umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Bamforth syndrome ?

Answer: What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth 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 hair quantity 90% Choanal atresia 90% Cognitive impairment 90% Hypothyroidism 90% Oral cleft 90% Pili torti 90% Polyhydramnios 90% Autosomal recessive inheritance - Bifid epiglottis - Cleft palate - Thyroid agenesis - 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 Larynx, congenital partial atresia of ?

Answer: What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. 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 voice 90% Laryngomalacia 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Short stature 50% Autosomal dominant inheritance - Laryngeal obstruction - Laryngeal web - 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 Familial pemphigus vulgaris ?

Answer: What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. 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) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - 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) Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) ?

Answer: Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement.
                
A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene.
                
NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).
Question: What is (are) FG syndrome ?

Answer: FG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.  FG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker.  The physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures).  Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).
Question: What are the genetic changes related to Nakajo-Nishimura syndrome ?

Answer: Nakajo-Nishimura syndrome is caused by mutations in the PSMB8 gene. This gene provides instructions for making one part (subunit) of specialized cell structures called immunoproteasomes, which are found primarily in immune system cells. Immunoproteasomes play an important role in regulating the immune system's response to foreign invaders, such as viruses and bacteria. One of the primary functions of immunoproteasomes is to help the immune system distinguish the body's own proteins from proteins made by foreign invaders, so the immune system can respond appropriately to infection.  Mutations in the PSMB8 gene greatly reduce the amount of protein produced from the PSMB8 gene, which impairs the normal assembly of immunoproteasomes and causes the immune system to malfunction. For unknown reasons, the malfunctioning immune system triggers abnormal inflammation that can damage the body's own tissues and organs; as a result, Nakajo-Nishimura syndrome is classified as an autoinflammatory disorder.  Abnormal inflammation likely underlies many of the signs and symptoms of Nakajo-Nishimura syndrome, including the nodular erythema, recurrent fevers, joint problems, and hepatosplenomegaly. It is less clear how mutations in the PSMB8 gene lead to muscle wasting and lipodystrophy. Studies suggest that the protein produced from the PSMB8 gene may play a separate role in the maturation of fat cells (adipocytes), and a shortage of this protein may interfere with the normal development and function of these cells.
Question: What is (are) Quitting Smoking for Older Adults ?

Answer: One of the keys to successfully quitting is preparation. A great way to prepare to quit smoking is to create a quit plan. Quit plans - keep you focused on quit smoking strategies that can help you be confident and motivated to quit   - help you identify challenges you will face as you quit and ways to overcome them   -  can improve your chances of quitting smoking for good.  keep you focused on quit smoking strategies that can help you be confident and motivated to quit help you identify challenges you will face as you quit and ways to overcome them can improve your chances of quitting smoking for good. Use these steps to create your own customized quit plan. Pick a Quit Date. Make a list of reasons to quit. Decide where you will get support. Decide on your Quit methods. Plan how to avoid your triggers. Plan how to overcome cravings and urges. Decide how to reward yourself after certain milestones. Plan what to do the day before your Quit Date. Here are some quit plan resources. -  Check out  Worksheets for Your Quit Plan on this website.   -  See "Start Your Quit Plan Online Today" at  SmokeFree 60Plus, a quit-smoking website from the National Cancer Institute.  -  Learn about the  Quit Guide from the Centers from Disease Control and Prevention (CDC).  Check out  Worksheets for Your Quit Plan on this website. See "Start Your Quit Plan Online Today" at  SmokeFree 60Plus, a quit-smoking website from the National Cancer Institute. Learn about the  Quit Guide from the Centers from Disease Control and Prevention (CDC).
Question: What are the symptoms of Spinocerebellar ataxia 4 ?

Answer: What are the signs and symptoms of Spinocerebellar ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 4. 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) Areflexia - Autosomal dominant inheritance - Babinski sign - Cerebellar atrophy - Distal sensory impairment - Dysarthria - Hyporeflexia - Impaired smooth pursuit - Limb dysmetria - Progressive cerebellar ataxia - Sensory neuropathy - 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 Small patella syndrome ?

Answer: What are the signs and symptoms of Small patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Small patella 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) Patellar aplasia 90% Abnormality of the hip bone 50% Autosomal dominant inheritance - Cleft palate - Flat capital femoral epiphysis - High palate - Hypoplasia of the lesser trochanter - Patellar dislocation - Patellar hypoplasia - Pes planus - Sandal gap - Wide capital femoral epiphyses - 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 Dyssynergia cerebellaris myoclonica ?

Answer: What are the signs and symptoms of Dyssynergia cerebellaris myoclonica? The Human Phenotype Ontology provides the following list of signs and symptoms for Dyssynergia cerebellaris myoclonica. 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 seizures 7.5% Abnormality of the dentate nucleus - Abnormality of the mitochondrion - Ataxia - Autosomal dominant inheritance - Intention tremor - Myoclonus - Pallidal degeneration - Ragged-red muscle fibers - 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 treatments for Menetrier disease ?

Answer: What treatment is available for Mntrier disease? No one treatment has proven effective for all patients with Mntrier disease; however, some benefit has been shown through the use of anticholinergic drugs, acid suppression, octreotide, and H. pylori eradication. Partial or complete removal of the stomach is generally recommended for those patients who continue to have protein loss or who have signs of pre-cancer or cancer. You can locate additional treatment information by searching PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here.  Some articles are available as a complete document, while information on other studies is available as a summary abstract.  To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "menetrier disease AND treatment" as your search term should locate articles. To narrow your search, click on the Limits tab under the search box and specify your criteria for locating more relevant articles.  Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Question: What are the symptoms of Lissencephaly 1 ?

Answer: What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 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) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - 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 Premature aging Okamoto type ?

Answer: 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.
Question: What are the symptoms of Renal dysplasia diffuse cystic ?

Answer: What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. 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) Vesicoureteral reflux 5% Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital onset - Cystic renal dysplasia - Hyperechogenic kidneys - Pulmonary hypoplasia - Renal dysplasia - Renal insufficiency - 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.