sarnsrun/medquad huggingface dataset:
Topic: Battaglia-Neri syndrome
Question: What are the symptoms of Battaglia-Neri syndrome ?
Answer: What are the signs and symptoms of Battaglia-Neri syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Battaglia-Neri 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) Coarse facial features 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypertrichosis 90% Microcephaly 90% Scoliosis 90% Seizures 90% Autosomal recessive inheritance - Hirsutism - 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: Ectodermal dysplasia, hidrotic, Christianson-Fourie type
Question: What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?
Answer: What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - 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: Dementia familial British
Question: What are the symptoms of Dementia familial British ?
Answer: What are the signs and symptoms of Dementia familial British? The Human Phenotype Ontology provides the following list of signs and symptoms for Dementia familial British. 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 - Cerebral amyloid angiopathy - Dementia - Hypertonia - Progressive neurologic deterioration - Rigidity - Spasticity - Tremor - 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: T-cell lymphoma 1A
Question: What are the symptoms of T-cell lymphoma 1A ?
Answer: What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. 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) Leukemia - T-cell lymphoma/leukemia - 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: Chancroid
Question: What is (are) Chancroid ?
Answer: Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more. About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery.
Source: GARD
Topic: Hennekam syndrome
Question: What is (are) Hennekam syndrome ?
Answer: Hennekam syndrome is a rare condition that affects the lymphatic system. Signs and symptoms of the condition are generally noticeable at birth and vary significantly from person to person, even within the same family. Affected people generally experience lymphangiectasia (lymphatic vessels that are abnormally expanded), lymphedema, and distinctive facial features (i.e. a flattened appearance to the middle of the face, puffy eyelids, widely spaced eyes, small ears, and a small mouth). Other common features include intellectual disability, growth delay, respiratory problems, camptodactyly (permanently bent fingers and toes) and cutaneous syndactyly (fusion of the skin between the fingers and toes). Hennekam syndrome is caused by changes (mutations) in the CCBE1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: GOSR2-related progressive myoclonus ataxia
Question: What are the symptoms of GOSR2-related progressive myoclonus ataxia ?
Answer: What are the signs and symptoms of GOSR2-related progressive myoclonus ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for GOSR2-related progressive myoclonus ataxia. 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) Absence seizures - Areflexia - Ataxia - Atonic seizures - Autosomal recessive inheritance - Difficulty walking - Dysarthria - Elevated serum creatine phosphokinase - Myoclonus - Progressive - Scoliosis - Tremor - 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: Von Willebrand disease
Question: What is (are) Von Willebrand disease ?
Answer: Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. Milder forms of Von Willebrand disease do not involve spontaneous bleeding, and the disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Symptoms may change over time. Increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns.
Source: GARD
Topic: Von Willebrand disease
Question: What are the symptoms of Von Willebrand disease ?
Answer: What are the signs and symptoms of Von Willebrand disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Von Willebrand 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) Aortic valve stenosis - Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Gastrointestinal angiodysplasia - Gastrointestinal hemorrhage - Impaired platelet aggregation - Incomplete penetrance - Joint hemorrhage - Menorrhagia - Mitral valve prolapse - Prolonged bleeding time - Prolonged whole-blood clotting time - Reduced factor VIII activity - 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: Von Willebrand disease
Question: What causes Von Willebrand disease ?
Answer: What causes von Willebrand disease? Von Willebrand disease is typically an inherited disease caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These mutations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected individual (known as a de novo mutation). Another form of the disorder, often considered a separate condition, is called acquired von Willebrand syndrome (AVWS). AVWS is not caused by gene mutations. This condition is typically seen in conjunction with other disorders and usually begins in adulthood. A list of disorders associated with AVWS is available from  UpToDate.
Source: GARD
Topic: Von Willebrand disease
Question: Is Von Willebrand disease inherited ?
Answer: Is von Willebrand disease always inherited from a parent? Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inherited in an autosomal recessive manner. Most individuals with an autosomal dominant type of VWD have an affected parent. However, some individuals are affected due to having a new (de novo) mutation in the VWF gene that occurred for the first time in the affected individual. If the mutation found in the affected individual cannot be detected in either parent, it is most often due to a de novo mutation but may also be due to germline mosaicism in a parent. Possible non-medical explanations which may be explored include alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption. There is also a separate, rare condition called acquired von Willebrand syndrome (AVWS). This is a mild to moderate bleeding disorder that is typically seen in conjunction with other disorders, such as diseases that affect bone marrow or immune cell function. AVWS is not caused by a mutation in the VWF gene and usually begins in adulthood.
Source: GARD
Topic: Familial episodic pain syndrome
Question: What are the symptoms of Familial episodic pain syndrome ?
Answer: What are the signs and symptoms of Familial episodic pain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial episodic pain 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) Adult onset - Autosomal dominant inheritance - Infantile onset - Pain - 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: Myoepithelial carcinoma
Question: What is (are) Myoepithelial carcinoma ?
Answer: Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients is reported to be 55 years.
Source: GARD
Topic: Myoepithelial carcinoma
Question: What are the treatments for Myoepithelial carcinoma ?
Answer: How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor.  Radiation therapy can be used to reduce the chance that the tumor could return in the same location.  Recent studies have shown that neutron-based radiation therapy may be more effective than proton-based radiation therapy for treating myoepithelial cancers. There is limited evidence about the usefulness of chemotherapy in treating metastatic myoepithelial cancer, and there are no standard treatment guidelines.  However, there are three reports of individuals with metastatic myoepithelial cancer who responded to chemotherapy.  In one individual, the metastatic tumors stopped growing during chemotherapy.  In the other two individuals, there was no evidence of the metastatic tumors after 14 months for one person and after three years for the other person.
Source: GARD
Topic: Epidermolysis bullosa simplex, Ogna type
Question: What are the symptoms of Epidermolysis bullosa simplex, Ogna type ?
Answer: What are the signs and symptoms of Epidermolysis bullosa simplex, Ogna type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Ogna type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Bruising susceptibility 90% Abnormality of the nail 50% Aplasia/Hypoplasia of the skin 50% Hyperkeratosis 50% Autosomal dominant inheritance - Onychogryposis of toenails - Skin fragility with non-scarring blistering - 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: Multiple self healing squamous epithelioma
Question: What are the symptoms of Multiple self healing squamous epithelioma ?
Answer: What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. 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 skin - Autosomal dominant inheritance - Neoplasm - Onset - 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: Dentin dysplasia, type 1
Question: What are the symptoms of Dentin dysplasia, type 1 ?
Answer: What are the signs and symptoms of Dentin dysplasia, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dentin dysplasia, type 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) Microdontia 5% Taurodontia 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Dentinogenesis imperfecta limited to primary teeth - Obliteration of the pulp chamber - Periapical radiolucency - 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: Filippi syndrome
Question: What is (are) Filippi syndrome ?
Answer: Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features can include undescended testicles in males, extra fingers (polydactyly), as well as teeth and hair abnormalities. So far, less than 25 cases have been reported in the medical literature. This condition is inherited in an autosomal recessive fashion. The exact underlying genetic cause is not known.
Source: GARD