Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Histidinuria renal tubular defect ? 
 What are the signs and symptoms of Histidinuria renal tubular defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinuria renal tubular defect. 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) Aminoaciduria 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypoglycemia 90% Hypoplastic toenails 90% Long philtrum 90% Macrotia 90% Sensorineural hearing impairment 90% Ventriculomegaly 90% Wide nasal bridge 90% Autosomal recessive inheritance - Generalized myoclonic seizures - Histidinuria - Impaired histidine renal tubular absorption - Intellectual disability - Rounded middle phalanx of finger - Short middle phalanx of finger - Smooth philtrum - 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) Epithelioid sarcoma ? 
 Epithelioid sarcoma is a rare cancer that most often occurs in the soft tissue of the fingers, hands and forearms of young adults.  It may also be found in the legs, trunk, head or neck regions.  It is rare in young children and adults, and it occurs more frequently in men.  Epithelioid sarcoma begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth.  It is considered an aggressive cancer because it has a high chance of regrowing after treatment (a recurrence), or spreading to surrounding tissues or more distant parts of the body (a metastasis).  Epithelioid sarcoma is first treated with surgery to remove all the cancer cells (wide local excision).  Amputation of part of the affected limb may be needed in severe cases.  Radiation therapy or chemotherapy may also be used to destroy any cancer cells not removed during surgery.
What are the symptoms of Salcedo syndrome ? 
 What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo 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) Glomerulopathy 90% Hematuria 90% Hypertension 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Abnormality of the skeletal system - Autosomal recessive inheritance - Nephropathy - 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) Selective IgM deficiency ? 
 Selective IgM deficiency or "Selective Immunoglobulin M deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteremia. The disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of IgM, normal levels of other immunoglobulins and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes the isolated deficiency of IgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested to have pneumococcal and meningococcal vaccines, prophylactic antibiotics to patients who have recurrent infections and immune globulin replacement.
What is (are) Dent disease 1 ? 
 Dent disease type 1 is a kidney disease seen mostly in males. The most frequent sign of Dent disease is the presence of an abnormally large amount of protein in the urine (proteinuria). Other common signs of the disorder include excess calcium in the urine (hypercalciuria), calcium deposits in the kidney (nephrocalcinosis), and kidney stones (nephrolithiasis). In many males with Dent disease, progressive kidney problems lead to end-stage renal disease (ESRD) in early to mid-adulthood. ESRD ia a failure of kidney function that occurs when the kidneys are no longer able to effectively filter fluids and waste products from the body. Disease severity can vary even among members of the same family. Dent disease type 1 is inherited in an X-linked recessive manner. Approximately 60% of individuals with Dent disease 1 have a mutation in the CLCN5 gene which is located on the X chromosome. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, proteinuria.
What are the symptoms of Dent disease 1 ? 
 What are the signs and symptoms of Dent disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dent disease 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) Aminoaciduria - Bone pain - Bowing of the legs - Bulging epiphyses - Chronic kidney disease - Delayed epiphyseal ossification - Enlargement of the ankles - Enlargement of the wrists - Femoral bowing - Fibular bowing - Glycosuria - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Increased serum 1,25-dihydroxyvitamin D3 - Low-molecular-weight proteinuria - Metaphyseal irregularity - Microscopic hematuria - Nephrocalcinosis - Nephrolithiasis - Osteomalacia - Phenotypic variability - Proximal tubulopathy - Recurrent fractures - Renal phosphate wasting - Rickets - Short stature - Sparse bone trabeculae - Thin bony cortex - Tibial bowing - 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) 47, XYY syndrome ? 
 47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligence are usually normal, but learning disabilities may be present. Other signs and symptoms may include autism spectrum disorder (usually on the milder end); speech or motor delay; low muscle tone; asthma; tall stature; impaired social skills; ADHD; and/or anxiety or mood disorders. While sexual development and infertility is usually normal, some adolescents and adults have testicular failure. 47, XYY syndrome usually is not inherited, occurring due to a random event in the formation of a sperm cell prior to conception. Management depends on the symptoms in each person and may include intervention or therapies for developmental delays, behavior or mood disorders; and/or special education.
What causes 47, XYY syndrome ? 
