulopathy - Recurrent fractures - Renal phosphate wasting - Rickets - Short stature - Sparse bone trabeculae - Thin bony cortex - Tibial bowing - X-linked recessive 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.
Source: GARD
Topic: Palmoplantar keratoderma
Question: What is (are) Palmoplantar keratoderma ?
Answer: Palmoplantar keratoderma (PPK) is a group of conditions characterized by thickening of the palms and soles of the feet. PPK can also be an associated feature of different syndromes. In rare forms of palmoplantar keratoderma, other organs in the body may be affected in addition to the skin. PPK can either be inherited or acquired. Acquired palmoplantar keratodermas may arise as a result of infections, internal disease or cancer, inflammatory skin conditions, or medications. The hereditary palmoplantar keratodermas are caused by a gene abnormality that results in abnormal skin protein (keratin). They can be inherited in an autosomal dominant or autosomal recessive patterns.
Source: GARD
Topic: Palmoplantar keratoderma
Question: What are the treatments for Palmoplantar keratoderma ?
Answer: How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. Treatment may include simple measures such as saltwater soaks, emollients, and paring. More aggressive treatment includes topical keratolytics, topical retinoids, systemic retinoids (acitretin), topical vitamin D ointment (calcipotriol), or surgery to removed the skin, following by skin grafting.
Source: GARD
Topic: CDKL5-related disorder
Question: What is (are) CDKL5-related disorder ?
Answer: A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic. In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism. However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions.
Source: GARD
Topic: Perniosis
Question: What is (are) Perniosis ?
Answer: Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occur hours after cold exposure. Risk factors for perniosis include having poor blood circulation (such as due to diabetes or smoking), a family history of perniosis, poor nutrition, and low body weight. Perniosis may occur alone or in association with an autoimmune condition (e.g., lupus, scleroderma), bone marrow disorder, or cancer. Treatment aims to relieve symptoms and prevent infection. Lifestyle/adaptive changes may also be recommended to prevent future symptoms.
Source: GARD
Topic: Dicarboxylic aminoaciduria
Question: What is (are) Dicarboxylic aminoaciduria ?
Answer: Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.
Source: GARD
Topic: Dicarboxylic aminoaciduria
Question: What are the symptoms of Dicarboxylic aminoaciduria ?
Answer: What are the signs and symptoms of Dicarboxylic aminoaciduria? There are no common signs or symptoms of dicarboxylic aminoaciduria. Hypoglycemia, developmental and neurological abnormalities, and obsessive compulsive tendencies were described in individual cases. Others that have been diagnosed had virtually no signs or symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Dicarboxylic aminoaciduria. 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) Aminoaciduria - Autosomal recessive inheritance - Fasting hypoglycemia - Intellectual disability - 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.
Source: GARD
Topic: Lemierre syndrome
Question: What is (are) Lemierre syndrome ?
Answer: Lemierre syndrome is a rare and potentially life-threatening illness. The bacterium responsible for this disease is typically Fusobacterium necrophorum, although a wide variety of bacteria have been reported as causing the disease.  The bacterial infection begins in the oropharynx then spreads through the lymphatic vessels. Following this primary infection, thrombophlebitis of the internal jugular vein (IJV) develops. The final phase of the disease occurs when septic emboli (pus-containing tissue) migrate from their original location in the body to various organs. The lungs are most commonly involved, however other sites may include the joints, muscle, skin and soft tissue, liver, and spleen.  The symptoms of Lemierre syndrome include fever, sore throat, neck swelling, pulmonary involvement and joint pain. It is an uncommon disease that occurs in about one person per million per year. The disease primarily affects healthy young people before age 40. Diagnosis of Lemierre syndrome rests on the presence of a blood clot (or clots) in the IJV and blood cultures that show the presence of Fusobacterium necrophorum. Intravenous antibiotics are the mainstay of treatment.
Source: GARD
Topic: Lemierre syndrome
Question: What are the symptoms of Lemierre syndrome ?
Answer: What are the symptoms reported in children who have Lemierre syndrome? In children and adolescents, Lemierre syndrome usually begins with a severe sore throat, persistent fever, and possibly chills. Some cases begin with acute otitis media. As the syndrome progresses, there is neck pain and tender swelling along the internal jugular vein.[ If undiagnosed, the next stage is the "metastasis" of septic emboli to the lungs, abdominal organs, brain or heart. Lung involvement typically results in a productive cough (a cough that brings up mucus or phlegm) and chest pain. Girls may report abdominal pain and have enlargement of the liver (hepatomegaly) and jaundice, all of which indicate involvement of the liver.
