fenil210/Med-Lamma huggingface dataset:
What are the treatments for Narcolepsy ?
How might narcolepsy be treated? There is currently no cure for narcolepsy, but some of the symptoms can be managed with medications and lifestyle changes. Most affected people improve if they maintain a regular sleep schedule, usually 7.5 to 8 hours of sleep per night. Scheduled naps during the day also may help. Other measures that may help include participating in an exercise program; receiving emotional support and career or vocational counseling; and avoiding high-risk behaviors such as alcohol and drug use, which may make symptoms worse. Common-sense measures should be taken to enhance sleep quality (such as avoiding heavy meals before bed time). Treatment with medications involves the use of central nervous system (CNS) stimulants. These medications help reduce daytime sleepiness and improve this symptom in 65-85% of affected people. Two types of antidepressant drugs (tricyclics, and selective serotonin and noradrenergic reuptake inhibitors) are effective in controlling cataplexy in many people. Sodium oxybate (a strong sedative taken during the night) may also be used to treat narcolepsy. You can view detailed information about the treatment of narcolepsy on Medscape's Web site. + GARD + Narcolepsy
What are the symptoms of Kerion celsi ?
What are the signs and symptoms of Kerion celsi? The Human Phenotype Ontology provides the following list of signs and symptoms for Kerion celsi. 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 - Abnormality of the skin - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Kerion celsi
What are the symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy ?
What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive with axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive with axonal neuropathy. 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) Ataxia - Autosomal recessive inheritance - Distal amyotrophy - Peripheral axonal neuropathy - Pes cavus - Steppage 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 + Spinocerebellar ataxia autosomal recessive with axonal neuropathy
What are the symptoms of Deafness oligodontia syndrome ?
What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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) Reduced number of teeth 90% Sensorineural hearing impairment 90% Vertigo 50% Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Diastema - Oligodontia - 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 + Deafness oligodontia syndrome
What is (are) Bronchiolitis obliterans ?
Bronchiolitis obliterans is an inflammatory obstruction of the lung's tiniest airways, the bronchioles. The bronchioles may become damaged and inflamed after inhalation of toxic fumes, as a result of respiratory infections, in association with connective tissue disorders, or after bone marrow or heart-lung transplants. This leads to extensive scarring that blocks the airways, leading to a dry cough, shortness of breath, fatigue and wheezing in the absence of a cold or asthma. While there is no way to reverse the disease, treatments are available to stabilize or slow the progression.   Another similarly named disease, bronchiolitis obliterans organizing pneumonia, is a completely different disease. + GARD + Bronchiolitis obliterans
What are the symptoms of Bronchiolitis obliterans ?
What are the signs and symptoms of bronchiolitis obliterans? Bronchiolitis obliterans is characterized by a dry cough and shortness of breath which develop 2 to 8 weeks after toxic fume exposure or a respiratory illness. Fatigue and wheezing in the absence of a cold or asthma may also be noted. While high resolution chest CT scans and pulmonary function tests may help to detect bronchiolitis obliterans, a surgical lung biopsy is the most definitive way to diagnose the disease. + GARD + Bronchiolitis obliterans
What are the treatments for Bronchiolitis obliterans ?
How might bronchiolitis obliterans be treated? While there is no cure for this condition, treatment with corticosteroids can help to stabilize or slow its progression. Immunosuppressive therapies and lung transplants might also be used. Treatment is most effective during the early stages of the disease. If left untreated, bronchiolitis obliterans can be fatal. + GARD + Bronchiolitis obliterans
What are the symptoms of Spondylometaphyseal dysplasia Algerian type ?