 What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chromosomes do not separate when sperm cells are being made. If two Y chromosomes are present in a sperm that fertilizes an egg (with an X chromosome), the resulting embryo will be a male with an extra Y chromosome. It is also possible that a similar random event could occur very early in an embryo's development. It is not fully understood why an extra copy of the Y chromosome leads to an increased risk for the features associated with 47, XYY syndrome in some males. Importantly, there is nothing either parent can do (or not do) to cause or prevent 47, XYY syndrome.
Is 47, XYY syndrome inherited ? 
 Is 47, XYY syndrome inherited? 47, XYY syndrome is usually not inherited. It is typically due to a random event during the formation of a sperm cell. Recurrence of 47, XYY syndrome in a family is rare. The recurrence risk for siblings and other family members is not thought to be increased. Additionally, men with 47, XYY are not reported to have an increased risk for a child with a chromosome variation. People with personal questions about recurrence risks are encouraged to speak with a genetic counselor or other genetic professional.
What are the symptoms of Fryns Hofkens Fabry syndrome ? 
 What are the signs and symptoms of Fryns Hofkens Fabry syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fryns Hofkens Fabry 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) Ulnar deviation of finger 90% Autosomal dominant inheritance - Distal ulnar hypoplasia - Dysplastic radii - Hypoplasia of the radius - Mesomelic arm shortening - Radial bowing - Ulnar deviation of the hand - 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 Thymic-Renal-Anal-Lung dysplasia ? 
 What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung dysplasia. 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 lung lobation 90% Abnormality of female internal genitalia 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the thymus 90% Hypoplasia of the ear cartilage 90% Hypoplastic toenails 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Urogenital fistula 90% Abnormality of metabolism/homeostasis - Abnormality of the endocrine system - Abnormality of the respiratory system - Anal atresia - Autosomal recessive inheritance - Renal agenesis - Ureteral agenesis - Ureteral dysgenesis - 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 Prieto X-linked mental retardation syndrome ? 
 What are the signs and symptoms of Prieto X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation 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 nose 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Gait disturbance 90% Low-set, posteriorly rotated ears 90% Ventriculomegaly 90% Abnormal dermatoglyphics 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the earlobes 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Increased number of teeth 50% Muscular hypotonia 50% Neurological speech impairment 50% Optic atrophy 50% Patellar dislocation 50% Sacral dimple 50% Seizures 50% Abnormality of the pupil 7.5% Abnormality of the ribs 7.5% Delayed skeletal maturation 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Nystagmus 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% Strabismus 7.5% 11 pairs of ribs - Abnormality of the skin - Abnormality of the teeth - Cerebral atrophy - Clinodactyly - Coxa valga - Inguinal hernia - Intellectual disability - Low-set ears - Osteoporosis - Patellar subluxation - Prominent nose - Radial deviation of finger - Retrognathia - Talipes equinovarus - 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 are the symptoms of Maple syrup urine disease type 1A ? 
 What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. 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) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - 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 are the symptoms of Hypomelia mullerian duct anomalies ? 
 What are the signs and symptoms of Hypomelia mullerian duct anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomelia mullerian duct anomalies. 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 dermatoglyphics 50% Abnormality of female internal genitalia 50% Abnormality of the elbow 50% Abnormality of the humerus 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Hypoplasia of penis 50% Microcephaly 50% Micromelia 50% Short stature 50% Split hand 50% Hypothyroidism 7.5% Postaxial hand polydactyly 7.5% Strabismus 7.5% Autosomal dominant inheritance - Longitudinal vaginal septum - Uterus didelphys - 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 Reticuloendotheliosis ? 
 What are the signs and symptoms of Reticuloendotheliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Reticuloendotheliosis. 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) Anemia - Hepatosplenomegaly - Infantile onset - Jaundice - Lymphadenopathy - 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.
What is (are) Myoclonic epilepsy with ragged red fibers ? 
 Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.
Is Myoclonic epilepsy with ragged red fibers inherited ? 
 Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited? MERRF is caused by mutations in the mitochondrial DNA and is transmitted by maternal inheritance. It is called maternal inheritance because a child inherits the great majority of their mitochondria from their mother through the egg.   The Centre for Genetics Education provides a detail description of maternal inheritance.  The mother of an individual with MERRF usually has a mitochondrial mutation and may or may not have symptoms.  Or, an individual with MERRF may have a mitochondrial mutation that just occurred in them, called a de novo mutation.  If the mother has the mitochondrial mutation, all of her children will inherit the mutation and may or may not have symptoms.  All of her daughters children will also inherit the mitochondrial mutation.  Her son's children are not at risk of inheriting the mutation.