fenil210/Med-Lamma huggingface dataset:
How to diagnose Proximal symphalangism ?
Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you. + GARD + Proximal symphalangism
What are the symptoms of Muscular dystrophy, congenital, megaconial type ?
What are the signs and symptoms of Muscular dystrophy, congenital, megaconial type? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, megaconial type. 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) Dilated cardiomyopathy 50% Autosomal recessive inheritance - Congenital muscular dystrophy - Congenital onset - Delayed speech and language development - Elevated serum creatine phosphokinase - Facial palsy - Gowers sign - Ichthyosis - Intellectual disability - Microcephaly - Mitochondrial inheritance - Motor delay - Myopathy - Neonatal hypotonia - Poor speech - Seizures - Slow progression - Waddling gait - 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 + Muscular dystrophy, congenital, megaconial type
What are the symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly ?
What are the signs and symptoms of Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly. 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) Hydrocephalus 90% Mandibular prognathia 90% Sprengel anomaly 90% Abnormal form of the vertebral bodies 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anteverted nares 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Cognitive impairment 50% Depressed nasal bridge 50% High forehead 50% Hypertelorism 50% Hypoplasia of the zygomatic bone 50% Low-set, posteriorly rotated ears 50% Macrocephaly 50% Melanocytic nevus 50% Obesity 50% Sandal gap 50% Scoliosis 50% Vertebral segmentation defect 50% Abnormality of the nipple 7.5% Myopia 7.5% Strabismus 7.5% Arachnoid cyst 5% Bulbous nose 5% Delayed gross motor development 5% Epicanthus 5% Hypoplasia of dental enamel 5% Intellectual disability 5% Low-set ears 5% Malar flattening 5% Wide nasal bridge 5% High palate - Kyphoscoliosis - Psychosis - 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 + Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
What is (are) Duane syndrome type 1 ?
Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). + GARD + Duane syndrome type 1
What are the symptoms of Duane syndrome type 1 ?
What are the signs and symptoms of Duane syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome 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) Ophthalmoparesis 90% Strabismus 90% Anteverted nares 50% Blepharophimosis 50% Deeply set eye 50% Abnormal form of the vertebral bodies 7.5% Abnormal localization of kidney 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Cognitive impairment 7.5% External ear malformation 7.5% Hearing impairment 7.5% Heterochromia iridis 7.5% Microcephaly 7.5% Nystagmus 7.5% Optic atrophy 7.5% Ptosis 7.5% Seizures 7.5% Short neck 7.5% Talipes 7.5% Visual impairment 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Congenital strabismus - Duane anomaly - Impaired convergence - Impaired ocular abduction - Impaired ocular adduction - Palpebral fissure narrowing on adduction - 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 + Duane syndrome type 1
What are the treatments for Duane syndrome type 1 ?
How might Duane syndrome type 1 be treated? Management of Duane syndrome is mainly supportive. It may involve treatment of amblyopia ("lazy eye"); wearing glasses or contact lenses; the use of prisms to correct for abnormal head posture; or possible eye muscle surgery. The majority of people with Duane syndrome do not need surgery. However, surgery may be indicated if necessary to reduce severe misalignment of the eyes (strabismus); improve an unacceptable head position; treat a significant upshoot or downshoot; or fix displacement of the eyeball within the orbit (enophthalmos). Unfortunately, surgery does not restore function to the affected nerve and muscle, and no surgical technique has been completely successful in eliminating the abnormal eye movements. Surgery for Duane syndrome usually involves adjusting the other eye muscles to compensate and allow for better eye alignment. While it cannot fix the underlying problem, it can substantially improve signs or symptoms. Some surgical procedures or combinations of procedures may be successful in improving or eliminating head turns and strabismus. + GARD + Duane syndrome type 1
What are the symptoms of Retinal cone dystrophy 4 ?
What are the signs and symptoms of Retinal cone dystrophy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 4. 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 - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - 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 + Retinal cone dystrophy 4
What are the symptoms of Myasthenia gravis, limb-girdle ?