Source: GARD
Topic: Lemierre syndrome
Question: What causes Lemierre syndrome ?
Answer: What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes.
Source: GARD
Topic: Lemierre syndrome
Question: How to diagnose Lemierre syndrome ?
Answer: How is Lemierre syndrome diagnosed? After performing blood cultures and complete blood counts, contrast computed tomography (CT) of the neck provides the definitive diagnosis. Ultrasound can also confirm internal jugular vein thrombosis.
Source: GARD
Topic: Lemierre syndrome
Question: What are the treatments for Lemierre syndrome ?
Answer: How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. Surgery of the internal jugular vein may be required only in the rare patient who fails to respond to antibiotic treatment alone.
Source: GARD
Topic: Pityriasis lichenoides
Question: What is (are) Pityriasis lichenoides ?
Answer: Pityriasis lichenoides is a skin disorder of unknown cause.  There are two types of pityriasis lichenoides; a more severe form with a sudden onset that tends to be short-lived (acute) which is usually found in children, known as pityriasis lichenoides et varioliformis acuta and a more mild but long-lasting (chronic) form known as pityriasis lichenoides chronica. Pityriasis lichenoides chronica may clear up in a few weeks or persist for years.
Source: GARD
Topic: Pityriasis lichenoides
Question: What are the treatments for Pityriasis lichenoides ?
Answer: What treatment is available for pityriasis lichenoides? The different forms of treatment for pityriasis lichenoides that have been used range from natural sunlight exposure to chemotherapeutic agents. Treatment may not be necessary if the rash is not causing symptoms. When itching is severe, topical corticosteroids, tar preparations, and antihistamines may provide relief without changing the course of the disease. In adult patients, administration of methotrexate and oral tetracycline has led to good results; however, these medications are inappropriate for first-line treatment in young children. In addition to tetracycline, erythromycin is another antibiotic that is commonly used to treat pityriasis lichenoides. Sunlight is helpful, and excellent therapeutic responses to UVB phototherapy are documented. UVB therapy is more difficult in young children, and there is little data regarding the long-term risks of phototherapy in the pediatric population. It is difficult to interpret the results of formal therapy evaluations because of the frequency of spontaneous remissions.
Source: GARD
Topic: Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
Question: What are the symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism ?
Answer: What are the signs and symptoms of Mental retardation, macrocephaly, short stature and craniofacial dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, macrocephaly, short stature and craniofacial dysmorphism. 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) Astigmatism 5% Myopia 5% Patellar subluxation 5% Psychosis 5% Abnormality of the musculature - Adrenal medullary hypoplasia - Broad forehead - Coarse facial features - Delayed speech and language development - Dolichocephaly - Intellectual disability - Macrocephaly - Mandibular prognathia - Megalencephaly - Optic atrophy - Pointed chin - 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.
Source: GARD
Topic: Androgen insensitivity syndrome
Question: What is (are) Androgen insensitivity syndrome ?
Answer: Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.
Source: GARD
Topic: Androgen insensitivity syndrome
Question: What are the symptoms of Androgen insensitivity syndrome ?
Answer: What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity 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) Abnormal hair quantity 90% Abnormality of female internal genitalia 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Hernia of the abdominal wall 50% Testicular neoplasm 7.5% Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive 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.
Source: GARD
Topic: Ascher Syndrome
Question: What is (are) Ascher Syndrome ?
Answer: Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity. Treatment may include surgical excision of the double lip and/or surgery for eyelid edema.
Source: GARD
Topic: Ascher Syndrome
Question: What are the symptoms of Ascher Syndrome ?
Answer: What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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) Blepharophimosis 90% Goiter 50% Hypothyroidism 50% Ptosis 50% Visual impairment 50% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Deviation of finger 7.5% Hypertelorism 7.5% Abnormality of the eye - Abnormality of the mouth - Autosomal dominant inheritance - Blepharochalasis - 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.
Source: GARD
Topic: Ulnar hypoplasia lobster claw deformity of feet
Question: What are the symptoms of Ulnar hypoplasia lobster claw deformity of feet ?
Answer: What are the signs and symptoms of Ulnar hypoplasia lobster claw deformity of feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar hypoplasia lobster claw deformity of feet. 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) Aplasia/Hypoplasia of the radius 90% Split hand 90% Hypoplasia of the ulna - Short finger - Split foot - 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.
Source: GARD