Druvith/medqa huggingface dataset:
How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ? 

What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon to send DNA samples to a laboratory in another state, or even to laboratories in Canada or Europe. Genetic tests are more complicated than standard blood tests and are usually much more expensive. Due to the high cost of these tests, insurance companies may or may not provide coverage. Doctors sometimes write a letter of medical necessity to the insurance company stating why a particular test is needed, which sometimes pursuades the insurance company to cover the test. These letters state the medical benefits that a person would receive from a test, and how the test would alter a person's medical care. GeneTests lists the names of laboratories that perform genetic testing. This resource lists the contact information for the clinical laboratories conducting genetic testing for MELAS. Another option is to participate in a research study that is performing genetic testing. While the cost of testing is often covered by the research funding, the tests may be more experimental and less accurate. In addition, results may not be reported to participants, or it may take a much longer time to receive any results. To access the contact information for the research laboratory performing genetic testing for mitochondrial disorders (including MELAS), click here.  Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
What are the symptoms of Dens in dente and palatal invaginations ? 

What are the signs and symptoms of Dens in dente and palatal invaginations? The Human Phenotype Ontology provides the following list of signs and symptoms for Dens in dente and palatal invaginations. 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 - Dens in dente - 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.
What are the symptoms of Bardet-Biedl syndrome 5 ? 

What are the signs and symptoms of Bardet-Biedl syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 5. 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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.
What is (are) Chiari malformation type 2 ? 

Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations.
What are the symptoms of Chiari malformation type 2 ? 

What are the signs and symptoms of Chiari malformation type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation type 2. 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) Agenesis of corpus callosum 33% Arnold-Chiari malformation - Ataxia - Bulbar signs - Cervical myelopathy - Cyanosis - Dysphagia - Feeding difficulties - Heterotopia - Hydrocephalus - Inspiratory stridor - Limb muscle weakness - Multifactorial inheritance - Muscular hypotonia - Nystagmus - Occipital neuralgia - Opisthotonus - Spina bifida - 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.
Is Chiari malformation type 2 inherited ? 

Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele.
What is (are) Hereditary elliptocytosis ? 

Hereditary elliptocytosis refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Affected individuals can also have an enlarged spleen. Treatment is usually not necessary unless severe anemia occurs. Surgery to remove the spleen may decrease the rate of red blood cell damage.
What are the symptoms of CODAS syndrome ? 

What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS 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 form of the vertebral bodies 90% Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cataract 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Malar flattening 90% Midline defect of the nose 90% Overfolded helix 90% Short nose 90% Short stature 90% Abnormality of the hip bone 50% Joint hypermobility 50% Muscular hypotonia 50% Ptosis 50% Scoliosis 50% Sensorineural hearing impairment 50% Abnormality of the upper urinary tract 7.5% Extrahepatic biliary duct atresia 7.5% Nystagmus 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Vocal cord paresis 7.5% Anal atresia 5% Cryptorchidism 5% Omphalocele 5% Proximal placement of thumb 5% Rectovaginal fistula 5% Seizures 5% Atria septal defect - Atrioventricular canal defect - Autosomal recessive inheritance - Broad skull - Congenital cataract - Congenital hip dislocation - Coronal cleft vertebrae - Delayed ossification of carpal bones - Genu valgum - Hypoplasia of dental enamel - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Metaphyseal dysplasia - Polyhydramnios - Short humerus - Short metacarpal - Short phalanx of finger - Squared iliac bones - 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.
What is (are) Lujan syndrome ? 

Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.
What are the symptoms of Lujan syndrome ? 

What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan 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) Abnormality of the palate 90% Abnormality of the voice 90% Cognitive impairment 90% Disproportionate tall stature 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Scoliosis 90% Aplasia/Hypoplasia of the corpus callosum 50% Arachnodactyly 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Macroorchidism 50% Narrow face 50% Pectus excavatum 50% Prominent nasal bridge 50% Short philtrum 50% Abnormality of calvarial morphology 7.5% Abnormality of the pinna 7.5% Abnormality of the teeth 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Hallucinations 7.5% Low-set, posteriorly rotated ears 7.5% Seizures 7.5% Abnormality of the genitourinary system - Abnormality of the rib cage - Abnormally folded helix - Agenesis of corpus callosum - Aggressive behavior - Ascending aortic aneurysm - Autism - Broad thumb - Deep philtrum - Dental crowding - Emotional lability - Flexion contracture - Frontal bossing - Generalized hypotonia - High palate - Hyperactivity - Hypoplasia of the maxilla - Impaired social interactions - Intellectual disability - Joint laxity - Long face - Long nose - Low frustration tolerance - Low-set ears - Narrow nasal bridge - Nasal speech - Obsessive-compulsive behavior - Open mouth - Prominent forehead - Psychosis - Ventricular septal defect - 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.
What is (are) Psoriatic juvenile idiopathic arthritis ? 

Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
What is (are) MYH-associated polyposis ? 

MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene.
What are the symptoms of MYH-associated polyposis ? 

What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. 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) Colon cancer 5/12 Adenomatous colonic polyposis - Autosomal 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.
What causes MYH-associated polyposis ? 

What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer.
What is (are) Chromosome 4p deletion ? 

Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 4p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
What is (are) Lactate dehydrogenase deficiency ? 

Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.
What are the symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis ? 

What are the signs and symptoms of Amaurosis congenita cone-rod type with congenital hypertrichosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amaurosis congenita cone-rod type with congenital hypertrichosis. 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 eyelashes 90% Coarse hair 90% Hypermetropia 90% Nystagmus 90% Optic atrophy 90% Photophobia 90% Synophrys 90% Thick eyebrow 90% Visual impairment 90% Autosomal recessive inheritance - Congenital visual impairment - Hirsutism - Retinal dystrophy - 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.
What causes Primary melanoma of the central nervous system ? 

What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.