fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Hard skin syndrome Parana type ?
What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - 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 + Hard skin syndrome Parana type
What are the symptoms of Transaldolase deficiency ?
What are the signs and symptoms of Transaldolase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transaldolase 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) Anemia - Asthma - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Coarctation of aorta - Decreased liver function - Deep philtrum - Depressed nasal bridge - Failure to thrive - Hepatic fibrosis - Hepatomegaly - Hepatosplenomegaly - Low-set ears - Micronodular cirrhosis - Oligohydramnios - Pancytopenia - Patent ductus arteriosus - Patent foramen ovale - Poor suck - Short philtrum - Small for gestational age - Splenomegaly - Synophrys - Telangiectasia - Thin vermilion border - Thrombocytopenia - Triangular face - Ventricular septal defect - Wide anterior fontanel - Wide mouth - 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 + Transaldolase deficiency
What is (are) Benign rolandic epilepsy (BRE) ?
Benign rolandic epilepsy is the most common form of childhood epilepsy.  It is referred to as "benign" because most children outgrow the condition by puberty, usually by 14 years of age.  This form of epilepsy is characterized by seizures involving the part of the frontal lobe of the brain called the rolandic area. The seizures associated with this condition typically occur during the nighttime.  Treatment is usually not prescribed, since the condition tends to disappear by puberty. + GARD + Benign rolandic epilepsy (BRE)
What are the symptoms of Benign rolandic epilepsy (BRE) ?
What are the signs and symptoms of Benign rolandic epilepsy (BRE)? Patients with this syndrome typically present between the ages of 3 and 13 years with nighttime seizures. The episodes usually begin with twitching and stiffness of the face, and often wake up the child.  The clonic activity causes a tingling feeling on one side of the mouth involving the tongue, lips, gum and inner side of the cheek.  The seizure may also involve the throat which may make speech unclear and difficult to understand.   Occasionally, both sides of the body may be affected, which can lead to loss of consciousness causing stiffness and jerking movements of the arms and legs.  The child may also be incontinent.  After an episode, a child may be sleepy and doze for a few hours. The Human Phenotype Ontology provides the following list of signs and symptoms for Benign rolandic epilepsy (BRE). 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) Bilateral convulsive seizures - EEG with centrotemporal focal spike waves - 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. + GARD + Benign rolandic epilepsy (BRE)
What causes Benign rolandic epilepsy (BRE) ?
What causes benign rolandic epilepsy? Benign rolandic epilepsy is a genetic syndrome with an autosomal dominant mode of inheritance.  Although the gene associated with the condition has not been identified, Neubauer et al. (1998) found evidence of linkage to chromosome 15q. Juvenile myoclonic epilepsy has been mapped to the same region. + GARD + Benign rolandic epilepsy (BRE)
What are the treatments for Benign rolandic epilepsy (BRE) ?
What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine. + GARD + Benign rolandic epilepsy (BRE)
What is (are) Situs inversus ?
Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported. + GARD + Situs inversus
What are the symptoms of Situs inversus ?
What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present. + GARD + Situs inversus
Is Situs inversus inherited ?
Is situs inversus inherited? The genetics of situs inversus is complex. Several familial cases have been reported in which the inheritance has been described as either autosomal recessive (most commonly), autosomal dominant, or X-linked. The condition appears to be genetically heterogeneous, meaning that different genetic factors or genes may cause the condition among different people or families. If situs inversus is associated with another underlying syndrome or condition, the inheritance pattern may be the same as that of the underlying condition. People with questions about genetic risks to themselves or family members are encouraged to speak with a genetics professional. + GARD + Situs inversus
How to diagnose Situs inversus ?
How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source). + GARD + Situs inversus
What are the treatments for Situs inversus ?
How might situs inversus be treated? In isolated situs inversus, no treatment may be necessary. When situs inversus is associated with another condition, treatment may depend on the associated condition and the signs and symptoms present in the affected person. Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen. Wearing medical identification can help ensure proper treatment in an emergency medical situation. + GARD + Situs inversus
What are the symptoms of Amyloidosis corneal ?
