Druvith/transformed_medDataset huggingface dataset:
Is Glutaric acidemia type I inherited ? 
 How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
How to diagnose Glutaric acidemia type I ? 
 Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
What are the symptoms of Spinal muscular atrophy with respiratory distress 1 ? 
 What are the signs and symptoms of Spinal muscular atrophy with respiratory distress 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy with respiratory distress 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 recessive inheritance - Camptodactyly of finger - Constipation - Decreased fetal movement - Decreased nerve conduction velocity - Degeneration of anterior horn cells - Denervation of the diaphragm - Diaphragmatic eventration - Diaphragmatic paralysis - Distal amyotrophy - Distal muscle weakness - EMG: neuropathic changes - Failure to thrive - Hyperhidrosis - Hyporeflexia - Inspiratory stridor - Intrauterine growth retardation - Limb muscle weakness - Peripheral axonal degeneration - Premature birth - Respiratory failure - Small for gestational age - Spinal muscular atrophy - Tachypnea - Talipes equinovarus - Urinary incontinence - Ventilator dependence with inability to wean - Weak cry - 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 Mental retardation Smith Fineman Myers type ? 
 What are the signs and symptoms of Mental retardation Smith Fineman Myers type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation Smith Fineman Myers type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Anteverted nares 90% Cognitive impairment 90% Depressed nasal bridge 90% Microcephaly 90% Narrow forehead 90% Short stature 90% Tented upper lip vermilion 90% Behavioral abnormality 50% Genu valgum 50% Neurological speech impairment 50% Obesity 50% Seizures 35% Abnormality of the hip bone 7.5% Camptodactyly of finger 7.5% Cryptorchidism 7.5% Low posterior hairline 7.5% Wide mouth 7.5% Abnormality of blood and blood-forming tissues - Brachydactyly syndrome - Coarse facial features - Constipation - Decreased testicular size - Delayed skeletal maturation - Dolichocephaly - Drooling - Epicanthus - Exotropia - Gastroesophageal reflux - High palate - Hyperactivity - Hyperreflexia - Hypertelorism - Hypogonadism - Hypoplasia of midface - Hypospadias - Infantile muscular hypotonia - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Lower limb hypertonia - Low-set ears - Macroglossia - Malar flattening - Micropenis - Microtia - Open mouth - Optic atrophy - Paroxysmal bursts of laughter - Pes planus - Phenotypic variability - Posteriorly rotated ears - Protruding tongue - Ptosis - Radial deviation of finger - Renal hypoplasia - Scrotal hypoplasia - Sensorineural hearing impairment - Short neck - Short upper lip - Slender finger - Talipes calcaneovalgus - Talipes equinovarus - Tapered finger - Thick lower lip vermilion - Triangular nasal tip - Upslanted palpebral fissure - U-Shaped upper lip vermilion - Vesicoureteral reflux - Vomiting - Wide nasal bridge - Widely-spaced maxillary central incisors - 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) Alopecia totalis ? 
 Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years.
What are the symptoms of Alopecia totalis ? 
 What are the signs and symptoms of Alopecia totalis? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia totalis. 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) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - 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) Hereditary fructose intolerance ? 
 Hereditary fructose intolerance (HFI) is a metabolic disease caused by the absence of an enzyme called aldolase B. In people with HFI, ingestion of fructose (fruit sugar) and sucrose (cane or beet sugar, table sugar) causes severe hypoglycemia (low blood sugar) and the build up of dangerous substances in the liver. HFI may be relatively mild or a very severe disease. The condition is caused by mutations in the ALDOB gene. It is inherited in an autosomal recessive pattern. Treatment involves eliminating fructose and sucrose from the diet. In the severe form, eliminating these sugars from the diet may not prevent progressive liver disease.
What are the symptoms of Hereditary fructose intolerance ? 
 What are the signs and symptoms of Hereditary fructose intolerance? The symptoms of HFI include: Poor feeding as a baby Irritability Increased or prolonged neonatal jaundice Vomiting Convulsions Excessive sleepiness Intolerance for fruits Avoidance of fruits and fructose/sucrose-containing foods Doing well after eating foods without fructose/sucrose The early symptoms of fructose intolerance may resemble those of galactosemia: irritability, jaundice, vomiting, convulsions and an enlarged liver and spleen. Later problems relate more to liver disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary fructose intolerance. 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) Abdominal pain - Autosomal recessive inheritance - Bicarbonaturia - Cirrhosis - Coma - Elevated hepatic transaminases - Failure to thrive - Fructose intolerance - Gastrointestinal hemorrhage - Glycosuria - Hepatic steatosis - Hepatomegaly - Hyperbilirubinemia - Hyperphosphaturia - Hyperuricemia - Hyperuricosuria - Hypoglycemia - Hypophosphatemia - Intellectual disability - Jaundice - Lactic acidosis - Lethargy - Malnutrition - Metabolic acidosis - Nausea - Proximal renal tubular acidosis - Proximal tubulopathy - Seizures - Transient aminoaciduria - Vomiting - 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 Hereditary fructose intolerance ? 
