fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Congenital intrauterine infection-like syndrome ?
What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-like 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) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - 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. + GARD + Congenital intrauterine infection-like syndrome
What are the symptoms of Focal facial dermal dysplasia ?
What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the eye 90% Abnormality of the musculature 90% Aplasia/Hypoplasia of the skin 90% Atypical scarring of skin 90% Irregular hyperpigmentation 90% Abnormality of the eyebrow 50% Abnormality of the mouth 50% Depressed nasal bridge 50% Palpebral edema 50% Pointed chin 50% Autosomal dominant inheritance - Decreased subcutaneous fat - 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 + Focal facial dermal dysplasia
What is (are) Henoch-Schonlein purpura ?
Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in children, but it may affect people of any age. Most cases go away on their own without treatment. For those cases which require treatment, the main goal is to relieve symptoms such as joint pain, abdominal pain, or swelling. In many cases, over-the-counter medicines can be used. In some patients with severe arthritis, prednisone, a steroid medicine, may be prescribed. + GARD + Henoch-Schonlein purpura
What are the symptoms of Henoch-Schonlein purpura ?
What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. 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) Abdominal pain 90% Arthralgia 90% Bruising susceptibility 90% Gastrointestinal infarctions 90% Hematuria 90% Nausea and vomiting 90% Pustule 90% Skin rash 90% Vasculitis 90% Abnormal tendon morphology 50% Abnormality of temperature regulation 50% Anorexia 50% Arthritis 50% Encephalitis 50% Migraine 50% Myalgia 50% Orchitis 50% Skin ulcer 50% Edema 7.5% Gastrointestinal hemorrhage 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammatory abnormality of the eye 7.5% Muscle weakness 7.5% Optic atrophy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Seizures 7.5% Urticaria 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Henoch-Schonlein purpura
Is Henoch-Schonlein purpura inherited ?
Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown.  Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases.  Only a few families with multiple relatives affected by HSP have been reported in the medical literature.  The association between particular genes and a slight increase in the chance of developing HSP has not been proven. + GARD + Henoch-Schonlein purpura
What are the treatments for Henoch-Schonlein purpura ?
What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP).  Treatments aim to relieve the symptoms of this condition.  For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain.  If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed.  In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems. + GARD + Henoch-Schonlein purpura
What are the symptoms of Follicle-stimulating hormone deficiency, isolated ?
What are the signs and symptoms of Follicle-stimulating hormone deficiency, isolated? The Human Phenotype Ontology provides the following list of signs and symptoms for Follicle-stimulating hormone deficiency, isolated. 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) Decreased muscle mass 5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Decreased testicular size - Delayed skeletal maturation - Infertility - Primary amenorrhea - 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 + Follicle-stimulating hormone deficiency, isolated
What is (are) Ulcerative proctitis ?
Ulcerative proctitis is a type of ulcerative colitis that affects the rectum. The symptoms of this form of proctitis may include bleeding from the rectum, the need to go to the bathroom frequently, tenesmus, diarrhea or constipation, and rectal pain. People with ulcerative proctitis tend to have episodes when the symptoms worsen and periods without symptoms, although the course of the disease varies among affected individuals. Treatment involves applying 5-aminosalicylic acid (5-ASA) or steroid creams to the rectum. In some cases, an oral version of 5-ASA is used to prevent episodes. + GARD + Ulcerative proctitis
What is (are) Common variable immunodeficiency ?
Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies against agents that cause infection (such as bacteria). CVID is characterized by low levels of most or all of the immunoglobulin (Ig) classes. This causes affected people to get frequent infections, particularly in the sinuses, lungs, and digestive tract. Symptoms most commonly begin in early adulthood but have been found in children as young as age two. While in most cases the cause of CVID is unknown, it has been associated with changes (mutations) in at least 10 genes. About 10% of cases are due to mutations in the TNFRSF13B gene. Treatment for CVID includes Ig replacement therapy, which stops the cycle of recurrent infections. + GARD + Common variable immunodeficiency
What are the symptoms of Common variable immunodeficiency ?
What are the signs and symptoms of Common variable immunodeficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Common variable immunodeficiency. 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) Decreased antibody level in blood 90% Lymphopenia 90% Otitis media 90% Recurrent respiratory infections 90% Sinusitis 90% Thrombocytopenia 90% Abnormality of the bronchi 50% Elevated hepatic transaminases 50% Hemolytic anemia 50% Lymphadenopathy 50% Malabsorption 50% Splenomegaly 50% Subcutaneous hemorrhage 50% Arthralgia 7.5% Emphysema 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the stomach 7.5% Restrictive lung disease 7.5% Vasculitis 7.5% Autoimmune neutropenia 5% Autosomal recessive inheritance - B lymphocytopenia - Bronchiectasis - Conjunctivitis - Diarrhea - Hepatomegaly - IgA deficiency - IgG deficiency - IgM deficiency - Immunodeficiency - Impaired T cell function - Recurrent bacterial infections - Recurrent bronchitis - Recurrent otitis media - Recurrent pneumonia - Recurrent sinusitis - 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 + Common variable immunodeficiency
What causes Common variable immunodeficiency ?
What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner. + GARD + Common variable immunodeficiency
What are the treatments for Common variable immunodeficiency ?
How might common variable immunodeficiency be treated?  The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site. + GARD + Common variable immunodeficiency
What are the symptoms of Mannosidosis, beta A, lysosomal ?
What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. 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 facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - 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 + Mannosidosis, beta A, lysosomal
What are the symptoms of SLC4A1-associated distal renal tubular acidosis ?
What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. 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 dominant inheritance - Autosomal recessive inheritance - Distal renal tubular acidosis - Failure to thrive - Hypocalcemia - Metabolic acidosis - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - Rickets - 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 + SLC4A1-associated distal renal tubular acidosis
What is (are) Familial hyperinsulinism ?
Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern. + GARD + Familial hyperinsulinism
What are the symptoms of Familial hyperinsulinism ?
What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - 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 + Familial hyperinsulinism
What is (are) Septo-optic dysplasia ?
Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance. + GARD + Septo-optic dysplasia