fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Syndromic microphthalmia, type 3 ?
What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 3. 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) Aplasia/Hypoplasia affecting the eye 90% Tracheoesophageal fistula 90% Abnormal form of the vertebral bodies 50% Aplasia/Hypoplasia of the corpus callosum 50% Cryptorchidism 50% External ear malformation 50% Visual impairment 50% Abnormality of the ribs 7.5% Cognitive impairment 7.5% Displacement of the external urethral meatus 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Hypoplasia of penis 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Sclerocornea 7.5% Ventricular septal defect 7.5% Agenesis of corpus callosum - Anophthalmia - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Butterfly vertebrae - Coloboma - Esophageal atresia - Frontal bossing - Hemivertebrae - Hypogonadotrophic hypogonadism - Hypoplasia of the corpus callosum - Hypospadias - Hypothalamic hamartoma - Microcephaly - Micropenis - Microphthalmia - Missing ribs - Muscular hypotonia - Optic nerve hypoplasia - Postnatal growth retardation - Rib fusion - Sensorineural hearing impairment - Short stature - Spastic diplegia - Spastic tetraplegia - Specific learning disability - Supernumerary ribs - Vertebral fusion - Vertebral hypoplasia - 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. + GARD + Syndromic microphthalmia, type 3
What is (are) Glioma ?
Glioma refers to a type of brain tumor that develops from the glial cells, which are specialized cells that surround and support neurons (nerve cells) in the brain. It is generally classified based on which type of glial cell is involved in the tumor: Astocytoma - tumors that develop from star-shaped glial cells called astrocytes Ependymomas - tumors that arise from ependymal cells that line the ventricles of the brain and the center of the spinal cord Oligodendrogliomas - tumors that affect the oligodendrocytes The symptoms of glioma vary by type but may include headaches; nausea and vomiting; confusion; personality changes; trouble with balance; vision problems; speech difficulties; and/or seizures. The exact underlying cause is unknown. In most cases, the tumor occurs sporadically in people with no family history of the condition. Treatment depends on many factors, including the type, size, stage and location of the tumor, but may include surgery, radiation therapy, chemotherapy and/or targeted therapy. + GARD + Glioma
What are the symptoms of Phosphoglycerate kinase deficiency ?
What are the signs and symptoms of Phosphoglycerate kinase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase 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) Hemolytic anemia 60% Myopathy 45% Renal insufficiency 7.5% Retinal dystrophy 5% Visual loss 5% Ataxia - Delayed speech and language development - Emotional lability - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Intellectual disability - Migraine - Phenotypic variability - Reticulocytosis - Rhabdomyolysis - Seizures - 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. + GARD + Phosphoglycerate kinase deficiency
What are the symptoms of Glycosylphosphatidylinositol deficiency ?
What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol 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 - Hepatomegaly - Portal hypertension - Portal vein thrombosis - Seizures - Splenomegaly - 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. + GARD + Glycosylphosphatidylinositol deficiency
What is (are) Hypohidrotic ectodermal dysplasia ?
Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures). + GARD + Hypohidrotic ectodermal dysplasia
How to diagnose Hypohidrotic ectodermal dysplasia ?
Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis. Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes. We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. + GARD + Hypohidrotic ectodermal dysplasia
What are the treatments for Hypohidrotic ectodermal dysplasia ?
How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal body temperature, they should frequently drink cool liquids and wear cool clothing. Dental defects can be managed with dentures and implants. Artificial tears are used to prevent cornea damage for patients that do not produce enough tears. Surgery to repair a cleft palate is also helpful in improving speech and facial deformities. + GARD + Hypohidrotic ectodermal dysplasia
What is (are) Gangliocytoma ?
Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor. Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease). + GARD + Gangliocytoma
What are the symptoms of Gangliocytoma ?
What are the signs and symptoms of gangliocytomas? Signs and symptoms caused by the presence of a gangliocytoma can vary depending on the tumor's location. Seizures are the most common symptom. Other symptoms may include increased brain pressure, endocrine disorders, and focal symptoms. Gangliocytomas can also be asymptomatic (cause no symptoms) and may be diagnosed incidentally on imaging studies. + GARD + Gangliocytoma
What is (are) Citrullinemia type I ?
Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern. + GARD + Citrullinemia type I
What are the symptoms of Citrullinemia type I ?
What are the signs and symptoms of Citrullinemia type I? Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum. Infants with the acute neonatal form typically appear normal at birth, but as ammonia builds up in the body they become progressively lethargic, feed poorly, vomit, and develop signs of increased intracranial pressure, which can lead to seizures and loss of consciousness. Less commonly, a milder form of citrullinemia type I can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, slurred speech, problems with balance and muscle coordination (ataxia), behavior problems, and lethargy. Episodes of high blood ammonia often happen after going without food for long periods of time, during illness or infection or after high-protein meals. Some people with gene mutations that cause citrullinemia type I never experience signs and symptoms of the disorder and are only found to be affected after a brother or sister is diagnosed. The Human Phenotype Ontology provides the following list of signs and symptoms for Citrullinemia type I. 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) Stroke 5% Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Episodic ammonia intoxication - Failure to thrive - Hepatomegaly - Hyperammonemia - Hyperglutaminemia - Hypoargininemia - Intellectual disability - Irritability - Lethargy - Neonatal onset - Oroticaciduria - Phenotypic variability - Protein avoidance - Respiratory alkalosis - Seizures - 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. + GARD + Citrullinemia type I
What causes Citrullinemia type I ?