 What causes hereditary fructose intolerance (HFI)? HFI is caused by alterations (mutations) in the ALDOB gene. This gene provides instructions for making an enzyme called aldolase B. This enzyme is primarily found in the liver and is involved in the breakdown of fructose into energy. Mutations in the ALDOB gene reduce the function of the enzyme, impairing its ability to metabolize fructose. This causes a toxic buildup of fructose-1-phosphate in liver cells, which results in the death of liver cells over time.
Is Hereditary fructose intolerance inherited ? 
 How is hereditary fructose intolerance (HFI) inherited? HFI is inherited in an autosomal recessive manner, which means alterations (mutations) are present in both copies of the ALDOB gene. The parents of an individual with HFI each carry one copy of the mutated gene, but they typicaly do not show signs and symptoms of the condition.
What are the treatments for Hereditary fructose intolerance ? 
 How is hereditary fructose intolerance (HFI) treated? Complete elimination of fructose and sucrose from the diet is an effective treatment for most people, although this can be challenging. More information on treatment for HFI is available from the HFI Laboratory at Boston University at the following link. This page includes information on what people with HFI can and cannot eat. http://www.bu.edu/aldolase/HFI/treatment/ Additional information on foods to avoid if you have HFI is available from the Mayo clinic. http://www.mayoclinic.com/health/fructose-intolerance/AN01574
What is (are) Uncombable hair syndrome ? 
 Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood.
What are the symptoms of Uncombable hair syndrome ? 
 What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat.  In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement. The Human Phenotype Ontology provides the following list of signs and symptoms for Uncombable 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) Coarse hair 90% Hypopigmentation of hair 90% Woolly hair 90% Abnormal hair quantity 7.5% Autosomal dominant inheritance - Pili canaliculi - Uncombable 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.
What causes Uncombable hair syndrome ? 
 What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.
Is Uncombable hair syndrome inherited ? 
 Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.
How to diagnose Uncombable hair syndrome ? 
 How is uncombable hair syndrome diagnosed? A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces. People with concerns about symptoms of UHS are encouraged to speak with their dermatologist about being evaluated for this condition.
What are the treatments for Uncombable hair syndrome ? 
 How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. These strategies may improve the general manageability of the hair, although how well they work is subjective. Another strategy that has been suggested to improve the appearance of the hair is the use of biotin supplements. One case report suggested significant improvement in hair strength and combability, with an increase in rate of growth after 4 months of supplementation.
What are the symptoms of Small patella syndrome ? 
 What are the signs and symptoms of Small patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Small patella 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) Patellar aplasia 90% Abnormality of the hip bone 50% Autosomal dominant inheritance - Cleft palate - Flat capital femoral epiphysis - High palate - Hypoplasia of the lesser trochanter - Patellar dislocation - Patellar hypoplasia - Pes planus - Sandal gap - Wide capital femoral epiphyses - 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) Intrahepatic cholestasis of pregnancy ? 
 Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include severe itching (pruritus). Occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice). ICP is additionally associated with risks to the developing baby such as premature delivery and stillbirth. The cause of ICP is largely unknown, although approximately 15% of cases are caused by mutations in either the ABCB11 or ABCB4 genes. Mutations within the ABCB11 and ABCB4 genes are inherited in an autosomal dominant manner. Symptoms of ICP are typically limited to pregnancy. Bile flow returns to normal after delivery and the signs and symptoms of the condition disappear, however, they can return during later pregnancies.
What are the symptoms of Intrahepatic cholestasis of pregnancy ? 
 What are the signs and symptoms of Intrahepatic cholestasis of pregnancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrahepatic cholestasis of pregnancy. 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 liver function tests during pregnancy - Autosomal dominant inheritance - Increased serum bile acid concentration during pregnancy - Intrahepatic cholestasis - Premature birth - Pruritus - 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.