fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Complement component 2 deficiency ?
What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 deficiency. 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 - Purpura - Systemic lupus erythematosus - 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. + GARD + Complement component 2 deficiency
What is (are) CREST syndrome ?
CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease.     (C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result.   (R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.   (E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation.   (S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss.   (T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems.   It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease. Some doctors believe only two of the five are necessary for a diagnosis. + GARD + CREST syndrome
What are the symptoms of CREST syndrome ?
What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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. + GARD + CREST syndrome
What causes CREST syndrome ?
What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors. + GARD + CREST syndrome
How to diagnose CREST syndrome ?
How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions  such as polymyositis, lupus and rheumatoid arthritis.   A blood sample can be tested for antibodies that are frequently found in the blood of people with limited scleroderma. But this isn't a definitive test because not everyone with limited scleroderma has these antibodies. Sometimes doctors take a small sample of skin that's then examined under a microscope in a laboratory. Biopsies can be helpful, but they can't definitively diagnose limited scleroderma either.  Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted. + GARD + CREST syndrome
What are the symptoms of NADH cytochrome B5 reductase deficiency ?
What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase deficiency. 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 - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - 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. + GARD + NADH cytochrome B5 reductase deficiency
What is (are) Glucose-6-phosphate dehydrogenase deficiency ?
Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which helps red blood cells work properly. G6PD deficiency is more likely to occur in males, particularly African Americans, and those from certain parts of Africa, Asia, and the Mediterranean. This condition is inherited in an X-linked recessive manner and is caused by mutations in the G6PD gene. Treatment may involve medicines to treat an infection, stopping drugs that are causing red blood cell destruction, and/or transfusions, in some cases. + GARD + Glucose-6-phosphate dehydrogenase deficiency
What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ?
What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common. + GARD + Glucose-6-phosphate dehydrogenase deficiency
What causes Glucose-6-phosphate dehydrogenase deficiency ?
What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency?  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency. + GARD + Glucose-6-phosphate dehydrogenase deficiency
Is Glucose-6-phosphate dehydrogenase deficiency inherited ?
How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of the gene in each cell is enough to cause the condition because they don't have another X chromosome with a normal copy of the gene. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Fathers cannot pass X-linked traits to their sons. + GARD + Glucose-6-phosphate dehydrogenase deficiency
What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ?
How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses. + GARD + Glucose-6-phosphate dehydrogenase deficiency
What are the symptoms of Amish lethal microcephaly ?
What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. 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) Aplasia/Hypoplasia of the cerebellum 90% Behavioral abnormality 90% Cognitive impairment 90% Microcephaly 90% Optic atrophy 90% Sloping forehead 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertonia 50% Muscular hypotonia 50% Reduced bone mineral density 50% Spina bifida 50% Ventriculomegaly 50% Abnormality of the soft palate 7.5% Decreased skull ossification 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Prenatal movement abnormality 7.5% Seizures 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Congenital onset - Flexion contracture - Irritability - Lactic acidosis - Limb hypertonia - Muscular hypotonia of the trunk - Partial agenesis of the corpus callosum - Progressive microcephaly - 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. + GARD + Amish lethal microcephaly
What are the symptoms of Paine syndrome ?
What are the signs and symptoms of Paine syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Paine 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) Generalized myoclonic seizures - Microcephaly - Olivopontocerebellar hypoplasia - Spastic diplegia - 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. + GARD + Paine syndrome
What are the symptoms of Thumb stiff brachydactyly mental retardation ?
What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental 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) Abnormality of the metacarpal bones 90% Abnormality of the thumb 90% Cognitive impairment 90% Limitation of joint mobility 90% Obesity 50% Autosomal dominant inheritance - Intellectual disability - Type A1 brachydactyly - 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. + GARD + Thumb stiff brachydactyly mental retardation
What is (are) Acanthoma ?
An acanthoma is a small, reddish bump that usually develops on the skin of an older adult.  There are several types of acanthoma, including "acantholytic", "epidermolytic", "clear cell", and "melanoacanthoma".  Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many.  The exact cause of acanthoma is not known; it is sometimes called a benign tumor, and sometimes described as the result of inflammation.  Acanthomas are not considered dangerous and do not require treatment, but they may be removed for cosmetic reasons or to relieve any associated symptoms. + GARD + Acanthoma
What are the treatments for Acanthoma ?
How might an acanthoma be treated? Acanthomas are considered benign, but treatment may be done for cosmetic reasons or to relieve any associated symptoms.  Because acanthomas are quite rare, there are no established guidelines for treatment.  Treatment may depend on the type, number, and location of acanthomas.  For example, a single acanthoma may be removed by surgery, whereas multiple acanthomas may be treated with cryosurgery or the use of the medication fluorouracil cream. + GARD + Acanthoma
What is (are) Baller-Gerold syndrome ?
Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders.  Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms. + GARD + Baller-Gerold syndrome
What are the symptoms of Saccharopinuria ?
What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. 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 - EEG abnormality - Histidinuria - Hyperlysinuria - Intellectual disability - Short stature - Spastic diplegia - 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. + GARD + Saccharopinuria
What is (are) Frontal fibrosing alopecia ?
Frontal fibrosing alopecia (FFA) is a form of lichen planus follicularis that is characterized primarily by slowly progressive hair loss (alopecia) and scarring on the scalp near the forehead. In some cases, the eyebrows, eye lashes and/or other parts of the body may be involved, as well. Although it has been suggested that FFA may be due to hormonal changes or an autoimmune response, the exact cause of this condition is not yet known. There is currently no cure for FFA; however, treatment with certain types of medications may stop or slow hair loss in some cases. + GARD + Frontal fibrosing alopecia