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

Answer: What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink 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) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - 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.
Question: What is (are) Gout ?

Answer: Sudden, Intense Joint Pain Gout is a form of arthritis that causes the sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Early attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Where Gout Usually Occurs Sometime during the course of the disease, many patients will develop gout in the big toe. Gout frequently affects joints in the lower part of the body such as the ankles, heels, knees, or toes. Who is at Risk? Adult men, particularly those between the ages of 40 and 50, are more likely to develop gout than women, who rarely develop the disease before menstruation ends. A Buildup of Uric Acid Before an attack, needle-like crystals of uric acid build up in connective tissue, in the joint space between two bones, or in both. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods. Normally, uric acid is dissolved in the blood and passed through the kidneys into the urine, where it is eliminated. If there is an increase in the production of uric acid or if the kidneys do not eliminate enough uric acid from the body, levels of it build up in the blood (a condition called hyperuricemia). Hyperuricemia also may result when a person eats too many high-purine foods, such as liver, dried beans and peas, anchovies, and gravies. Hyperuricemia is not a disease, and by itself it is not dangerous. However, if too many uric acid crystals form as a result of hyperuricemia, gout can develop. The crystals form and build up in the joint, causing inflammation. Stages of Gout Gout can progress through four stages. Asymptomatic (without symptoms) hyperuricemia. In this stage, a person has elevated levels of uric acid in the blood (hyperuricemia), but no other symptoms. Treatment is usually not required. Acute gout, or acute gouty arthritis. In this stage, hyperuricemia has caused uric acid crystals to build up in joint spaces. This leads to a sudden onset of intense pain and swelling in the joints, which also may be warm and very tender. An acute (sudden) attack commonly occurs at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Over time, however, attacks can last longer and occur more frequently. Interval or intercritical gout. This is the period between acute attacks. In this stage, a person does not have any symptoms. Chronic tophaceous (toe FAY shus) gout. This is the most disabling stage of gout. It usually develops over a long period, such as 10 years. In this stage, the disease may have caused permanent damage to the affected joints and sometimes to the kidneys. With proper treatment, most people with gout do not progress to this advanced stage.
Question: What is (are) Aicardi-Goutieres Syndrome Disorder ?

Answer: Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection.
                
Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease.
                
AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS.
                
The mutations of four different genes are associated with AGS:
                
- Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene.
                
Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS.
                
NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).
Question: What is (are) Diabetes ?

Answer: Heart disease and stroke are the leading causes of death for people with diabetes. Controlling the ABCs of diabetes -- your blood glucose, your blood pressure, and your cholesterol, as well as stopping smoking -- can help prevent these and other complications from diabetes. -  A is for the A1C test  -  B is for Blood pressure  -  C is for Cholesterol. A is for the A1C test B is for Blood pressure C is for Cholesterol. - The A1C test (A-one-C) shows you what your blood glucose has been over the last three months. Your health care provider does this test to see what your blood glucose level is most of the time. This test should be done at least twice a year for all people with diabetes and for some people more often as needed. For many people with diabetes, an A1C test result of under 7 percent usually means that their diabetes treatment is working well and their blood glucose is under control.  The A1C test (A-one-C) shows you what your blood glucose has been over the last three months. Your health care provider does this test to see what your blood glucose level is most of the time. This test should be done at least twice a year for all people with diabetes and for some people more often as needed. For many people with diabetes, an A1C test result of under 7 percent usually means that their diabetes treatment is working well and their blood glucose is under control. -  B is for Blood pressure. The goal for most people is 140/90 but may be different for you. High blood pressure makes your heart work too hard. It can cause heart attack, stroke, and kidney disease. Your blood pressure should be checked at every doctor visit. Talk with your health care provider about your blood pressure goal.  B is for Blood pressure. The goal for most people is 140/90 but may be different for you. High blood pressure makes your heart work too hard. It can cause heart attack, stroke, and kidney disease. Your blood pressure should be checked at every doctor visit. Talk with your health care provider about your blood pressure goal. - C is for Cholesterol (ko-LES-ter-ol). The LDL goal for most people is less than 100. Low density lipoprotein, or LDL-cholesterol, is the bad cholesterol that builds up in your blood vessels. It causes the vessels to narrow and harden, which can lead to a heart attack. Your doctor should check your LDL at least once a year. Talk with your health care provider about your cholesterol goal.  C is for Cholesterol (ko-LES-ter-ol). The LDL goal for most people is less than 100. Low density lipoprotein, or LDL-cholesterol, is the bad cholesterol that builds up in your blood vessels. It causes the vessels to narrow and harden, which can lead to a heart attack. Your doctor should check your LDL at least once a year. Talk with your health care provider about your cholesterol goal. Ask your health care team - what your A1C, blood pressure, and cholesterol numbers are.  - what your ABCs should be.  - what you can do to reach your target.  what your A1C, blood pressure, and cholesterol numbers are. what your ABCs should be. what you can do to reach your target.
Question: What are the symptoms of Sialidosis type I ?