What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition. + GARD + Citrullinemia type I
Is Citrullinemia type I inherited ?
How is citrullinemia type I inherited? Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GARD + Citrullinemia type I
What are the treatments for Citrullinemia type I ?
What happens when citrullinemia type I is not treated?  Untreated individuals with the severe form of citrullinemia type I have hyperammonemia (plasma ammonia concentration 1000-3000 mol/L). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites result in swelling of the brain, breathing problems, increased or decreased muscle tone, muscle weakness, problems staying warm, seizures, loss of consciousness, and sometimes death. Without treatment, most babies die within the first few weeks of life. + GARD + Citrullinemia type I
What is (are) Turner syndrome ?
Turner syndrome is a chromosomal disorder that affects development in females. It is characterized by a person having one X chromosome in each cell (females without Turner syndrome have two X chromosomes in each cell). Signs and symptoms may include short stature; premature ovarian failure; a "webbed" neck; a low hairline at the back of the neck; and swelling (lymphedema) of the hands and feet. Some people with Turner syndrome have skeletal abnormalities, kidney problems, and/or a congenital heart defect. Most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and/or behavior problems. Turner syndrome is typically not inherited, but it can be inherited in rare cases. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. While most women with Turner syndrome are infertile, assisted reproductive techniques can help some women become pregnant. + GARD + Turner syndrome
What causes Turner syndrome ?
What causes Turner syndrome? Turner syndrome is caused by partial or complete loss of one of the X chromosomes in cells of females. Females without Turner syndrome have 2 full X chromosome in all of their cells (and males have one X chromosome and one Y chromosome). The missing genetic material affects development before and after birth. Most females with Turner syndrome are missing a full X chromosome in all of their cells (also called monosomy X). This form results from a random error in an egg or sperm cell prior to conception. Some females with Turner syndrome have two X chromosomes, but one of them is missing a piece (has a deletion). Depending on the specific gene(s) that are missing, the features of Turner syndrome may result. A deletion may occur sporadically (not inherited) or may be inherited from a parent. Mosaic Turner syndrome (when some cells have one X chromosome and some have two sex chromosomes) is caused by a random error in early fetal development (shortly after conception). It is still unclear exactly which genes on the X chromosome are associated with each feature of Turner syndrome. It is known that the SHOX gene on the X chromosome is important for growth and bone development. A missing copy of this gene is thought to result in the short stature and skeletal abnormalities in many affected women. + GARD + Turner syndrome
Is Turner syndrome inherited ?
Is Turner syndrome inherited? Most cases of Turner syndrome are not inherited. Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception). For example, if an egg or sperm cell mistakenly loses a sex chromosome, and joins at conception with an egg or sperm containing an X chromosome, the resulting child will have a single X chromosome in each cell. Mosaic Turner syndrome, occurring when a person has some cells with one X chromosome and some cells with two sex chromosomes, is also not inherited. This also occurs due to a random event, during early fetal development rather than before conception. In rare cases, Turner syndrome may be caused by a missing piece (partial deletion) of the X chromosome. A deletion can be inherited from a parent. Genetic testing of an affected fetus or child can identify the type of Turner syndrome present and may help to estimate the risk of recurrence. People with questions about genetic testing or recurrence risks for Turner syndrome are encouraged to speak with a genetic counselor or other genetics professional. + GARD + Turner syndrome
What are the symptoms of Spinocerebellar ataxia 17 ?
What are the signs and symptoms of Spinocerebellar ataxia 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 17. 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) Aggressive behavior - Apraxia - Autosomal dominant inheritance - Bradykinesia - Broad-based gait - Cerebellar atrophy - Chorea - Confusion - Depression - Diffuse cerebral atrophy - Dysarthria - Dysmetria - Dysphagia - Dystonia - Frontal lobe dementia - Frontal release signs - Gait ataxia - Gaze-evoked nystagmus - Gliosis - Hallucinations - Impaired pursuit initiation and maintenance - Intention tremor - Lack of insight - Limb ataxia - Mutism - Myoclonus - Neuronal loss in central nervous system - Paranoia - Parkinsonism - Positive Romberg sign - Progressive - Rigidity - Seizures - Urinary incontinence - 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. + GARD + Spinocerebellar ataxia 17
What are the symptoms of Ulna metaphyseal dysplasia syndrome ?
What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia 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 hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Delayed skeletal maturation 90% Abnormal form of the vertebral bodies 50% Abnormality of the fibula 50% Abnormality of the metacarpal bones 50% Short stature 50% Abnormality of the voice 7.5% Depressed nasal ridge 7.5% Microdontia 7.5% Nephrolithiasis 7.5% Abnormality of the vertebral column - Autosomal dominant inheritance - Coxa valga - Hypercalcemia - 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. + GARD + Ulna metaphyseal dysplasia syndrome