randomani/MedicalQnA-llama2 huggingface dataset:
This is a medical question of type : symptoms 
 What are the symptoms of Autosomal recessive pseudohypoaldosteronism type 1 ? 
 What are the signs and symptoms of Autosomal recessive pseudohypoaldosteronism type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive pseudohypoaldosteronism type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Feeding difficulties in infancy - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperkalemia - Hyponatremia - Hypotension - Infantile onset - Metabolic acidosis - Pseudohypoaldosteronism - Recurrent respiratory infections - Renal salt wasting - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Normophosphatemic familial tumoral calcinosis ? 
 What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. 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 skin - Autosomal recessive inheritance - Calcinosis - Conjunctivitis - Gingivitis - 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.
This is a medical question of type : information 
 What is (are) Lattice corneal dystrophy type 3A ? 
 Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.
This is a medical question of type : symptoms 
 What are the symptoms of Lattice corneal dystrophy type 3A ? 
 What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. 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 - Corneal erosion - Lattice corneal dystrophy - 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.
This is a medical question of type : symptoms 
 What are the symptoms of T-cell lymphoma 1A ? 
 What are the signs and symptoms of T-cell lymphoma 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for T-cell lymphoma 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Leukemia - T-cell lymphoma/leukemia - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Steatocystoma multiplex with natal teeth ? 
 What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. 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) Neoplasm of the skin 90% Hypermelanotic macule 50% Nephrolithiasis 50% Recurrent cutaneous abscess formation 50% Congenital, generalized hypertrichosis 7.5% Abnormality of the nail - Autosomal dominant inheritance - Natal tooth - Steatocystoma multiplex - 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.
This is a medical question of type : information 
 What is (are) MECP2 duplication syndrome ? 
 MECP2 duplication syndrome is a genetic condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Other signs and symptoms include infantile hypotonia; delayed motor milestones (i.e. sitting up, crawling); recurrent infections; poor or absent speech; seizures; and/or spasticity. MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The condition is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person.
This is a medical question of type : causes 
 What causes MECP2 duplication syndrome ? 
 What causes MECP2 duplication syndrome? MECP2 duplication syndrome occurs when there is an extra copy (duplication) of the MECP2 gene in each cell. This is generally caused by a duplication of genetic material located on the long (q) arm of the X chromosome. The size of the duplication can vary; however, this does not appear to affect the severity of the condition. People with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene encodes a protein that is important for normal brain functioning. Although it plays many roles, one of its most important functions is to regulate other genes in the brain by switching them on and off. A duplication of the MECP2 gene leads to the production of excess protein, which is unable to properly regulate the expression of other genes. This results in irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.
This is a medical question of type : inheritance 
 Is MECP2 duplication syndrome inherited ? 
 Is MECP2 duplication syndrome inherited? MECP2 duplication syndrome is inherited in an X-linked manner. A condition is considered X-linked if the genetic change that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). In males (who have only one X chromosome), a duplication of the MECP2 gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a duplication of one of the two copies of the gene typically does not cause the disorder. Early in the development of females, one of the two X chromosomes is randomly and permanently inactivated in each cell (called X-inactivation). X-inactivation prevents female cells from having twice as many functional X chromosomes as males. Because X-inactivation is usually random, the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. However, when a female has an X chromosome with a duplicated copy of the MECP2 gene, the abnormal chromosome is often preferentially inactivated in many or all cells. This is called "skewed X-inactivation." It prevents some women with an MECP2 duplication from developing features of the duplication since the extra genetic material is not active. In most cases, MECP2 duplication syndrome is inherited from a mother who has no signs or symptoms of the duplication. Rarely, the condition is not inherited and occurs due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo duplication (occurring as a new genetic change for the first time in the affected person).
This is a medical question of type : exams and tests 
 How to diagnose MECP2 duplication syndrome ? 
 How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis.
This is a medical question of type : treatment 
 What are the treatments for MECP2 duplication syndrome ? 
 How might MECP2 duplication syndrome be treated? Because MECP2 duplication syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, infants with trouble swallowing and/or other feeding difficulties may require a feeding tube. Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy, speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity. Recurrent infections are usually treated aggressively with appropriate antibiotics. Please speak with a healthcare provider if you have any questions about your personal medical management plan or that of a family member.
This is a medical question of type : symptoms 
 What are the symptoms of Alopecia macular degeneration growth retardation ? 
 What are the signs and symptoms of Alopecia macular degeneration growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia macular degeneration growth retardation. 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 hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - 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.
This is a medical question of type : symptoms 
 What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ? 
 What are the signs and symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. 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 eyelashes 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% EEG abnormality 90% Gingivitis 90% Memory impairment 90% Seizures 50% Hearing impairment 7.5% Hydrocephalus 7.5% Melanocytic nevus 7.5% Alopecia universalis - Autosomal dominant inheritance - Congenital alopecia totalis - Intellectual disability, mild - Periodontitis - 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.
This is a medical question of type : information 
 What is (are) Mosaic trisomy 14 ? 
 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.
This is a medical question of type : symptoms 
 What are the symptoms of Mosaic trisomy 14 ? 
 What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have fewer and/or less severe symptoms than those with a high percentage of affected cells. Some of the more commonly reported characteristics of the condition include: intrauterine growth restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal skin pigmentation structural defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics such as a prominent forehead; widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the mouth (palate) Skeletal abnormalities have also been reported and include dislocation of the hips; overlapping of certain fingers or toes; and/or other features. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 14. 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 chromosome segregation 90% Cognitive impairment 90% Frontal bossing 90% Prominent nasal bridge 90% Short neck 90% Short stature 90% Wide mouth 90% Anteverted nares 50% Blepharophimosis 50% Cleft palate 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Ectopic anus 50% Hypertelorism 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Seizures 50% Single transverse palmar crease 50% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Camptodactyly of finger 7.5% Lower limb asymmetry 7.5% Ptosis 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.
This is a medical question of type : causes 
 What causes Mosaic trisomy 14 ? 
 What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic trisomy 14 appear to result from random errors in the separation of chromosomes (nondisjunction) -- either during the division of the egg or sperm in one of the parents, or during cell division after fertilization. There have been some reports in which it may have occurred due to other phenomenon, such as uniparental disomy or the formation of an isochromosome. Uniparental disomy is when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. Unique has a leaflet on their Web site that contains additional descriptions and illustrations of how mosaic trisomy 14 may occur. Click here to view the leaflet.
This is a medical question of type : treatment 
 What are the treatments for Mosaic trisomy 14 ? 
 How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be treated aggressively and early. Some infants and children with the condition may need surgical repair of certain craniofacial, genital, or other abnormalities. Early intervention may be important in ensuring that children with the reach their potential. Special services that may be beneficial include special education, physical therapy, and/or other medical, social, and/or vocational services.