What are the signs and symptoms of Amyloidosis corneal? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyloidosis corneal. 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 - Blurred vision - Childhood onset - Corneal dystrophy - Photophobia - Reduced visual acuity - Visual impairment - 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 + Amyloidosis corneal
How to diagnose Amyloidosis corneal ?
Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here. + GARD + Amyloidosis corneal
What is (are) Pyle disease ?
Pyle disease is a bone disorder characterized by genu valgum (knock knees), Erlenmeyer flask deformity (where there is relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone), widening of the ribs and clavicles (collarbones), platyspondyly (flattening of the bones of the spine) and cortical thinning. Only about 30 cases have been reported in the literature. Cranial involvement is minimal with some showing mild hyperostosis (excessive new bone formation ) of the skull base and thickening of the frontal and occipital bones. Pyle disease is passed through families in an autosomal recessive manner. + GARD + Pyle disease
What are the symptoms of Pyle disease ?
What are the signs and symptoms of Pyle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyle disease. 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) Genu valgum 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the elbow 50% Abnormality of the ribs 50% Craniofacial hyperostosis 50% Mandibular prognathia 50% Prominent supraorbital ridges 50% Recurrent fractures 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Carious teeth 7.5% Dental malocclusion 7.5% Abnormality of the thorax - Arthralgia - Autosomal recessive inheritance - Limited elbow extension - Metaphyseal dysplasia - Muscle weakness - Platyspondyly - 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. + GARD + Pyle disease
Is Pyle disease inherited ?
Is Pyle disease inherited? Pyle disease in inherited in an autosomal recessive manner, 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 often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes. + GARD + Pyle disease
What is (are) Trisomy 17 mosaicism ?
Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. Few cases of trisomy 17 mosaicism have been described, most having been detected during pregnancy through a test called amniocentesis. Only a few individuals have had a confirmed diagnosis of trisomy 17 mosaicism after birth. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person. + GARD + Trisomy 17 mosaicism
What causes Trisomy 17 mosaicism ?
What causes trisomy 17 mosaicism? Trisomy 17 mosaicism can arise due to errors in cell division that occur after conception. For example, at the time of conception, the fetus may actually have trisomy 17 in all of its cells; however, during cell division, some of the cells lose the extra chromosome 17. Alternatively, the fetus may initially have had only two copies of chromosome 17, but due to errors in cell division some of the cells end up with an extra copy of chromosome 17. Either of these two scenarios result in trisomy 17 mosaicism. To read more about trisomy mosaicism, visit the following links from the Medical Genetics Department at the University of British Columbia in Canada. What is mosaicism?  How does trisomy mosaicism occur? + GARD + Trisomy 17 mosaicism
What are the symptoms of Macular dystrophy, atypical vitelliform ?
What are the signs and symptoms of Macular dystrophy, atypical vitelliform? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, atypical vitelliform. 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) Reduced visual acuity 5% Visual field defect 5% Visual impairment 5% Autosomal dominant inheritance - Late onset - Macular dystrophy - Vitelliform-like macular lesions - 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 + Macular dystrophy, atypical vitelliform
What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ?
What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. 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) Acidosis - Aminoaciduria - Autosomal recessive inheritance - Intellectual disability - Muscular dystrophy - Osteoporosis - Severe short stature - 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 + Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ?
What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver 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 dermatoglyphics 90% Abnormal nasal morphology 90% Abnormality of the palate 90% Abnormality of the pinna 90% Cognitive impairment 90% Dolichocephaly 90% Gait disturbance 90% Hearing abnormality 90% Macrocephaly 90% Muscular hypotonia 90% Narrow face 90% Neurological speech impairment 90% Pectus excavatum 90% Prominent nasal bridge 90% Radioulnar synostosis 90% Strabismus 90% Carious teeth 50% Multicystic kidney dysplasia 50% Autosomal recessive inheritance - Dislocated radial head - Generalized hypotonia - Long face - Prominent nose - 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 + Der Kaloustian Mcintosh Silver syndrome