Druvith/transformed_medDataset huggingface dataset:
What are the symptoms of Methylcobalamin deficiency cbl G type ? 
 What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G 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) Blindness 5% Nystagmus 5% Autosomal recessive inheritance - Cerebral atrophy - Decreased methionine synthase activity - Decreased methylcobalamin - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Infantile onset - Intellectual disability - Megaloblastic anemia - Muscular hypotonia - Poor coordination - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What is (are) Pseudoangiomatous stromal hyperplasia ? 
 Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for other non-cancerous or cancerous lesions. Tumorous PASH presents as a firm, painless breast mass or a dense region on a mammogram.
What are the treatments for Pseudoangiomatous stromal hyperplasia ? 
 Is treatment available for pseudoangiomatous stromal hyperplasia (PASH)? Surgical removal of the PASH lesions has been performed in some individuals. A wide margin around the mass may be removed to prevent recurrence. Although PASH lesions often grow over time and may recur, they are neither associated with malignancy (cancer) nor considered to be premalignant (pre-cancerous). According to the medical text, CONN's Current Therapy 2007, approximately 7 percent of people experience a recurrence of PASH.
What is (are) Leukoencephalopathy with vanishing white matter ? 
 Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe.
What are the symptoms of Leukoencephalopathy with vanishing white matter ? 
 What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. 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) Juvenile onset 33% Macrocephaly 33% Blindness 7.5% Autosomal recessive inheritance - Cerebral hypomyelination - Cessation of head growth - CNS demyelination - Decreased serum progesterone - Delusions - Developmental regression - Dysarthria - Emotional lability - Lethargy - Leukoencephalopathy - Memory impairment - Muscular hypotonia - Optic atrophy - Personality changes - Premature ovarian failure - Primary gonadal insufficiency - Secondary amenorrhea - Seizures - Spasticity - Unsteady gait - 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 Leukoencephalopathy with vanishing white matter ? 
 What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cells (protein synthesis). Proper regulation of protein synthesis ensures that the correct levels of protein are available for cells to cope with changing conditions and stress. Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition. Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by MRI and clinical features do not have an identifiable mutation, suggesting that additional genes may also be responsible for the condition.
Is Leukoencephalopathy with vanishing white matter inherited ? 
 How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
What are the treatments for Leukoencephalopathy with vanishing white matter ? 
 How might leukoencephalopathy with vanishing white matter be treated? Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications for seizures. Infections and fevers should be prevented when possible through the use of vaccinations; low-dose maintenance antibiotics during winter months; antibiotics for minor infections; and antipyretics (fever-reducing medications) for fever. For children, wearing a helmet outside can help minimize the effects of head trauma. Contact sports, head trauma, and stressful situations (including high body temperature) should be avoided. More detailed information about the management of leukoencephalopathy with vanishing white matter is available on the GeneReviews Web site.
What are the symptoms of Chondrodysplasia, Grebe type ? 
 What are the signs and symptoms of Chondrodysplasia, Grebe type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia, Grebe 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 metacarpal bones 90% Adactyly 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Limitation of joint mobility 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Abnormality of the fibula 50% Abnormality of the tibia 50% Aplasia/Hypoplasia of the thumb 50% Postaxial hand polydactyly 50% Acromesomelia - Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the patella - Autosomal recessive inheritance - Death in infancy - Disproportionate short-limb short stature - Fibular hypoplasia - Flexion contracture - Hypoplasia of the radius - Hypoplasia of the ulna - Short digit - Short femur - Short foot - Short humerus - Short phalanx of finger - Short tibia - Stillbirth - Valgus foot deformity - Valgus hand deformity - 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 Laurence Prosser Rocker syndrome ? 
 What are the signs and symptoms of Laurence Prosser Rocker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurence Prosser Rocker 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) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - 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) Frontonasal dysplasia ? 
 Frontonasal dysplasia is a very rare disorder that is characterized by abnormalities affecting the head and facial (craniofacial) region. Major physical features may include widely spaced eyes (ocular hypertelorism); a flat, broad nose; and a widow's peak hairline. In some cases, the tip of the nose may be missing; in more severe cases, the nose may separate vertically into two parts. In addition, an abnormal skin-covered gap in the front of the head (anterior cranium occultum) may also be present in some cases. Other features may include a cleft lip, other eye abnormalities (coloboma, cataract, microphthalmia), hearing loss, and/or agenesis of the corpus callosum. The majority of affected individuals have normal intelligence. The exact cause of frontonasal dysplasia is not known. Most cases occur randomly, for no apparent reason (sporadically). However, some cases are thought to run in families. Researchers have suggested that this condition is caused by mutations in the ALX3 gene and is inherited in an autosomal recessive fashion.
What are the symptoms of Frontonasal dysplasia ? 
 What are the signs and symptoms of Frontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontonasal 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) Hypertelorism 90% Median cleft lip 50% Midline defect of the nose 50% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of finger 7.5% Choanal atresia 7.5% Cleft palate 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Encephalocele 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Preauricular skin tag 7.5% Short stature 7.5% Single transverse palmar crease 7.5% Webbed neck 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.
What is (are) Pseudohypoparathyroidism ? 
 Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism). The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types. Click on the links below for more information on the various types of pseudohypoparathyroidism. Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2
What are the symptoms of Patterson pseudoleprechaunism syndrome ? 
 What are the signs and symptoms of Patterson pseudoleprechaunism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterson pseudoleprechaunism 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) Abnormal cortical bone morphology 90% Abnormality of the hypothalamus-pituitary axis 90% Abnormality of the metaphyses 90% Cognitive impairment 90% Delayed skeletal maturation 90% Generalized hyperpigmentation 90% Hypertrichosis 90% Kyphosis 90% Macrotia 90% Abnormality of the clavicle 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Hypercortisolism 50% Hyperextensible skin 50% Precocious puberty 50% Seizures 50% Type II diabetes mellitus 50% Cervical platyspondyly - Diabetes mellitus - Flat acetabular roof - Generalized bronze hyperpigmentation - Genu valgum - Growth abnormality - Hirsutism - Hypoplasia of the odontoid process - Intellectual disability, progressive - Intellectual disability, severe - Irregular acetabular roof - Irregular sclerotic endplates - Joint swelling onset late infancy - Kyphoscoliosis - Large hands - Long foot - Marked delay in bone age - Ovoid thoracolumbar vertebrae - Palmoplantar cutis laxa - Premature adrenarche - Prominent nose - Short long bone - Small cervical vertebral bodies - Sporadic - Talipes valgus - Thickened calvaria - 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) Phaeohyphomycosis ? 
 Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications.
What is (are) Transposition of the great arteries ? 
 Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.
What are the symptoms of Transposition of the great arteries ? 
 What are the signs and symptoms of Transposition of the great arteries? The Human Phenotype Ontology provides the following list of signs and symptoms for Transposition of the great arteries. 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) Transposition of the great arteries - 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 Transposition of the great arteries ? 
 What causes transposition of the great arteries (TGA)? The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. Changes (mutations) in specific genes including the GDF1, CFC1 and MED13L (also called THRAP2) genes have been implicated in only a small minority of TGA cases.
What are the symptoms of Pfeiffer Mayer syndrome ? 
 What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer 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) Abnormal nasal morphology 90% Abnormality of the pinna 90% Cognitive impairment 90% Optic atrophy 90% Preaxial hand polydactyly 90% Short stature 90% Chorioretinal coloboma 50% Iris coloboma 50% 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.