sarnsrun/medquad huggingface dataset:
Topic: 2-methylbutyryl-CoA dehydrogenase deficiency
Question: What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ?
Answer: 2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body.  The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent.  Signs and symptoms of the disorder can begin a few days after birth or later in childhood.  The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability.
Source: GARD
Topic: 2-methylbutyryl-CoA dehydrogenase deficiency
Question: What are the symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency ?
Answer: What are the signs and symptoms of 2-methylbutyryl-CoA dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2-methylbutyryl-CoA dehydrogenase deficiency. 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) Apneic episodes in infancy - Autosomal recessive inheritance - Exotropia - Generalized amyotrophy - Hypoglycemia - Hypothermia - Infantile onset - Lethargy - Microcephaly - Motor delay - Muscular hypotonia - Seizures - 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: Exstrophy of the bladder
Question: What are the symptoms of Exstrophy of the bladder ?
Answer: What are the signs and symptoms of Exstrophy of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Exstrophy of the bladder. 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 female external genitalia 90% Displacement of the external urethral meatus 90% Exstrophy 90% Hypoplasia of penis 90% Umbilical hernia 90% Vesicoureteral reflux 90% Recurrent urinary tract infections 50% Bowel incontinence 7.5% Intestinal malrotation 7.5% Omphalocele 7.5% Abnormality of pelvic girdle bone morphology - Anteriorly placed anus - Autosomal dominant inheritance - Bladder exstrophy - Epispadias - Horseshoe kidney - Hydroureter - Inguinal hernia - Unilateral renal agenesis - 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: Long QT syndrome
Question: What is (are) Long QT syndrome ?
Answer: Long QT syndrome is a disorder of the hearts electrical activity that can cause sudden, uncontrollable, and irregular heartbeats (arrhythmia), which may lead to sudden death. Long QT syndrome can be detected by electrocardiogram (EKG). It can be caused by a variety of different gene mutations (changes). It can also be acquired (noninherited) and may be brought on by certain medicines and other medical conditions.
Source: GARD
Topic: Long QT syndrome
Question: What are the symptoms of Long QT syndrome ?
Answer: What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the National Heart Lung and Blood Institute's Web site by clicking here. The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT 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) Arrhythmia 90% Sensorineural hearing impairment 90% Abdominal situs inversus 7.5% Anemia 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: Long QT syndrome
Question: What causes Long QT syndrome ?
Answer: What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome.
Source: GARD
Topic: Long QT syndrome
Question: How to diagnose Long QT syndrome ?
Answer: How is long QT syndrome diagnosed? Long QT syndrome is diagnosed on the basis of electrocardiographic (EKG) findings, clinical findings such as congenital deafness or unexplained fainting, and family history of long QT syndrome or sudden cardiac death. Genetic testing is often performed in families in whom the diagnosis of long QT syndrome has been made or is suspected on clinical grounds.
Source: GARD
Topic: Central serous chorioretinopathy
Question: What is (are) Central serous chorioretinopathy ?
Answer: Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from the choroid (the blood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight lines and seeing objects as smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.
Source: GARD
Topic: Fanconi renotubular syndrome
Question: What is (are) Fanconi renotubular syndrome ?
Answer: Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body.  These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine.  Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age.  Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.
Source: GARD
Topic: Fanconi renotubular syndrome
Question: What are the symptoms of Fanconi renotubular syndrome ?
Answer: What are the signs and symptoms of Fanconi renotubular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi renotubular 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) Autosomal dominant inheritance - Glycosuria - Hypokalemia - Hypophosphatemia - Lacticaciduria - Muscle weakness - Osteomalacia - Proteinuria - Renal insufficiency - Renal tubular dysfunction - Rickets - Short stature - 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: 19p13.12 microdeletion syndrome
Question: What are the symptoms of 19p13.12 microdeletion syndrome ?
