Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Congenital bilateral absence of the vas deferens ?
Answer: What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. 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 - Azoospermia - Heterogeneous - 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.
Question:  What causes Congenital bilateral absence of the vas deferens ?
Answer: What causes congenital bilateral absence of the vas deferens (CBAVD)? More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. In instances of CBAVD without a mutation in the CFTR gene, the cause of this condition is often unknown. Some cases are associated with other structural problems of the urinary tract.
Question:  Is Congenital bilateral absence of the vas deferens inherited ?
Answer: How is congenital bilateral absence of the vas deferens (CBAVD) inherited? When this condition is caused by mutations in the CFTR gene, it is inherited in an autosomal recessive pattern. This pattern of inheritance means that both copies of the gene in each cell have a mutation. Parents of a person with CBAVD each carry one CFTR mutation, but are usually unaffected (carriers). Men with CBAVD who choose to father children through assisted reproduction have an increased risk of having a child with cystic fibrosis. If congenital absence of the vas deferens is not caused by mutations in CFTR, the risk of having children with cystic fibrosis is not increased. The risk to siblings of a person with CBAVD depends on the affected person's CFTR gene mutation(s) and cannot readily be predicted without this information. Genetic testing is most informative when the CBAVD-causing mutations have been identified in the affected individual. Men with CBAVD sometimes have only one identifiable CFTR mutation, complicating the testing and interpretation of results in their family members. We recommend speaking with a genetics professional about risk to other family members as well as any appropriate genetic testing.
Question:  How to diagnose Congenital bilateral absence of the vas deferens ?
Answer: Is genetic testing available for congenital bilateral absence of the vas deferens (CBAVD)? GeneTests lists the names of laboratories that are performing genetic testing for CBAVD. To view the contact information for the clinical laboratories conducting testing, click here. Please note:  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.  Below, we have provided a list of online resources that can assist you in locating a genetics professional near you.
Question:  What are the symptoms of Olivopontocerebellar atrophy deafness ?
Answer: What are the signs and symptoms of Olivopontocerebellar atrophy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Olivopontocerebellar atrophy deafness. 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) Cerebral cortical atrophy 90% Hearing impairment 90% Hyperreflexia 90% Incoordination 90% Ventriculomegaly 90% Aplasia/Hypoplasia of the cerebellum 50% Nystagmus 50% Chorioretinal coloboma 7.5% EEG abnormality 7.5% Hypertonia 7.5% Neurological speech impairment 7.5% Optic atrophy 7.5% Seizures 7.5% Strabismus 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.
Question:  What are the symptoms of Odontomicronychial dysplasia ?
Answer: What are the signs and symptoms of Odontomicronychial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Odontomicronychial 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) Abnormality of the fingernails 90% Advanced eruption of teeth 90% Premature loss of primary teeth 90% Autosomal recessive inheritance - Premature eruption of permanent teeth - Short nail - Slow-growing nails - Thin nail - 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.
Question:  What are the symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ?
Answer: What are the signs and symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, low-birth-weight type with unresponsiveness to growth hormone. 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) Hearing impairment - Hypoglycemia - Intellectual disability - Intrauterine growth retardation - 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.
Question:  What are the symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract ?
Answer: What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. 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 - Cataract - 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.
Question:  What are the symptoms of Progressive supranuclear palsy atypical ?
Answer: What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. 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 pyramidal signs - Adult onset - Dementia - Kyphoscoliosis - Morphological abnormality of the pyramidal tract - Ophthalmoparesis - Parkinsonism - Rigidity - Tremor - 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.
Question:  What are the symptoms of Acrofacial dysostosis Catania type ?
Answer: What are the signs and symptoms of Acrofacial dysostosis Catania type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrofacial dysostosis Catania 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 palate 90% Abnormality of the philtrum 90% Brachydactyly syndrome 90% Cognitive impairment 90% Finger syndactyly 90% High forehead 90% Hypoplasia of the zygomatic bone 90% Microcephaly 90% Short nose 90% Short palm 90% Short stature 90% Abnormality of periauricular region 50% Cryptorchidism 50% Delayed skeletal maturation 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Single transverse palmar crease 50% Clinodactyly of the 5th finger 7.5% Coarse hair 7.5% Displacement of the external urethral meatus 7.5% Facial cleft 7.5% Hernia of the abdominal wall 7.5% Pectus excavatum 7.5% Premature birth 7.5% Reduced number of teeth 7.5% Spina bifida occulta 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.
