fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Metaphyseal acroscyphodysplasia ?
What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. 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 metacarpal bones 90% Accelerated skeletal maturation 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Genu varum 90% Micromelia 90% Short stature 90% Short toe 90% Cognitive impairment 50% Depressed nasal ridge 50% Epicanthus 50% Frontal bossing 50% Hypertelorism 50% Telecanthus 50% Malar flattening 7.5% Scoliosis 7.5% Anteverted nares - Autosomal recessive inheritance - Biconcave vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Craniosynostosis - Flat face - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular phalanges - Metaphyseal cupping - Metaphyseal widening - Narrow pelvis bone - Platyspondyly - Prominent forehead - Severe short stature - Short finger - Short humerus - Short metacarpal - Short palm - Short phalanx of finger - Thickened calvaria - Tibial bowing - Wide nasal bridge - 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 + Metaphyseal acroscyphodysplasia
What is (are) Chromosome 2q deletion ?
Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. + GARD + Chromosome 2q deletion
What are the symptoms of Familial encephalopathy with neuroserpin inclusion bodies ?
What are the signs and symptoms of Familial encephalopathy with neuroserpin inclusion bodies? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial encephalopathy with neuroserpin inclusion bodies. 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 extrapyramidal motor function - Autosomal dominant inheritance - Cerebral atrophy - Dementia - Diplopia - Distal sensory impairment - Dysarthria - Encephalopathy - Gliosis - Myoclonus - Neuronal loss in central nervous system - Nystagmus - Seizures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Familial encephalopathy with neuroserpin inclusion bodies
What is (are) Idiopathic inflammatory myopathy ?
Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis, which are each associated with unique features. As the name suggests, the cause of the condition is currently unknown (idiopathic). However, researchers suspect that it may occur due to a combination of genetic and environmental factors. Treatment is supportive and based on the signs and symptoms present in each person. + GARD + Idiopathic inflammatory myopathy
What are the symptoms of Idiopathic inflammatory myopathy ?
What are the signs and symptoms of Idiopathic inflammatory myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic inflammatory myopathy. 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 - Myositis - Proximal muscle weakness - 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 + Idiopathic inflammatory myopathy
What is (are) Familial atrial fibrillation ?
Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Signs and symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. Affected people also have an increased risk of stroke and sudden death. While complications may occur at any age, some affected people never have associated health problems. Familial atrial fibrillation may be caused by changes (mutations) in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. + GARD + Familial atrial fibrillation
What are the symptoms of Familial atrial fibrillation ?
What are the signs and symptoms of Familial atrial fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial atrial fibrillation. 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) Thromboembolic stroke 75% Autosomal dominant 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 + Familial atrial fibrillation
What are the treatments for Familial atrial fibrillation ?
How might familial atrial fibrillation be treated? We are unaware of treatment recommendations specific to familial atrial fibrillation, but there is information available about treatment for atrial fibrillation in general. Treatment for atrial fibrillation depends on the frequency and severity of symptoms and may involve medications, medical procedures, and lifestyle changes. People who don't have symptoms or related heart problems may not need treatment. The main goals of treatment include: Preventing blot clots and lowering risk of stroke. This may involve blood-thinning medications such as warfarin, dabigatran, heparin, and aspirin. Controlling the rate of contractions of the ventricles (rate control). This may involve medications to restore the heart rate to a normal level, such as beta blockers, calcium channel blockers, and digitalis. Restoring a normal heart rhythm (rhythm control). This is typically for people who don't do well with rate control treatment, or for people who recently began having symptoms. Rhythm control may involve medications or procedures and is usually begun in a hospital for monitoring. Procedures may include cardioversion, catheter ablation, or maze surgery. + GARD + Familial atrial fibrillation
What is (are) Hereditary mucoepithelial dysplasia ?
Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas of the body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. + GARD + Hereditary mucoepithelial dysplasia
What are the symptoms of Hereditary mucoepithelial dysplasia ?
What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial 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) Cataract 90% Corneal dystrophy 90% Fine hair 90% Furrowed tongue 90% Gingival overgrowth 90% Hyperkeratosis 90% Tracheoesophageal fistula 90% Abnormality of female internal genitalia 50% Nystagmus 50% Photophobia 50% Pulmonary fibrosis 50% Hematuria 7.5% Chronic diarrhea 5% Melena 5% Nail dysplasia 5% Nail dystrophy 5% Recurrent pneumonia 5% Alopecia - Autosomal dominant inheritance - Blindness - Chronic monilial nail infection - Chronic mucocutaneous candidiasis - Coarse hair - Congenital onset - Cor pulmonale - Corneal neovascularization - Eosinophilia - Esotropia - Fibrocystic lung disease - Keratoconjunctivitis - Opacification of the corneal stroma - Pneumonia - 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 + Hereditary mucoepithelial dysplasia
What are the symptoms of Gastrocutaneous syndrome ?
What are the signs and symptoms of Gastrocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastrocutaneous 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 gastric mucosa 90% Cafe-au-lait spot 90% Hypertelorism 90% Melanocytic nevus 90% Myopia 90% Abnormality of the pulmonary artery 50% Depressed nasal bridge 50% Type II diabetes mellitus 50% Coronary artery disease 7.5% Strabismus 7.5% Synophrys 7.5% Upslanted palpebral fissure 7.5% Autosomal dominant inheritance - Hiatus hernia - Multiple lentigines - Peptic ulcer - 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 + Gastrocutaneous syndrome
What is (are) Charcot-Marie-Tooth disease type 1E ?
Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. + GARD + Charcot-Marie-Tooth disease type 1E
What are the symptoms of Charcot-Marie-Tooth disease type 1E ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1E. 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 - Childhood onset - Decreased motor nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Juvenile onset - Pes cavus - Sensorineural hearing impairment - Split hand - Steppage gait - Talipes calcaneovalgus - 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 1E
What are the symptoms of Microphthalmia microtia fetal akinesia ?
What are the signs and symptoms of Microphthalmia microtia fetal akinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia microtia fetal akinesia. 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 outer ear 90% Aplasia/Hypoplasia affecting the eye 90% Camptodactyly of finger 90% Frontal bossing 90% Limitation of joint mobility 90% Patent ductus arteriosus 90% Short nose 90% Abnormality of the upper urinary tract 50% Duodenal stenosis 50% Hypoplasia of penis 50% Polyhydramnios 50% Symphalangism affecting the phalanges of the hand 50% 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 + Microphthalmia microtia fetal akinesia
What are the symptoms of Diamond-Blackfan anemia 3 ?
What are the signs and symptoms of Diamond-Blackfan anemia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Diamond-Blackfan anemia 3. 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 - Erythrocyte macrocytosis - Macrocytic anemia - Persistence of hemoglobin F - Reticulocytopenia - 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 + Diamond-Blackfan anemia 3
What is (are) Eales disease ?
Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease. + GARD + Eales disease