fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Immune defect due to absence of thymus ?
What are the signs and symptoms of Immune defect due to absence of thymus? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune defect due to absence of thymus. 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 - Bronchiectasis - Chronic diarrhea - Eczematoid dermatitis - Emphysema - Failure to thrive - Hepatosplenomegaly - Lymphopenia - Metaphyseal dysostosis - Pyoderma - Recurrent bronchopulmonary infections - Recurrent pneumonia - Reduced delayed hypersensitivity - 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 + Immune defect due to absence of thymus
What is (are) Polymyositis ?
Polymyositis is a type of inflammatory myopathy, which refers to a group of muscle diseases characterized by chronic muscle inflammation and weakness. It involves skeletal muscles (those involved with making movement) on both sides of the body. Although it can affect people of all ages, most cases are seen in adults between the ages of 31 and 60. The exact cause of polymyositis is unknown; however, the disease shares many characteristics with autoimmune disorders which occur when the immune system mistakenly attacks healthy body tissues. It some cases, the condition may be associated with viral infections, malignancies, or connective tissue disorders. Although there is no cure for polymyositis, treatment can improve muscle strength and function. + GARD + Polymyositis
What are the symptoms of Polymyositis ?
What are the symptoms of polymyositis? Polymyositis is characterized by chronic muscle inflammation and weakness involving the skeletal muscles (those involved with making movement) on both sides of the body. Weakness generally starts in the proximal muscles which can eventually cause difficulties climbing stairs, rising from a sitting position, lifting objects, or reaching overhead. In some cases, distal muscles may also be affected as the disease progresses. Other symptoms may include arthritis; shortness of breath; difficulty swallowing and speaking; mild joint or muscle tenderness; fatigue, and heart arrhythmias. + GARD + Polymyositis
How to diagnose Polymyositis ?
How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource. + GARD + Polymyositis
What are the treatments for Polymyositis ?
How might polymyositis be treated? The treatment of polymyositis is based on the signs and symptoms present in each person. Although there is currently no cure, symptoms of the condition may be managed with the following: Medications such as corticosteroids, corticosteroid-sparing agents, immunosuppressive drugs Physical therapy to improve muscle strength and flexibility Speech therapy to address difficulties with swallowing and speech Intravenous immunoglobulin (healthy antibodies are given to block damaging autoantibodies that attack muscle) Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access the resource. + GARD + Polymyositis
What is (are) Erythema nodosum, idiopathic ?
Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the layer of fat under the skin (panniculitis). Other symptoms that may accompany the skin findings include the following: fever, a general feeling of being ill. joint aches, and swelling of the affected area. In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases. In many cases, however, EN has no identifiable cause (idiopathic); in these cases, clinical follow-up is needed to rule out certain conditions including inflammatory bowel disease, sarcoidosis, lymphoma, and Behcet's disease. Treatment may include rest, nonsteroidal anti-inflammatory drugs (NSAIDS), steroids, hot or cold compresses, potassium iodide solution, and supportive bandages or compression stockings. Symptoms usually resolve within six weeks, but EN may become a chronic disorder lasting for months and, occasionally, for years. Approximately 30% cases of idiopathic EN may last more than 6 months. + GARD + Erythema nodosum, idiopathic
What is (are) BOD syndrome ?
BOD syndrome is a genetic condition characterized by underdeveloped pinky toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and short stature. The cause of the condition is not known. BOD syndrome is thought to be inherited in an autosomal dominant fashion, however in many cases the condition occurs for the first time in a family due to a new mutation. Signs and symptoms of BOD syndrome are similar to, albeit milder than that of, Coffin-Siris syndrome. The relationship between these syndromes is presently unknown. + GARD + BOD syndrome
What are the symptoms of BOD syndrome ?
What are the signs and symptoms of BOD syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for BOD 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 fingernails 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Aplastic/hypoplastic toenail 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Long philtrum 90% Microcephaly 90% Short distal phalanx of finger 90% Short stature 90% Wide nasal bridge 90% Abnormal nasal morphology 50% Epicanthus 50% Frontal bossing 50% Hypoplasia of the zygomatic bone 50% Intrauterine growth retardation 50% Narrow forehead 50% Pointed chin 50% Strabismus 50% Triangular face 50% Wide mouth 50% Abnormality of the mitral valve 7.5% Abnormality of the respiratory system 7.5% Atria septal defect 7.5% Clinodactyly of the 5th finger 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% High anterior hairline 7.5% Hypertrichosis 7.5% Symphalangism affecting the phalanges of the hand 7.5% Thick eyebrow 7.5% Umbilical hernia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Congenital cystic adenomatoid malformation of the lung - Nail dysplasia - Short distal phalanx of the 5th finger - Short middle phalanx of the 5th finger - Wide nose - 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 + BOD syndrome
What are the symptoms of Spastic paraplegia 39 ?
