Druvith/transformed_medDataset huggingface dataset:
What is (are) 47 XXX syndrome ? 
 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.
What are the symptoms of 47 XXX syndrome ? 
 What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum. The condition is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. Most females with the condition have normal sexual development and are able to conceive children. The Human Phenotype Ontology provides the following list of signs and symptoms for 47 XXX 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 chromosome segregation 90% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Epicanthus 50% Muscular hypotonia 50% Tall stature 50% Abnormality of the hip bone 7.5% Attention deficit hyperactivity disorder 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Multicystic kidney dysplasia 7.5% Pectus excavatum 7.5% Renal hypoplasia/aplasia 7.5% Secondary amenorrhea 7.5% Seizures 7.5% Tremor 7.5% Upslanted palpebral fissure 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.
Is 47 XXX syndrome inherited ? 
 Is 47 XXX syndrome inherited? Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in the early development of an embryo. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX). Transmission of an abnormal number of X chromosomes from women with 47 XXX syndrome is rare, although it has been reported. Some reports suggest a <5% increased risk for a chromosomally abnormal pregnancy, and other more recent reports suggest that <1% may be more accurate. These risks are separate from the risks of having a chromosomally abnormal pregnancy due to maternal age or any other factors. Furthermore, these risks generally apply only to women with non-mosaic 47 XXX syndrome, as mosaicism may increase the risk of passing on an abnormal number of X chromosomes and potential outcomes. Each individual with 47 XXX syndrome who is interested in learning about their own risks to have a child with a chromosome abnormality or other genetic abnormality should speak with their healthcare provider or a genetics professional.
How to diagnose 47 XXX syndrome ? 
 How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the presence of an extra X chromosome in body cells. 47 XXX syndrome may also be identified before birth (prenatally), based on chromosomal analysis performed on a sample taken during an amniocentesis or chorionic villus sampling (CVS) procedure. However, in these cases, confirmation testing with a test called FISH is recommended in order to evaluate the fetus for mosaicism (when only a percentage of the cells have the extra X chromosome).
What are the treatments for 47 XXX syndrome ? 
 How might 47 XXX syndrome be treated? There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. Early intervention services are typically recommended for infants and children that are diagnosed with the condition. Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. Some services that affected children may take part in include speech therapy, occupational therapy, physical therapy, and developmental therapy and counseling. It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.
What are the symptoms of Duodenal ulcer due to antral G-cell hyperfunction ? 
 What are the signs and symptoms of Duodenal ulcer due to antral G-cell hyperfunction? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal ulcer due to antral G-cell hyperfunction. 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 - Duodenal ulcer - Hyperpepsinogenemia I - 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 Short rib-polydactyly syndrome type 4 ? 
 What are the signs and symptoms of Short rib-polydactyly syndrome type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Short rib-polydactyly syndrome type 4. 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 pinna - Anencephaly - Ascites - Atelectasis - Autosomal recessive inheritance - Bowing of the arm - Bowing of the legs - Broad foot - Broad palm - Cystic renal dysplasia - Edema - Epicanthus - Flat face - Hamartoma of tongue - Hepatomegaly - High forehead - Holoprosencephaly - Horizontal ribs - Hydrocephalus - Hypertelorism - Hypoplastic nipples - Hypoplastic scapulae - Inguinal hernia - Intestinal malrotation - Intrauterine growth retardation - Limb undergrowth - Lobulated tongue - Low-set ears - Macrocephaly - Median cleft lip and palate - Narrow chest - Natal tooth - Neonatal death - Omphalocele - Patent ductus arteriosus - Patent foramen ovale - Periportal fibrosis - Polyhydramnios - Posteriorly rotated ears - Protuberant abdomen - Pulmonary hypoplasia - Renal hypoplasia - Respiratory insufficiency - Short finger - Short foot - Short long bone - Short neck - Short palm - Short ribs - Short thorax - Short toe - Splenomegaly - Thoracic dysplasia - Ventricular septal defect - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Pseudohypoparathyroidism type 2 ? 
 What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism 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) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - 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) Severe intellectual disability-progressive spastic diplegia syndrome ? 
 Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.
What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ? 
 What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia 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) Hypoplasia of the corpus callosum - Intellectual disability - Microcephaly - Muscular hypotonia - Spastic diplegia - 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) Alpha-thalassemia ? 
 Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.
What are the symptoms of Alpha-thalassemia ? 
 What are the signs and symptoms of Alpha-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. 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 heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - 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 Alpha-thalassemia inherited ? 
 How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the protein that results from these genes. For each of the 2 genes, one allele is inherited from a person's father, and the other is inherited from a person's mother - so each person inherits 2 alleles from each parent. The different types of alpha-thalassemia result from the loss of some or all of these alleles. If both parents are missing at least one alpha-globin allele, each of their children are at risk of having Hb Bart syndrome or hydrops fetalis, hemoglobin H (HbH) disease, or alpha-thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected. In most cases: a person with 1 mutated allele is a carrier and has no signs or symptoms a person with 2 mutated alleles may have mild signs or symptoms of alpha-thalassemia (called alpha-thalassemia minor, or alpha-thalassemia trait) a person with 3 mutated alleles has moderate to severe symptoms (called HbH disease) When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth.
What are the treatments for Alpha-thalassemia ? 
 How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin.  Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia.
What are the symptoms of Dermatoleukodystrophy ? 
 What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. 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% Hyperkeratosis 90% Morphological abnormality of the central nervous system 90% Hyperreflexia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Large hands - Leukodystrophy - Long foot - Macrotia - Premature skin wrinkling - Progeroid facial appearance - Prominent nose - Thickened skin - 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) Idiopathic thrombocytopenic purpura ? 
 Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.
What are the symptoms of Idiopathic thrombocytopenic purpura ? 
 What are the signs and symptoms of Idiopathic thrombocytopenic purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic thrombocytopenic purpura. 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 bleeding - Autosomal dominant inheritance - Platelet antibody positive - Thrombocytopenia - 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.