What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian 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) Genu valgum 90% Micromelia 90% Myopia 90% Anterior rib cupping - Autosomal dominant inheritance - Bowed humerus - Carpal bone hypoplasia - Coxa vara - Flared femoral metaphysis - Hypoplasia of proximal radius - Hypoplastic pelvis - Kyphoscoliosis - Lumbar hyperlordosis - Metaphyseal dysplasia - Platyspondyly - Severe short stature - Short sacroiliac notch - Short tubular bones (hand) - Spondylometaphyseal dysplasia - Tibial metaphyseal irregularity - 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 + Spondylometaphyseal dysplasia Algerian type
What are the symptoms of Onychotrichodysplasia and neutropenia ?
What are the signs and symptoms of Onychotrichodysplasia and neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychotrichodysplasia and neutropenia. 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 - Chronic irritative conjunctivitis - Concave nail - Curly eyelashes - Curly hair - Hypoplastic fingernail - Intellectual disability, mild - Lymphocytosis - Neutropenia - Recurrent infections - Short eyelashes - Sparse pubic hair - Trichorrhexis nodosa - 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 + Onychotrichodysplasia and neutropenia
What is (are) Congenital chloride diarrhea ?
Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy. Mutations in the SLC26A3 gene have been found to cause the condition. It is inherited in an autosomal recessive manner. Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride. + GARD + Congenital chloride diarrhea
What are the symptoms of Congenital chloride diarrhea ?
What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. 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) Abdominal distention - Abnormality of the cardiovascular system - Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Growth delay - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypochloremia - Hypokalemia - Hyponatremia - Metabolic alkalosis - Polyhydramnios - Premature birth - 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 chloride diarrhea
What are the treatments for Congenital chloride diarrhea ?
How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced. Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children. One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss. Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment. + GARD + Congenital chloride diarrhea
What are the symptoms of Teebi Kaurah syndrome ?
What are the signs and symptoms of Teebi Kaurah syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Teebi Kaurah 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) Anonychia 90% Aplastic/hypoplastic toenail 90% Microcephaly 50% Single transverse palmar crease 50% Carious teeth 7.5% Clinodactyly of the 5th finger 7.5% Sloping forehead 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 + Teebi Kaurah syndrome
What is (are) Hereditary neuralgic amyotrophy ?
Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms.  Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.).  Secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Affected members in some families may share additional distinct physical and facial characteristics. Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene.  It is inherited in an autosomal dominant fashion. + GARD + Hereditary neuralgic amyotrophy
What are the symptoms of Hereditary neuralgic amyotrophy ?
What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. 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% EMG abnormality 90% Muscle weakness 90% Polyneuropathy 90% Paresthesia 50% Sprengel anomaly 50% Acrocyanosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Oral cleft 7.5% Respiratory insufficiency 7.5% Round face 7.5% Short stature 7.5% Sleep disturbance 7.5% Hyporeflexia 5% Autosomal dominant inheritance - Axonal degeneration - Blepharophimosis - Brachial plexus neuropathy - Cleft palate - Deeply set eye - Depressed nasal bridge - Epicanthus - Facial asymmetry - Hypotelorism - Low-set ears - Peripheral neuropathy - Ptosis - Skeletal muscle atrophy - Upslanted palpebral fissure - 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 neuralgic amyotrophy
What is (are) Osteogenesis imperfecta type III ?
Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. + GARD + Osteogenesis imperfecta type III
What are the symptoms of Osteogenesis imperfecta type III ?
What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta 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) Abnormality of the nervous system - Abnormality of the thorax - Autosomal dominant inheritance - Autosomal recessive inheritance - Basilar impression - Biconcave vertebral bodies - Blue sclerae - Bowing of limbs due to multiple fractures - Decreased calvarial ossification - Dentinogenesis imperfecta - Frontal bossing - Hearing impairment - Kyphosis - Multiple prenatal fractures - Neonatal short-limb short stature - Platybasia - Protrusio acetabuli - Pulmonary hypertension - Recurrent fractures - Scoliosis - Severe generalized osteoporosis - Slender long bone - Tibial bowing - Triangular face - Wide anterior fontanel - Wormian bones - 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 + Osteogenesis imperfecta type III