bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Premature aging Okamoto type? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature aging Okamoto 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 blood and blood-forming tissues - Abnormality of the hair - Abnormality of the pinna - Cataract - Depressed nasal bridge - Diabetes mellitus - Growth abnormality - Low-set ears - Microcephaly - Neoplasm - Osteoporosis - Osteosarcoma - Round face - 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 signs and symptoms of Pili torti onychodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti onychodysplasia. 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) Sparse body hair 5% Absent eyebrow - Absent eyelashes - Alopecia - Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Congenital onychodystrophy - Hair-nail ectodermal dysplasia - Nail dystrophy - Onycholysis - Pili torti - Temporal hypotrichosis - 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 signs and symptoms of Wellesley Carmen French syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wellesley Carmen French 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 oral cavity 50% Cataract 50% Cavernous hemangioma 50% Epicanthus 50% Hypermetropia 50% Low-set, posteriorly rotated ears 50% Ptosis 50% Short stature 50% Umbilical hernia 50% Accessory oral frenulum - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Curly hair - Posterior polar cataract - Posteriorly rotated ears - Short nose - Short palpebral fissure - Upslanted palpebral fissure - 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.
Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. If untreated, compression of the cranial nerves can be disabling. The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner. Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.
What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear.
How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
What are the signs and symptoms of Osteopetrosis autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 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) Abnormality of epiphysis morphology 90% Abnormality of the renal tubule 90% Anemia 90% Aseptic necrosis 90% Bone pain 90% Cognitive impairment 90% Genu valgum 90% Hepatomegaly 90% Increased bone mineral density 90% Recurrent fractures 90% Reduced bone mineral density 90% Splenomegaly 90% Abnormality of dental morphology 50% Carious teeth 50% Cerebral calcification 50% Mandibular prognathia 50% Peripheral neuropathy 50% Thrombocytopenia 50% Optic atrophy 7.5% Visual impairment 7.5% Autosomal recessive inheritance - Basal ganglia calcification - Cranial hyperostosis - Dental malocclusion - Diaphyseal sclerosis - Distal renal tubular acidosis - Elevated serum acid phosphatase - Extramedullary hematopoiesis - Hepatosplenomegaly - Intellectual disability - Optic nerve compression - Osteopetrosis - Periodic hypokalemic paresis - Short stature - Visual loss - 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 signs and symptoms of Kleefstra syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleefstra 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) Anteverted nares 90% Cognitive impairment 90% Hypertelorism 90% Intellectual disability 90% Malar flattening 90% Muscular hypotonia 90% Neurological speech impairment 90% Short nose 90% Tented upper lip vermilion 90% Abnormality of the aorta 50% Abnormality of the aortic valve 50% Arrhythmia 50% Autism 50% Brachycephaly 50% Broad forehead 50% Coarse facial features 50% Constipation 50% Delayed speech and language development 50% Hearing impairment 50% Highly arched eyebrow 50% Macroglossia 50% Mandibular prognathia 50% Microcephaly 50% Obesity 50% Otitis media 50% Protruding tongue 50% Sleep disturbance 50% Synophrys 50% Thickened helices 50% Upslanted palpebral fissure 50% U-Shaped upper lip vermilion 50% Ventricular septal defect 50% Aggressive behavior 33% Cryptorchidism 33% Hypospadias 33% Micropenis 33% Recurrent respiratory infections 33% Stereotypic behavior 33% Seizures 30% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Bowel incontinence 7.5% Cerebral cortical atrophy 7.5% Delayed eruption of teeth 7.5% Developmental regression 7.5% Downturned corners of mouth 7.5% Facial asymmetry 7.5% Hernia 7.5% Limitation of joint mobility 7.5% Natal tooth 7.5% Persistence of primary teeth 7.5% Pyloric stenosis 7.5% Renal cyst 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Scoliosis 7.5% Self-injurious behavior 7.5% Short stature 7.5% Supernumerary nipple 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Ventriculomegaly 7.5% Vesicoureteral reflux 7.5% Gastroesophageal reflux 5% Apathy 1% Tracheobronchomalacia 1% Microcephaly 8/22 Hearing impairment 3/22 Autosomal dominant inheritance - Brachydactyly syndrome - Flat face - Hypoplasia of midface - Intellectual disability, severe - Obsessive-compulsive behavior - Single transverse palmar crease - 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.
Large granular lymphocyte (LGL) leukemia is a rare cancer of a type of white blood cells called lymphocytes. LGL leukemia causes a slow increase in white blood cells called T lymphocytes, or T cells, which originate in the lymph system and bone marrow and help to fight infection. This disease usually affects people in their sixties. Symptoms include anemia; low levels of platelets (thrombocytopenia) and infection-fighting neutrophils (neutropenia) in the blood; and an enlarged spleen. About one-third of patients are asymptomatic at the time of diagnosis. The exact cause of LGL leukemia is unknown. Doctors can diagnose this disease through a bone marrow biopsy, or by using a specialized technique in which various types of blood or bone marrow cells are separated, identified, and counted.
What are the signs and symptoms of Bardet-Biedl syndrome 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 9. 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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 signs and symptoms of Torsion dystonia with onset in infancy? The Human Phenotype Ontology provides the following list of signs and symptoms for Torsion dystonia with onset in infancy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Infantile onset - Torsion dystonia - 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.
Gray zone lymphoma is a cancer of the immune system.  The name of this lymphoma refers to the fact that cancer cells in this condition are in a "gray zone" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma.  Because features of gray zone lymphoma overlap with these two other types of lymphoma, diagnosing this condition can be difficult.  Gray zone lymphoma is most often diagnosed in young adults when an unusual lump (mass) is found in the chest in the space between the lungs (mediastinum).  This condition affects men and women equally.
How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL).  Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated.  At this time, there are no guidelines for the best treatment of gray zone lymphoma; treatment is determined based on each individual's diagnosis.  Treatment usually begins with chemotherapy, which may be followed by radiation therapy in some cases.
What are the signs and symptoms of Mesomelic dysplasia Kantaputra type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Kantaputra 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 ankles 90% Abnormality of the fibula 90% Abnormality of the humerus 90% Camptodactyly of finger 90% Micromelia 90% Short stature 90% Tarsal synostosis 90% Clinodactyly of the 5th finger 50% Synostosis of carpal bones 50% Ulnar deviation of finger 50% Abnormality of the ribs 7.5% Cubitus valgus 7.5% Talipes 7.5% Vertebral segmentation defect 7.5% Autosomal dominant inheritance - Carpal synostosis - Mesomelia - Radial bowing - 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.
Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.