Question:  What are the symptoms of Poikiloderma with neutropenia ?
Answer: What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. 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 5% Hypoplasia of midface 5% Malar flattening 5% Autosomal recessive inheritance - Blepharitis - Conjunctivitis - Neutropenia - Poikiloderma - Recurrent otitis media - Recurrent pneumonia - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What are the symptoms of Pallister W syndrome ?
Answer: What are the signs and symptoms of Pallister W syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pallister W 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) Acne 90% Broad forehead 90% Cognitive impairment 90% Eczema 90% Hypertonia 90% Macrotia 90% Mandibular prognathia 90% Narrow face 90% Short philtrum 90% Short stature 90% Strabismus 90% Wide nasal bridge 90% Camptodactyly of finger 50% Camptodactyly of toe 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cubitus valgus 50% Elbow dislocation 50% Hearing impairment 50% Hypertelorism 50% Median cleft lip 50% Non-midline cleft lip 50% Pes cavus 50% Seizures 50% Displacement of the external urethral meatus 7.5% Agenesis of central incisor - Agenesis of maxillary central incisor - Alternating esotropia - Broad nasal tip - Broad uvula - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Hypoplasia of the ulna - Intellectual disability - Joint contracture of the hand - Pes planus - Radial bowing - Radial deviation of finger - Spasticity - Submucous cleft hard palate - Telecanthus - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Accessory navicular bone ?
Answer: An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. This bone may develop a bump that can cause irritation, swelling, and pain. Click here to view a diagram of the foot.
Question:  What are the symptoms of Accessory navicular bone ?
Answer: What are the signs and symptoms of Accessory navicular bone? Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. Symptoms may worsen with increased activity or tight shoes. The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory navicular bone. 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 skeletal system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What causes Accessory navicular bone ?
Answer: What causes of accessory navicular bone? The cause of accessory navicular bone is unknown. In some cases, the condition may be related to the development of flatfoot also known as pes planus, in other cases it may be related to repeated foot and ankle sprains.
Question:  What are the treatments for Accessory navicular bone ?
Answer: How might accessory navicular bone be treated? If the accessory navicular bone is causing symptoms, activities may be restricted and a softer shoe may be recommended until the symptoms go away. If the symptoms persist a specially and carefully made shoe support may be tried. In children the condition usually resolves once the child stops growing. For people with accessory navicular bone who experience severe symptoms surgery may be considered to remove the bony growth. Other treatments may include non-steroidal anti-inflammatories (NSAIDs) such as ibuprofen, placing a doughnut-shaped piece of moleskin around the affected area to relieve pain and tenderness, or immobilizing the area with a cast for six weeks.
Question:  What is (are) HTLV-1 associated myelopathy/tropical spastic paraparesis ?
Answer: HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic, progressive disease of the nervous system that affects less than 2 percent of people with HTLV-1 infection. Signs and symptoms vary but may include progressive weakness, stiff muscles, muscle spasms, backache, a 'weak' bladder, and constipation. The HTLV-1 virus can be transmitted from mother to child via breastfeeding or childbirth, from person to person through sexual contact and through blood contact, either by transfusion or by reuse of injection equipment. HTLV infection is not passed from person to person by coughing, sneezing, kissing, cuddling or daily social contact. Screening of donated blood for HTLV-1 has been done in the United States since 1988.
Question:  What are the symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis ?
Answer: What are the signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis? Signs and symptoms of HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) vary but may include: Progressive weakness  Stiff muscles  Muscle spasms  Backache A 'weak' bladder  Constipation Rarely HAM/TSP may cause: Uveitis  Arthritis Inflammation of the lung  Polymyositis  Dry eyes (keratoconjunctivitis sicca)  Skin inflammation (infectious dermatitis)
Question:  What are the treatments for HTLV-1 associated myelopathy/tropical spastic paraparesis ?
Answer: How might HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) be treated? There is no established treatment program for HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).  Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder.  Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine.  Urinary dysfunction may be treated with oxybutynin.