Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Pyruvate carboxylase deficiency ? 
 What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase 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) Autosomal recessive inheritance - Clonus - Congenital onset - Hepatomegaly - Hyperalaninemia - Hypoglycemia - Increased serum lactate - Increased serum pyruvate - Intellectual disability - Lactic acidosis - Muscular hypotonia - Neuronal loss in the cerebral cortex - Periventricular leukomalacia - Proximal renal tubular acidosis - 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.
Is Pyruvate carboxylase deficiency inherited ? 
 How is pyruvate carboxylase deficiency inherited? Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.
What is (are) Zellweger spectrum ? 
 Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.
What are the symptoms of Autosomal dominant deafness-onychodystrophy syndrome ? 
 What are the signs and symptoms of Autosomal dominant deafness-onychodystrophy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant deafness-onychodystrophy 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) Conical tooth 7.5% Selective tooth agenesis 7.5% Triphalangeal thumb 5% Anonychia - Autosomal dominant inheritance - Brachydactyly syndrome - Congenital onset - Hidrotic ectodermal dysplasia - Nail dystrophy - Sensorineural hearing impairment - Small nail - Toe 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) Congenitally corrected transposition of the great arteries ? 
 Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment.
What causes Congenitally corrected transposition of the great arteries ? 
 What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%.
What is (are) Acute alcohol sensitivity ? 
 Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
What are the symptoms of Acute alcohol sensitivity ? 
 What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . 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) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - 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 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism ? 
 What are the signs and symptoms of Retinitis pigmentosa, deafness, mental retardation, and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinitis pigmentosa, deafness, mental retardation, and hypogonadism. 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) Acanthosis nigricans 90% Cognitive impairment 90% Gynecomastia 90% Hyperinsulinemia 90% Nystagmus 90% Sensorineural hearing impairment 90% Short stature 90% Type II diabetes mellitus 90% Atypical scarring of skin 50% Brachydactyly syndrome 50% Broad foot 50% Cataract 50% Coarse facial features 50% Cryptorchidism 50% Delayed skeletal maturation 50% Dry skin 50% Obesity 50% Secondary amenorrhea 50% Short toe 50% Visual impairment 50% Cerebral cortical atrophy 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Polycystic ovaries 7.5% Abnormality of the ear - Autosomal recessive inheritance - Broad palm - Cerebellar atrophy - Cerebral atrophy - Elevated hepatic transaminases - Hypergonadotropic hypogonadism - Insulin-resistant diabetes mellitus - Intellectual disability - Pigmentary retinopathy - Rod-cone dystrophy - Sparse hair - Subcapsular cataract - 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) Charcot-Marie-Tooth disease ? 
 Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.
What are the symptoms of Charcot-Marie-Tooth disease ? 
 What are the signs and symptoms of Charcot-Marie-Tooth disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth 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 the pharynx 90% Abnormality of the voice 90% Decreased nerve conduction velocity 90% EMG abnormality 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Incoordination 90% Kyphosis 90% Laryngomalacia 90% Scoliosis 90% Skeletal muscle atrophy 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.
What is (are) De Barsy syndrome ? 
 De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system. The genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. Treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures.
What are the symptoms of De Barsy syndrome ? 
 What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy 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 fontanelles or cranial sutures 90% Cataract 90% Cognitive impairment 90% Cutis laxa 90% Hyperextensible skin 90% Hyperreflexia 90% Joint hypermobility 90% Muscular hypotonia 90% Opacification of the corneal stroma 90% Prematurely aged appearance 90% Short stature 90% Wide nasal bridge 90% Abnormality of adipose tissue 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Broad forehead 50% Macrotia 50% Abnormality of female external genitalia 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the hip bone 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Blue sclerae 7.5% Chorea 7.5% Flexion contracture 7.5% Genu recurvatum 7.5% Joint dislocation 7.5% Pectus excavatum 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Umbilical hernia 7.5% Cryptorchidism 5% Athetosis - Autosomal recessive inheritance - Brachycephaly - Congenital hip dislocation - Corneal arcus - Delayed skeletal maturation - Failure to thrive - Frontal bossing - Hypertelorism - Hypotelorism - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Large fontanelles - Low-set ears - Myopia - Narrow mouth - Narrow nasal ridge - Prominent forehead - Prominent superficial blood vessels - Seizures - Severe short stature - Sparse hair - Sporadic - Strabismus - Talipes equinovarus - Thin skin - Wide cranial sutures - Wormian 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) Sclerosing mucoepidermoid carcinoma with eosinophilia ? 
 Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well. Signs and symptoms include a painless neck mass. Many people with mucoepidermoid carcinomas are women with Hashimoto's thyroiditis. The prevalence of SMECE is unknown, but only around 50 cases have been described in the medical literature. SMECE most commonly presents between 40 to 75 years of age. SMECE was initially considered a "low-grade" tumor, however cases of SMECE spreading locally to lymph nodes and to distant organs have been described. While data is limited, with treatment it appears that prognosis is typically good.
What are the symptoms of Midphalangeal hair ? 
 What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. 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 hair - Autosomal dominant 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 are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ? 
 What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. 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) Absent scaphoid - Absent trapezium - Absent trapezoid bone - Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Cone-shaped epiphyses of the middle phalanges of the hand - Distal symphalangism (feet) - Distal symphalangism (hands) - Microdontia - Pulp stones - Short distal phalanx of finger - Short middle phalanx of finger - Short phalanx of finger - Small 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.
What are the symptoms of Cleft palate X-linked ? 
 What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. 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) Bifid uvula - Cleft palate - X-linked 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.