What are the signs and symptoms of Spastic paraplegia 39? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 39. 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) Ataxia 5% Cerebellar atrophy 5% Atrophy of the spinal cord - Autosomal recessive inheritance - Babinski sign - Distal amyotrophy - Distal lower limb muscle weakness - Gait disturbance - Hyperreflexia - Progressive spastic paraplegia - 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 + Spastic paraplegia 39
What are the symptoms of Midphalangeal hair ?
What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. 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 hair - 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. + GARD + Midphalangeal hair
What is (are) Osteomesopyknosis ?
Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in young adults complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified. It is generally benign and life expectancy is normal. + GARD + Osteomesopyknosis
What are the symptoms of Osteomesopyknosis ?
What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in affected people is normal. There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteomesopyknosis. 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) Increased bone mineral density 90% Abnormal form of the vertebral bodies 50% Kyphosis 50% Scoliosis 50% Abnormal cortical bone morphology 7.5% Abnormality of metabolism/homeostasis 7.5% Autosomal dominant inheritance - Infertility - Low back pain - 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 + Osteomesopyknosis
Is Osteomesopyknosis inherited ?
How is osteomesopyknosis inherited? Osteomesopyknosis is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene (which has not yet been identified) is enough to cause signs or symptoms of the disorder. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected. There have been reported cases where both parents of an affected person did not appear to have the condition. The chance of having signs and symptoms when the responsible mutation is present (penetrance), and potential nature of signs and symptoms (expressivity), is not clear. + GARD + Osteomesopyknosis
What is (are) Lymphomatoid papulosis ?
Lymphomatoid papulosis is a skin disorder that is characterized by crops of self healing skin lesions that look cancerous under the microscope but are actually benign (non-cancerous). Lesions contain unusual cells that are similar to those found in some lymphomas (cancers of the lymphatic system). + GARD + Lymphomatoid papulosis
What are the symptoms of Lymphomatoid papulosis ?
What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. They may develop into blood or pus-filled blisters that break and form a crusty sore before healing completely. Lesions tend to spontaneously heal with or without scarring within 2-8 weeks of appearing. + GARD + Lymphomatoid papulosis
What causes Lymphomatoid papulosis ?
What causes lymphomatoid papulosis? The cause of lymphomatoid papulosis is unknown, but it is associated with a proliferation of atypical T-cells. T-cells are specific white blood cells involved in immune responses. + GARD + Lymphomatoid papulosis
What are the treatments for Lymphomatoid papulosis ?
How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. Low-dose weekly methotrexate has been used to suppress the condition with some success, however the treatment effects are not lasting. Oral psoralen plus UVA phototherapy may also effectively treat and suppresses the disease. A few reports have found that following treatments may also help with disease suppression: Topical carmustine Topical nitrogen mustard Topical MTX Topical imiquimod cream Intralesional interferon Low-dose cyclophosphamide Chlorambucil Medium-dose UVA-1 therapy Excimer laser therapy Dapsone + GARD + Lymphomatoid papulosis
What are the symptoms of Bowen syndrome ?
What are the signs and symptoms of Bowen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bowen 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 cardiovascular system morphology - Abnormality of the ear - Agenesis of corpus callosum - Autosomal recessive inheritance - Congenital glaucoma - Death in childhood - Failure to thrive - Feeding difficulties in infancy - Hypospadias - 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 + Bowen syndrome
What is (are) Factor XI deficiency ?
Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. The condition is generally inherited in an autosomal recessive manner; however, it may follow an autosomal dominant pattern in some families. Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries. + GARD + Factor XI deficiency
What are the symptoms of Factor XI deficiency ?
What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI 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) Abnormal bleeding - Autosomal dominant inheritance - Autosomal recessive inheritance - Prolonged partial thromboplastin time - Reduced factor XI activity - 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 + Factor XI deficiency
What is (are) Rh deficiency syndrome ?
The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene .  The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. + GARD + Rh deficiency syndrome