fenil210/Med-Lamma huggingface dataset:
How to diagnose Klebsiella infection ?
How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebsiella infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of Klebsiella bacteria. + GARD + Klebsiella infection
What are the treatments for Klebsiella infection ?
How might Klebsiella infections be treated? The treatment of Klebsiella infections can be complicated since some Klebsiella bacteria are resistant to certain types of antibiotics. Once a person is diagnosed with one of these infections, a healthcare provider will usually order specialized laboratory testing (susceptibility testing) to determine which antibiotics may be used to treat the Klebsiella infection. If the healthcare provider prescribes an antibiotic, it is important to take the medication exactly as instructed and to continue taking the prescribed course, even if symptoms are gone. If treatment stops too soon, some bacteria may survive and the person may become re-infected. + GARD + Klebsiella infection
What are the symptoms of Glaucoma 3 primary infantile B ?
What are the signs and symptoms of Glaucoma 3 primary infantile B? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma 3 primary infantile B. 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 - Primary congenital glaucoma - 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 + Glaucoma 3 primary infantile B
What are the symptoms of Ulna and fibula, hypoplasia of ?
What are the signs and symptoms of Ulna and fibula, hypoplasia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna and fibula, hypoplasia of. 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 fibula 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Elbow dislocation 90% Micromelia 90% Sacrococcygeal pilonidal abnormality 90% Ulnar deviation of finger 90% Synostosis of carpal bones 50% Myopia 7.5% Strabismus 7.5% Autosomal dominant inheritance - Fibular hypoplasia - Hypoplasia of the ulna - Neonatal short-limb 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 + Ulna and fibula, hypoplasia of
What is (are) Leri Weill dyschondrosteosis ?
Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance. + GARD + Leri Weill dyschondrosteosis
What are the symptoms of Leri Weill dyschondrosteosis ?
What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. 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 femur 90% Abnormality of the hip bone 90% Abnormality of the humeroulnar joint 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Arthralgia 90% Bone pain 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Depressed nasal bridge 90% Exostoses 90% Genu varum 90% Limitation of joint mobility 90% Madelung deformity 90% Micromelia 90% Patellar aplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Elbow dislocation 50% Genu valgum 50% Osteoarthritis 50% Scoliosis 50% Nephropathy 7.5% Abnormality of the carpal bones - Abnormality of the metatarsal bones - Autosomal dominant inheritance - Coxa valga - Disproportionate short-limb short stature - Dorsal subluxation of ulna - Fibular hypoplasia - High palate - Hypoplasia of the radius - Hypoplasia of the ulna - Increased carrying angle - Limited elbow movement - Limited wrist movement - Mesomelia - Multiple exostoses - Radial bowing - Short 4th metacarpal - Short tibia - Short toe - Skeletal muscle hypertrophy - 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 + Leri Weill dyschondrosteosis
What are the symptoms of Dextrocardia with unusual facies and microphthalmia ?
What are the signs and symptoms of Dextrocardia with unusual facies and microphthalmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Dextrocardia with unusual facies and microphthalmia. 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 - Anophthalmia - Autosomal recessive inheritance - Choreoathetosis - Cleft palate - Dextrocardia - Intellectual disability - Macrotia - Microphthalmia - Prominent nose - Sloping forehead - Supernumerary ribs - Vertebral segmentation defect - 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 + Dextrocardia with unusual facies and microphthalmia
What is (are) 3-Hydroxyisobutyric aciduria ?
3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of 3-hydroxyisobutyric aciduria include developmental delay, characteristic facial features and brain abnormalities. The exact underlying cause is not well understood; however, researchers believe some cases are caused by changes (mutations) in the ALDH6A1 gene and inherited in an autosomal recessive manner. Because it is so rare, there is limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success. + GARD + 3-Hydroxyisobutyric aciduria
What are the symptoms of 3-Hydroxyisobutyric aciduria ?
What are the signs and symptoms of 3-Hydroxyisobutyric aciduria? The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include: Developmental delay Intellectual disability Failure to thrive Characteristic facial features including a long philtrum and small, low-set ears Unusually small head (microcephaly) Congenital brain abnormalities Nausea Diarrhea Dehydration Lethargy The severity of the condition can also vary significantly from person to person. Some affected people may only experience mild attacks of vomiting with normal development, while others experience failure to thrive with severe intellectual disability and early death. The Human Phenotype Ontology provides the following list of signs and symptoms for 3-Hydroxyisobutyric aciduria. 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) Aminoaciduria 90% Abnormality of the outer ear 50% Long philtrum 50% Triangular face 50% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Intrauterine growth retardation 7.5% Microcephaly 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of neuronal migration - Autosomal recessive inheritance - Congenital intracerebral calcification - Episodic ketoacidosis - Failure to thrive - Lactic acidosis - 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 + 3-Hydroxyisobutyric aciduria
What causes 3-Hydroxyisobutyric aciduria ?
