fenil210/Med-Lamma huggingface dataset:
What causes Fibrolamellar carcinoma ?
What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis. However, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. Recent research suggests that a deletion on chromosome 19 may play a key role in the formation of FLC. This deletion is called a "somatic mutation" since it is only present in the cells of the liver. Somatic mutations accumulate during a person's lifetime and are not inherited or passed on to future generations. + GARD + Fibrolamellar carcinoma
How to diagnose Fibrolamellar carcinoma ?
How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC. Medscape Reference's Web site offers more specific information on the diagnosis of FLC. Please click on the link to access this resource. + GARD + Fibrolamellar carcinoma
What are the treatments for Fibrolamellar carcinoma ?
How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be considered if surgical resection isn't an option. For example, liver transplantation may be considered in patients who are not candidates for partial resection (removing a portion of the liver). Medscape Reference's Web site offers more specific information on the treatment and management of FLC. Please click the link to access this resource. + GARD + Fibrolamellar carcinoma
What are the symptoms of Leber congenital amaurosis 16 ?
What are the signs and symptoms of Leber congenital amaurosis 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 16. 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 5% Autosomal recessive inheritance - Cataract - Nyctalopia - Nystagmus - Reduced visual acuity - 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 + Leber congenital amaurosis 16
What is (are) GM1 gangliosidosis type 1 ?
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive. + GARD + GM1 gangliosidosis type 1
What are the symptoms of GM1 gangliosidosis type 1 ?
What are the signs and symptoms of GM1 gangliosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for GM1 gangliosidosis type 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) Cherry red spot of the macula 50% Abnormality of the heart valves - Abnormality of the urinary system - Angiokeratoma corporis diffusum - Autosomal recessive inheritance - Beaking of vertebral bodies - Cerebral degeneration - Coarse facial features - Congestive heart failure - Death in infancy - Decreased beta-galactosidase activity - Depressed nasal ridge - Dilated cardiomyopathy - Frontal bossing - Gingival overgrowth - Hepatomegaly - Hypertelorism - Hypertrichosis - Hypertrophic cardiomyopathy - Hypoplastic vertebral bodies - Inguinal hernia - Intellectual disability - Joint stiffness - Kyphosis - Scoliosis - Severe short stature - Short neck - Splenomegaly - Thickened ribs - Vacuolated lymphocytes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + GM1 gangliosidosis type 1
What is (are) Sjogren syndrome ?
Sjgren syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Treatment is symptomatic and supportive and may include moisture replacement therapies, nonsteroidal anti-inflammatory drugs and, in severe cases, corticosteroids or immunosuppressive drugs. + GARD + Sjogren syndrome
What are the symptoms of Sjogren syndrome ?
What are the signs and symptoms of Sjogren syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren 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) Arthralgia 90% Arthritis 90% Autoimmunity 90% Dry skin 90% Increased antibody level in blood 90% Keratoconjunctivitis sicca 90% Xerostomia 90% Abnormality of temperature regulation 50% Abnormality of the gastric mucosa 50% Abnormality of the pharynx 50% Acrocyanosis 50% Carious teeth 50% Corneal erosion 50% Diplopia 50% Feeding difficulties in infancy 50% Furrowed tongue 50% Myalgia 50% Opacification of the corneal stroma 50% Paresthesia 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Recurrent respiratory infections 50% Sinusitis 50% Sleep disturbance 50% Visual impairment 50% Abnormal tendon morphology 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Abnormality of the sense of smell 7.5% Alopecia 7.5% Arrhythmia 7.5% Asthma 7.5% Atelectasis 7.5% Cerebral ischemia 7.5% Chronic obstructive pulmonary disease 7.5% Conductive hearing impairment 7.5% Cryoglobulinemia 7.5% Cutis marmorata 7.5% Diabetes insipidus 7.5% Epistaxis 7.5% Facial palsy 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hepatomegaly 7.5% Hypercalciuria 7.5% Hypokalemia 7.5% Leukopenia 7.5% Lymphoma 7.5% Malabsorption 7.5% Meningitis 7.5% Microcytic anemia 7.5% Myositis 7.5% Nephrolithiasis 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Ophthalmoparesis 7.5% Otitis media 7.5% Pancreatitis 7.5% Photophobia 7.5% Proteinuria 7.5% Ptosis 7.5% Pulmonary hypertension 7.5% Reduced bone mineral density 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Salivary gland neoplasm 7.5% Seizures 7.5% Splenomegaly 7.5% Subcutaneous hemorrhage 7.5% Thrombocytopenia 7.5% Thyroiditis 7.5% Urticaria 7.5% Vasculitis 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Rheumatoid arthritis - 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 + Sjogren syndrome
What causes Sjogren syndrome ?
