Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of L1 syndrome ?
Answer: What are the signs and symptoms of L1 syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for L1 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) Aqueductal stenosis 90% Behavioral abnormality 90% Cognitive impairment 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hydrocephalus 90% Hyperreflexia 90% Hypertonia 90% Migraine 90% Nausea and vomiting 90% Neurological speech impairment 90% Adducted thumb 50% Aganglionic megacolon 7.5% Seizures 7.5% Skeletal muscle atrophy 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.
Question:  What is (are) Erdheim-Chester disease ?
Answer: Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.
Question:  What are the symptoms of Erdheim-Chester disease ?
Answer: What are the signs and symptoms of Erdheim-Chester disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Erdheim-Chester 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) Abnormality of epiphysis morphology 90% Abnormality of temperature regulation 90% Abnormality of the genital system 90% Abnormality of the metaphyses 90% Bone pain 90% Diabetes insipidus 90% Hyperhidrosis 90% Increased bone mineral density 90% Multiple lipomas 90% Osteolysis 90% Osteomyelitis 90% Proptosis 90% Weight loss 90% Abdominal pain 50% Abnormality of the aortic valve 50% Joint swelling 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aseptic necrosis 7.5% Congestive heart failure 7.5% Hyperreflexia 7.5% Incoordination 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Ptosis 7.5% Pulmonary fibrosis 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Skin rash 7.5% Visual impairment 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.
Question:  What causes Erdheim-Chester disease ?
Answer: What causes Erdheim-Chester disease? The specific underlying cause of Erdheim-Chester disease is not known. It is not currently categorized as a cancer, infection or autoimmune disease. It it not believed to be contagious or genetic in nature.
Question:  What are the symptoms of Familial eosinophilia ?
Answer: What are the signs and symptoms of Familial eosinophilia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial eosinophilia. 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 - Eosinophilia - 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) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern.
Question:  What are the symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
Answer: What are the signs and symptoms of Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. 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 5% Abnormality of extrapyramidal motor function - Alopecia - Arteriosclerosis of small cerebral arteries - Ataxia - Autosomal recessive inheritance - Babinski sign - Dementia - Diffuse demyelination of the cerebral white matter - Diffuse white matter abnormalities - Dysarthria - Gait disturbance - Hyperreflexia - Low back pain - Progressive encephalopathy - Pseudobulbar signs - Rigidity - Spasticity - Urinary incontinence - 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 Familial colorectal cancer ?
Answer: What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal 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) Hereditary nonpolyposis colorectal carcinoma - Neoplasm of the stomach - Renal cell carcinoma - Transitional cell carcinoma of the bladder - Uterine leiomyosarcoma - 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) Goldberg-Shprintzen megacolon syndrome ?
Answer: Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.
Question:  What are the symptoms of Goldberg-Shprintzen megacolon syndrome ?
Answer: What are the signs and symptoms of Goldberg-Shprintzen megacolon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Goldberg-Shprintzen megacolon 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) Aganglionic megacolon 90% Cleft palate 90% Cognitive impairment 90% Microcephaly 90% Short stature 90% Iris coloboma 50% Muscular hypotonia 50% Ptosis 50% Abnormal hair quantity 7.5% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Macrotia 7.5% Pointed chin 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Wide nasal bridge 7.5% Autosomal recessive inheritance - Blue sclerae - Bulbous nose - Clinodactyly - Corneal erosion - Corneal ulceration - Highly arched eyebrow - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the maxilla - Intellectual disability - Low-set ears - Megalocornea - Pachygyria - Polymicrogyria - Prominent nasal bridge - Short neck - Short philtrum - Small hand - Sparse hair - Synophrys - Tapered finger - Telecanthus - Thick eyebrow - Thick vermilion border - Wide intermamillary distance - 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 Blepharoptosis myopia ectopia lentis ?
Answer: What are the signs and symptoms of Blepharoptosis myopia ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Blepharoptosis myopia ectopia lentis. 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) Ectopia lentis 90% Glaucoma 90% Myopia 90% Abnormality of the fingernails 50% Palpebral edema 50% Abnormality of retinal pigmentation 7.5% Abnormality of the helix 7.5% Iris coloboma 7.5% Prominent occiput 7.5% Autosomal dominant inheritance - Congenital ptosis - Increased axial globe length - 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) Beriberi ?
Answer: Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases, beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth.
Question:  What are the symptoms of Loose anagen hair syndrome ?
Answer: What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair 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 whorl 90% Abnormality of hair texture 90% Iris coloboma 50% Childhood onset - Fair hair - Juvenile onset - Sparse 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.
Question:  What is (are) Fetal cystic hygroma ?
Answer: Fetal cystic hygroma is a congenital malformation of the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are single or multiple cysts found mostly in the neck region. In the fetus, a cystic hygroma can progress to hydrops (an excess amount of fluid in the body) and eventually lead to fetal death. Some cases resolve leading to webbed neck, edema (swelling), and a lymphangioma (a benign yellowish-tan tumor on the skin composed of swollen lymph vessels). In other instances, the hygroma can progress in size to become larger than the fetus. Cystic hygromas can be classified as septated (multiloculated) or nonseptated (simple). Cystic hygromas can occur as an isolated finding or in association with other birth defects as part of a syndrome (chromosomal abnormalities or syndromes caused by gene mutations). They may result from environmental factors (maternal virus infection or alcohol abuse during pregnancy), genetic factors, or unknown factors. The majority of prenatally diagnosed cystic hygromas are associated with Turner syndrome or other chromosomal abnormalities like trisomy 21. Isolated cystic hygroma can be inherited as an autosomal recessive disorder. Fetal cystic hygroma have being treated with OK-432, a lyophilized mixture of Group A Streptococcus pyogenes and benzyl penicillin, and with serial thoracocentesis plus paracentesis.
Question:  What are the symptoms of Fetal cystic hygroma ?
Answer: What are the signs and symptoms of Fetal cystic hygroma? The Human Phenotype Ontology provides the following list of signs and symptoms for Fetal cystic hygroma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Fetal cystic hygroma - Hydrops fetalis - 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 Al Gazali Sabrinathan Nair syndrome ?
Answer: What are the signs and symptoms of Al Gazali Sabrinathan Nair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Al Gazali Sabrinathan Nair 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) Cognitive impairment 90% Optic atrophy 90% Recurrent fractures 90% Seizures 90% Wormian bones 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Immunodeficiency with hyper IgM type 1 ?
Answer: Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a persons immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency cant get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning they are passed down from parents to children. Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the gene mutation involved.