Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for Eosinophilic fasciitis ?
Answer: How might eosinophilic fasciitis be treated? About 10-20% of people with eosinophilic fasciitis recover spontaneously without treatment. For those who do not, glucocorticoids (0.51 mg/kg/d), such as prednisone, are the mainstay therapy. Even with treatment, improvement in symptoms can take weeks or months. Glucocorticoids are successful in treating eosionophilic fasciitis in over 70% of cases. If glucocorticoids are unsuccessful, methotrexate at low doses (1525 mg once weekly) is probably the most favored second-line treatment, especially in people with reddish to purpleish (morphea-like) skin lesions. Other treatment options include NSAIDs, D-penicillamine, chloroquine, cimetidine, azathioprine, cyclosporin A, infliximab, UVA-1, and bath PUVA. Physical therapy may help improve joint mobility and decrease contractures. Surgical release has been used in some severe cases to manage significant joint contractures.
Question: What are the symptoms of Madokoro Ohdo Sonoda syndrome ?
Answer: What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - Wide mouth - 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.
Question: What is (are) Myotonia congenita autosomal dominant ?
Answer: Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.
Question: What are the symptoms of Myotonia congenita autosomal dominant ?
Answer: What are the signs and symptoms of Myotonia congenita autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. 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) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - 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.
Question: What is (are) Progressive pseudorheumatoid arthropathy of childhood ?
Answer: Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type
Question: What are the symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ?
Answer: What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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.
Question: What are the symptoms of Conductive deafness with malformed external ear ?
Answer: What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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.
Question: What is (are) Chromosome 8p deletion ?
Answer: Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Question: What are the symptoms of Optic atrophy polyneuropathy deafness ?
Answer: What are the signs and symptoms of Optic atrophy polyneuropathy deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy polyneuropathy deafness. 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 recessive inheritance - Broad-based gait - Distal muscle weakness - Distal sensory impairment - Distal upper limb amyotrophy - Gait ataxia - Joint contracture of the hand - Optic atrophy - Pectus excavatum - Peripheral demyelination - Positive Romberg sign - Progressive sensorineural hearing impairment - Short thumb - Thoracic scoliosis - Ulnar deviation of the hand - Variable expressivity - 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.
Question: What are the symptoms of Corneal dystrophy Thiel Behnke type ?
Answer: What are the signs and symptoms of Corneal dystrophy Thiel Behnke type? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy Thiel Behnke 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) Autosomal dominant inheritance - Corneal dystrophy - Corneal scarring - Juvenile epithelial corneal dystrophy - Photophobia - 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.
Question: What is (are) Pityriasis lichenoides chronica ?
Answer: Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may be present at any one time. Patients with this condition often have exacerbations and relapses of the condition, which can last for months or years.
Question: What are the symptoms of Pityriasis lichenoides chronica ?
Answer: What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several weeks, the spot flattens out spontaneously and leaves behind a brown mark, which fades over several months. Pityriasis lichenoides chronica most commonly occurs over the trunk, buttocks, arms and legs, but may also occur on the hands, feet, face and scalp. Unlike the acute type of pityriasis lichenoides, lesions associated with pityriasis lichenoides chronica are not painful, itchy or irritating. What symptoms are associated with pityriasis lichenoides chronica (PLC)? PLC is the milder form of pityriasis lichenoides, and the lesions associated with this form consist of small, firm, red-brown spots. Unlike PLEVA, the lesions are not irritating and have mica-like adherent scale, which can be scraped off to reveal a shiny brown surface. The spot flattens out over several weeks to leave a brown mark which fades over several months. PLC can look like psoriasis, lichen planus, or insect bites.
Question: How to diagnose Pityriasis lichenoides chronica ?
Answer: How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is most often involved in the diagnosis and care of patients with this condition.
Question: What are the treatments for Pityriasis lichenoides chronica ?
Answer: How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure Topical steroids Topical immunomodulators such as tacrolimus or pimecrolimus Oral antibiotics such as erythromycin and tetracycline Second-line therapies may include: Phototherapy artificial ultraviolet radiation treatment with UVB or PUVA Third-line therapies may include: Systemic steroids Methotrexate Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic.
Question: What is (are) Osteogenesis imperfecta type VI ?
Answer: Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.
Question: What are the symptoms of Osteogenesis imperfecta type VI ?
Answer: What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (osteopenia) and break easily beginning after 6 months of age. A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern. Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type VI. 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 - Beaking of vertebral bodies - Biconcave vertebral bodies - Coxa vara - Increased susceptibility to fractures - Ligamentous laxity - Protrusio acetabuli - Vertebral compression fractures - 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.
Question: Is Osteogenesis imperfecta type VI inherited ?
Answer: How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for 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, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation.
Question: What are the symptoms of Fountain syndrome ?
Answer: What are the signs and symptoms of Fountain syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fountain 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) Brachydactyly syndrome 90% Coarse facial features 90% Cognitive impairment 90% Craniofacial hyperostosis 90% Edema 90% Round face 90% Sensorineural hearing impairment 90% Thick lower lip vermilion 90% EEG abnormality 50% Full cheeks 50% Hyperextensible skin 50% Malar flattening 50% Wide mouth 50% Abnormality of the metacarpal bones 7.5% Abnormality of the metaphyses 7.5% Abnormality of the palate 7.5% Clubbing of toes 7.5% Cutis marmorata 7.5% Gingival overgrowth 7.5% Kyphosis 7.5% Large hands 7.5% Macrocephaly 7.5% Neurological speech impairment 7.5% Scoliosis 7.5% Seizures 7.5% Short stature 7.5% Spina bifida occulta 7.5% Thick eyebrow 7.5% Autosomal recessive inheritance - Broad palm - Facial edema - Intellectual disability - Thickened calvaria - 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.
Question: What causes Mitochondrial genetic disorders ?
Answer: What causes mitochondrial genetic disorders? Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria. Most DNA (hereditary material that is passed from parent to child) is packaged within the nucleus of each cell (known as nuclear DNA). However, mitochondria (the structures in each cell that produce energy) contain a small amount of their own DNA, which is known as mitochondrial DNA. When the mitochondria are not working properly, the body does not have enough energy to carry out its normal functions. This can lead to the variety of health problems associated with mitochondrial genetic disorders.