What causes Sjogren syndrome? Sjogren syndrome likely results from a combination of genetic and environmental factors (multifactorial). Several different genes appear to affect the risk of developing the condition, however, specific genes have yet to be confirmed. Simply having one of these genes does not cause a person to develop the disease; some sort of trigger is also needed. That trigger may be a viral or bacterial infection. The genetic variations that increase susceptibility may reduce the body's ability to turn off the immune response when it is no longer needed. The possibility that the endocrine and nervous systems may play a role in the disease is also under investigation. + GARD + Sjogren syndrome
Is Sjogren syndrome inherited ?
Is Sjogren syndrome inherited? A genetic predisposition to Sjogren syndrome has been suggested. Familial clustering of different autoimmune diseases as well as co-association of multiple autoimmune diseases in individuals have frequently been reported. Some studies have shown up to 30% of people with Sjogren syndrome have relatives with autoimmune diseases. While the relatives of people with Sjogren syndrome are at an increased risk of developing autoimmune diseases in general, they are not necessarily more likely to develop Sjogren syndrome. + GARD + Sjogren syndrome
What is (are) Olmsted syndrome ?
Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (PPK) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. It may be complicated by multiple infections and squamous cell carcinoma. Olmstead syndrome is caused by mutations in the TRPV3 gene. It is transmitted through autosomal dominant inheritance. Treatment includes oral and topical retinoids, such as acetretin. + GARD + Olmsted syndrome
What are the symptoms of Olmsted syndrome ?
What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual hyperkeratosis - 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 + Olmsted syndrome
What are the symptoms of Spermatogenesis arrest ?
What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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 metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Azoospermia - Recurrent spontaneous abortion - 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 + Spermatogenesis arrest
What are the symptoms of Charcot-Marie-Tooth disease type 2L ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2L? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2L. 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) Areflexia - Autosomal dominant inheritance - Decreased amplitude of sensory action potentials - Decreased number of large peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: chronic denervation signs - Hyporeflexia - Peripheral axonal neuropathy - Pes cavus - Scoliosis - 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 + Charcot-Marie-Tooth disease type 2L
What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ?
What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 - Congenital adrenal hyperplasia - Increased circulating ACTH level - 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 adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
What are the symptoms of Atelosteogenesis type 1 ?
What are the signs and symptoms of Atelosteogenesis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Atelosteogenesis type 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) 11 pairs of ribs - Aplasia/Hypoplasia of the ulna - Brachydactyly syndrome - Cleft palate - Clubbing - Club-shaped proximal femur - Coronal cleft vertebrae - Cryptorchidism - Depressed nasal bridge - Distal tapering femur - Elbow dislocation - Encephalocele - Fibular aplasia - Frontal bossing - Fused cervical vertebrae - Hypoplasia of midface - Laryngeal stenosis - Malar flattening - Multinucleated giant chondrocytes in epiphyseal cartilage - Narrow chest - Neonatal death - Polyhydramnios - Premature birth - Proptosis - Radial bowing - Rhizomelia - Short femur - Short humerus - Short metacarpal - Short metatarsal - Short neck - Short nose - Sporadic - Stillbirth - Talipes equinovarus - Thoracic platyspondyly - Tibial bowing - 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 + Atelosteogenesis type 1
What are the symptoms of Santos Mateus Leal syndrome ?
What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal 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) Aganglionic megacolon 90% Foot polydactyly 90% Cognitive impairment 50% Hypertelorism 50% Postaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Sensorineural hearing impairment 50% Autosomal recessive inheritance - Hand polydactyly - Hearing impairment - Unilateral renal agenesis - 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 + Santos Mateus Leal syndrome
What is (are) Gliomatosis cerebri ?
Gliomatosis cerebri is a type of brain cancer.  It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, and seizures.  Because this tumor is so diffuse it can be challenging to treat and the prognosis for people with gliomatosis cerebri is generally poor. + GARD + Gliomatosis cerebri