fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Birt-Hogg-Dube syndrome ?
What are the signs and symptoms of Birt-Hogg-Dube syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Birt-Hogg-Dube 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 skin 90% Emphysema 90% Abnormality of retinal pigmentation 50% Multiple lipomas 50% Neoplasm of the gastrointestinal tract 7.5% Neoplasm of the parathyroid gland 7.5% Neoplasm of the thyroid gland 7.5% Renal neoplasm 7.5% Salivary gland neoplasm 7.5% Abnormality of the abdomen - Abnormality of the hair - Autosomal dominant inheritance - Fibrofolliculoma - Renal cell carcinoma - Renal cyst - Spontaneous pneumothorax - 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 + Birt-Hogg-Dube syndrome
What are the treatments for Birt-Hogg-Dube syndrome ?
How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs.  There is no recommended management of the lung cysts.  Lung cysts related to BHD have not been associated with long-term disability or fatality.  The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax). If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan.  Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions.  It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking. Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist). + GARD + Birt-Hogg-Dube syndrome
What is (are) Blue rubber bleb nevus syndrome ?
Blue rubber bleb nevus syndrome is a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines).  The malformed blood vessels appear as a spot or lesion called a nevus.  The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person.  Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis).  Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas. + GARD + Blue rubber bleb nevus syndrome
What causes Blue rubber bleb nevus syndrome ?
What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known. + GARD + Blue rubber bleb nevus syndrome
What are the treatments for Blue rubber bleb nevus syndrome ?
How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary. Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage). + GARD + Blue rubber bleb nevus syndrome
What are the symptoms of Histidinemia ?
What are the signs and symptoms of Histidinemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Histidinemia. 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) Behavioral abnormality 5% Neurological speech impairment 5% Intellectual disability 1% Autosomal recessive inheritance - Histidinuria - Hyperhistidinemia - 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 + Histidinemia
What is (are) Klumpke paralysis ?
Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand.  Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia,), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months. + GARD + Klumpke paralysis
What are the treatments for Klumpke paralysis ?
How might Klumpke paralysis be treated? The  affected arm may be immobilized across the body for 7 to 10 days. For mild cases gentle massage of the arm and range-of-motion exercises may be recommended. For torn nerves (avulsion and rupture injuries), symptoms may improve with surgery.    Most infants recover from neuropraxia within 4 months. Parents or guardians of infants that show no evidence of spontaneous recovery at 4 months, may be counseled regarding additional treatment options. These treatment options may include: Surgery on the nerves (e.g., nerve grafts and neuroma excision) Tendon transfers to help the muscles that are affected by nerve damage work better + GARD + Klumpke paralysis
What is (are) Optic atrophy 1 ?
Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. Treatment focuses on individual symptoms when possible. + GARD + Optic atrophy 1
What are the symptoms of Optic atrophy 1 ?
What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Strabismus 10% Horizontal nystagmus 5% Progressive external ophthalmoplegia 48/104 Proximal muscle weakness 37/104 Ataxia 31/104 Abnormal amplitude of pattern reversal visual evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Incomplete penetrance - Insidious onset - Optic atrophy - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - Visual impairment - 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 + Optic atrophy 1
What is (are) MYH-associated polyposis ?
MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene. + GARD + MYH-associated polyposis
What are the symptoms of MYH-associated polyposis ?
What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. 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) Colon cancer 5/12 Adenomatous colonic polyposis - Autosomal recessive 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 + MYH-associated polyposis
What causes MYH-associated polyposis ?
What causes MYH-associated polyposis? Mutations in the MYH gene cause MYH-associated polyposis. Mutations in this gene prevent cells from correcting mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. As these mistakes build up in a person's DNA, the likelihood of cell overgrowth increases, leading to colon polyps and the possibility of colon cancer. + GARD + MYH-associated polyposis
What are the symptoms of Crome syndrome ?
What are the signs and symptoms of Crome syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crome 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 renal tubule 90% Aplasia/Hypoplasia of the cerebellum 90% Cataract 90% Cognitive impairment 90% Encephalitis 90% Seizures 90% Nystagmus 50% Acute tubular necrosis - Autosomal recessive inheritance - Cerebellar dysplasia - Congenital cataract - Encephalopathy - Intellectual disability - Short stature - 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 + Crome syndrome
What are the symptoms of Auriculo-condylar syndrome ?
What are the signs and symptoms of Auriculo-condylar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Auriculo-condylar 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) Narrow mouth 52% Glossoptosis 46% Stenosis of the external auditory canal 30% Anterior open-bite malocclusion - Apnea - Autosomal dominant inheritance - Chewing difficulties - Cleft at the superior portion of the pinna - Cleft palate - Cupped ear - Dental crowding - Dental malocclusion - Hypoplastic superior helix - Low-set ears - Macrocephaly - Mandibular condyle aplasia - Mandibular condyle hypoplasia - Overfolding of the superior helices - Postauricular skin tag - Posteriorly rotated ears - Preauricular skin tag - Round face - Speech articulation difficulties - 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 + Auriculo-condylar syndrome
What are the symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch ?
What are the signs and symptoms of Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch. 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) Absent scaphoid - Absent trapezium - Absent trapezoid bone - Anonychia - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Cone-shaped epiphyses of the middle phalanges of the hand - Distal symphalangism (feet) - Distal symphalangism (hands) - Microdontia - Pulp stones - Short distal phalanx of finger - Short middle phalanx of finger - Short phalanx of finger - Small nail - 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 + Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
What is (are) Warm antibody hemolytic anemia ?
Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of  autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatigue, difficulty breathing, jaundice and dark urine. In severe disease, fever, chest pain, syncope or heart failure may occur. Hemolysis (the breakdown of red blood cells) occurs mainly in the spleen, so mild splenomegaly is relatively common. Treatment typically involves a corticosteroid like prednisone. In cases that don't respond to treatment, splenectomy may be considered. Chronic and severe disease may be treated with Rituximab or immunosuppressive medications. + GARD + Warm antibody hemolytic anemia
What are the symptoms of Warm antibody hemolytic anemia ?
What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. 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 erythrocytes 90% Autoimmunity 90% Migraine 90% Pallor 90% Arthralgia 50% Hematological neoplasm 50% Skin rash 50% Abnormality of temperature regulation 7.5% Abnormality of the liver 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 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 + Warm antibody hemolytic anemia
What are the symptoms of Snowflake vitreoretinal degeneration ?
What are the signs and symptoms of Snowflake vitreoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. 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 - Cataract - Vitreoretinal degeneration - 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 + Snowflake vitreoretinal degeneration