What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, which helps the body break down certain amino acids (the building blocks of protein) found in food. If this gene isn't working properly, the body is unable to break down the amino acids valine and thymine which leads to a build-up of toxic substances in the body and the many signs and symptoms of 3-hydroxyisobutyric aciduria. + GARD + 3-Hydroxyisobutyric aciduria
Is 3-Hydroxyisobutyric aciduria inherited ?
Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. + GARD + 3-Hydroxyisobutyric aciduria
What are the treatments for 3-Hydroxyisobutyric aciduria ?
How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees of success. + GARD + 3-Hydroxyisobutyric aciduria
What are the symptoms of X-linked hypohidrotic ectodermal dysplasia ?
What are the signs and symptoms of X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal 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 hair quantity 90% Delayed eruption of teeth 90% Depressed nasal ridge 90% Hypohidrosis 90% Microdontia 90% Frontal bossing 50% Anterior hypopituitarism 7.5% Hypertension 7.5% Short distal phalanx of finger 7.5% Type I diabetes mellitus 7.5% Abnormality of oral mucosa - Absent eyebrow - Absent nipple - Anhidrosis - Aplasia/Hypoplastia of the eccrine sweat glands - Brittle hair - Concave nail - Conical tooth - Depressed nasal bridge - Dry skin - Dysphonia - Eczema - Everted upper lip vermilion - Fever - Heat intolerance - Heterogeneous - Hoarse voice - Hypodontia - Hypohidrotic ectodermal dysplasia - Hypoplasia of the maxilla - Hypoplastic nipples - Hypoplastic-absent sebaceous glands - Hypotrichosis - Periorbital hyperpigmentation - Periorbital wrinkles - Prominent supraorbital ridges - Respiratory difficulties - Short chin - Short nose - Soft skin - Sparse eyebrow - Sparse eyelashes - Taurodontia - Thick vermilion border - Thin skin - Underdeveloped nasal alae - X-linked 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 + X-linked hypohidrotic ectodermal dysplasia
What is (are) Glutaric acidemia type III ?
Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients. + GARD + Glutaric acidemia type III
What are the symptoms of Glutaric acidemia type III ?
What are the signs and symptoms of Glutaric acidemia type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type III. 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) Goiter 5% Hyperthyroidism 5% Autosomal recessive inheritance - Diarrhea - Failure to thrive - Glutaric aciduria - Hypertension - Vomiting - 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 + Glutaric acidemia type III
What are the symptoms of Keratosis follicularis dwarfism and cerebral atrophy ?
What are the signs and symptoms of Keratosis follicularis dwarfism and cerebral atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis dwarfism and cerebral atrophy. 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) Alopecia 90% Cerebral cortical atrophy 90% Hyperkeratosis 90% Microcephaly 90% Short stature 90% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Absent eyebrow - Absent eyelashes - Cerebral atrophy - Death in childhood - Generalized keratosis follicularis - Severe short stature - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Keratosis follicularis dwarfism and cerebral atrophy
What is (are) Bell's palsy ?
Bell's palsy is a form of temporary facial paralysis which results from damage or trauma to one of the facial nerves. This disorder is characterized by the sudden onset of facial paralysis that often affects just one side and can cause significant facial distortion. Symptoms vary, but may include twitching, weakness, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, impairment of taste, and excessive tearing in the eye. While the exact cause is unknown, many researchers believe that a virus may lead to swelling of the 7th cranial nerve. Steroids, such as prednisone, may reduce the inflammation and swelling. Other medications used to treat Bell's palsy include acyclovir (to fight viral infections) and aspirin, acetaminophen, or ibuprofen (to relieve pain). Physical therapy, facial massage and acupuncture have also been used. + GARD + Bell's palsy
What are the symptoms of Bell's palsy ?
What are the symptoms of Bell's palsy? + GARD + Bell's palsy
What causes Bell's palsy ?
What causes Bell's palsy? + GARD + Bell's palsy
What are the treatments for Bell's palsy ?
How might Bell's palsy be treated? + GARD + Bell's palsy