Answer: What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. 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 macula 90% Aminoaciduria 90% Coarse facial features 90% Delayed skeletal maturation 90% Gait disturbance 90% Hyperkeratosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Retinopathy 90% Scoliosis 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Splenomegaly 90% Thick lower lip vermilion 90% Visual impairment 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% EEG abnormality 50% Frontal bossing 50% Hernia 50% Morphological abnormality of the central nervous system 50% Muscular hypotonia 50% Skeletal muscle atrophy 50% Tremor 50% Cataract 7.5% Kyphosis 7.5% Ascites - Autosomal recessive inheritance - Bone-marrow foam cells - Cardiomegaly - Cardiomyopathy - Cherry red spot of the macula - Dysmetria - Dysostosis multiplex - Epiphyseal stippling - Facial edema - Hepatomegaly - Hydrops fetalis - Hyperreflexia - Increased urinary O-linked sialopeptides - Inguinal hernia - Intellectual disability - Muscle weakness - Myoclonus - Progressive visual loss - Proteinuria - Slurred speech - Urinary excretion of sialylated oligosaccharides - Vacuolated lymphocytes - 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 Pseudoxanthoma elasticum ?

Answer: What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. 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 coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - 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 Single upper central incisor ?

Answer: What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - Variable expressivity - 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 Lipodystrophy, familial partial, type 2 ?

Answer: What are the signs and symptoms of Lipodystrophy, familial partial, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipodystrophy, familial partial, type 2. 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 lipid metabolism 90% Diabetes mellitus 90% Hepatomegaly 90% Insulin resistance 90% Lipoatrophy 90% Multiple lipomas 90% Round face 90% Skeletal muscle hypertrophy 90% Acute pancreatitis 75% Abnormality of the nail 50% Advanced eruption of teeth 50% Secondary amenorrhea 50% Thin skin 50% Abnormality of complement system 7.5% Acanthosis nigricans 7.5% Cellulitis 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Glomerulopathy 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Myalgia 7.5% Myopathy 7.5% Polycystic ovaries 7.5% Splenomegaly 7.5% Toxemia of pregnancy 7.5% Adipose tissue loss - Atherosclerosis - Autosomal dominant inheritance - Decreased subcutaneous fat - Enlarged peripheral nerve - Hirsutism - Hyperglycemia - Hyperinsulinemia - Hypertension - Hypertriglyceridemia - Hypoalphalipoproteinemia - Increased adipose tissue around the neck - Increased facial adipose tissue - Increased intraabdominal fat - Increased intramuscular fat - Insulin-resistant diabetes mellitus - Labial pseudohypertrophy - Loss of subcutaneous adipose tissue in limbs - Loss of truncal subcutaneous adipose tissue - Prominent superficial veins - Xanthomatosis - 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.