What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. 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) Adult onset - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Hashimoto thyroiditis - Mildly elevated creatine phosphokinase - Neoplasm - Ophthalmoparesis - Proximal amyotrophy - Ptosis - Sporadic - Thymoma - Type 2 muscle fiber atrophy - 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 + Myasthenia gravis, limb-girdle
What is (are) Pyomyositis ?
Pyomyositis is rare bacterial infection of the skeletal muscle (the muscles used for movement). Signs and symptoms may include pain and tenderness of the affected muscle, fever, and abscess formation. If left untreated, the abscess may extend into the bone and joint or blood poisoning may occur. Approximately 90% of cases are caused by the bacterium, Staphylococcus aureus. Risk factors for the condition include strenuous activity, muscle trauma, skin infections, infected insect bites, illicit drug injections, connective tissue disorders, and diabetes. Treatment generally includes surgical drainage of the abscess and antibiotics. + GARD + Pyomyositis
What are the symptoms of Pyomyositis ?
What are the signs and symptoms of Pyomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyomyositis. 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 temperature regulation 90% Myalgia 90% Myositis 90% Recurrent cutaneous abscess formation 90% Leukocytosis 50% Weight loss 50% Renal insufficiency 7.5% Sepsis 7.5% Sudden cardiac death 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 + Pyomyositis
What are the symptoms of Vestibulocochlear dysfunction, progressive ?
What are the signs and symptoms of Vestibulocochlear dysfunction, progressive? The Human Phenotype Ontology provides the following list of signs and symptoms for Vestibulocochlear dysfunction, progressive. 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) Gait disturbance 90% Sensorineural hearing impairment 90% Abnormality of the nervous system - Autosomal dominant inheritance - Progressive hearing impairment - Tinnitus - Vestibular areflexia - 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 + Vestibulocochlear dysfunction, progressive
What is (are) Baylisascaris infection ?
Baylisascaris roundworms are intestinal parasites found in many different animals. Baylisascaris infection in humans is uncommon but can be severe. While Baylisascaris can infect different types of animals, Baylisascaris procyonis, carried by raccoons, is thought to pose the greatest risk to humans because raccoons often live in close proximity to humans. Humans can acquire the parasite by ingesting the eggs of infected raccoons. Young children are at greatest risk for Baylisascaris infection because they are more likely to put contaminated soil in their mouths. Though rare, human infections can be severe if the parasite invades the eye (ocular larva migrans), organs (visceral larva migrans), or the brain (neural larva migrans). Symptoms of a Baylisascaris infection may include nausea, fatigue, an enlarged liver, loss of coordination, lack of muscle control, blindness, and coma. Baylisascaris infections cannot be spread from one person to another. No drug has been found to be completely effective against Baylisascaris infections in humans though albendazole has been used in some cases. + GARD + Baylisascaris infection
What are the treatments for Baylisascaris infection ?
How might Baylisascaris infection be treated? No drug has been found to be completely effective in treating Baylisascaris infections in humans. Albendazole is currently considered to be the drug of choice. Corticosteroids may also be given to reduce inflammation. In many cases, significant damage has already occurred by the time treatment has started. Early diagnosis and treatment provide the best chance of recovery. + GARD + Baylisascaris infection
What are the symptoms of Lubinsky syndrome ?
What are the signs and symptoms of Lubinsky syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lubinsky 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 testis 90% Cataract 90% Decreased fertility 90% Autosomal recessive inheritance - Elevated follicle stimulating hormone - Hypogonadism - Infertility - Male hypogonadism - 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 + Lubinsky syndrome
What are the symptoms of Medulloblastoma ?
What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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 - Medulloblastoma - 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 + Medulloblastoma
What is (are) Anencephaly ?
Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth. Anencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown. + GARD + Anencephaly
What are the symptoms of Anencephaly ?
What are the signs and symptoms of Anencephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Anencephaly. 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) Anencephaly 90% Primary adrenal insufficiency 90% Spina bifida - 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 + Anencephaly