Answer: What are the signs and symptoms of 19p13.12 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 19p13.12 microdeletion 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% Neurological speech impairment 90% Anteverted nares 50% Arrhythmia 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Broad forehead 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Intrauterine growth retardation 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Microcephaly 50% Muscular hypotonia 50% Narrow nasal bridge 50% Reduced number of teeth 50% Scoliosis 50% Seizures 50% Sensorineural hearing impairment 50% Short neck 50% Synophrys 50% Thin vermilion border 50% Ventriculomegaly 50% Abnormality of lipid metabolism 7.5% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Deep palmar crease 7.5% Deep plantar creases 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Hepatic steatosis 7.5% Hypertelorism 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Myopia 7.5% Nystagmus 7.5% Obesity 7.5% Precocious puberty 7.5% Proptosis 7.5% Sandal gap 7.5% Self-injurious behavior 7.5% Strabismus 7.5% Tibial deviation of toes 7.5% Ventricular septal defect 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: Pretibial epidermolysis bullosa
Question: What is (are) Pretibial epidermolysis bullosa ?
Answer: Pretibial epidermolysis bullosa is a rare form of epidermolysis bullosa, a condition characterized by fragile skin that blisters easily in response to minor injury or friction. In the pretibial form, specifically, the characteristic blisters and skin erosions develop predominantly on the front of the lower legs (known as the "pretibial region"). In some affected people, the feet, hands and/or nails may also be affected. Healing of the blisters is generally associated with hypertrophic scarring. Pretibial epidermolysis bullosa is caused by changes (mutations) in the COL7A1 gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Pretibial epidermolysis bullosa
Question: What are the symptoms of Pretibial epidermolysis bullosa ?
Answer: What are the signs and symptoms of Pretibial epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Pretibial epidermolysis bullosa. 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% Abnormality of the fingernails 90% Abnormality of the toenails 90% Atypical scarring of skin 50% Pruritus 50% Hyperkeratosis 7.5% Lichenification 7.5% Autosomal dominant inheritance - Pretibial 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: Dihydropyrimidinase deficiency
Question: What are the symptoms of Dihydropyrimidinase deficiency ?
Answer: What are the signs and symptoms of Dihydropyrimidinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidinase deficiency. 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 pyramidal signs 5% Abnormal facial shape - Anal atresia - Autosomal recessive inheritance - Delayed speech and language development - Extrapyramidal dyskinesia - Feeding difficulties in infancy - Growth delay - Intellectual disability - Lethargy - Metabolic acidosis - Morphological abnormality of the pyramidal tract - Phenotypic variability - Plagiocephaly - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Short phalanx of finger - Somnolence - Talipes equinovarus - 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: Radio-ulnar synostosis type 1
Question: What are the symptoms of Radio-ulnar synostosis type 1 ?
Answer: What are the signs and symptoms of Radio-ulnar synostosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis 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) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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: Hemifacial microsomia
Question: What is (are) Hemifacial microsomia ?
Answer: Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person.
Source: GARD
Topic: Hemifacial microsomia
Question: What causes Hemifacial microsomia ?
Answer: What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested multiple possible risk factors for hemifacial microsomia. Environmental risk factors include the use of medications during pregnancy such as Accutane, pseudoephedrine, aspirin, or ibuprofen. Other environmental factors include second trimester bleeding, maternal diabetes, being pregnant with multiples, or the use of assisted reproductive technology. A genetic cause is found in some families, such as a chromosome disorder or a genetic syndrome. Some possible explanations when the cause of hemifacial microsomia is unknown include a very small chromosome deletion or duplication that is not detected, a mutation in an unknown gene, or changes in multiple genes associated with development of the face. It is also possible that a combination of genetic changes and environmental risk factors could cause hemifacial microsomia.
Source: GARD
Topic: Hemifacial microsomia
Question: Is Hemifacial microsomia inherited ?
Answer: Is hemifacial microsomia inherited? Hemifacial microsomia most often occurs in a single individual in a family and is not inherited. If the condition is caused by a chromosomal abnormality, it may be inherited from one affected parent or it may result from a new abnormality in the chromosome and occur in people with no history of the disorder in their family. In a very small number of cases, hemifacial microsomia is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The gene or genes involved in hemifacial microsomia are unknown. In some affected families, people seem to inherit an increased risk of developing hemifacial microsomia, not the condition itself. In these cases, some combination of genetic changes and environmental factors may be involved.
Source: GARD