sarnsrun/medquad huggingface dataset:
Topic: Protein C deficiency
Question: How to diagnose Protein C deficiency ?
Answer: How is protein C deficiency diagnosed? A diagnosis of protein C deficiency might be suspected in someone with a deep venous thrombosis (DVT) or a pulmonary embolism, especially if it occurs in a relatively young person (less than 50 years old) or has formed in an unusual location, such as the veins leading to the liver or kidney or the blood vessels of the brain. Laboratory tests are usually be done to look at the function or quantity of protein C in the blood. Functional tests are usually ordered, along with other tests for abnormal blood clotting, to screen for normal activity of protein C. Based on those results, concentrations of protein C may be measured to look for decreased production due to an acquired or inherited condition and to classify the type of deficiency. If the shortage of protein C is due to an inherited genetic change, the quantity of protein C available and the degree of activity can be used to help determine whether a person is heterozygous or homozygous for the mutation. Genetic testing is not necessary to make a diagnosis.
Source: GARD
Topic: Protein C deficiency
Question: What are the treatments for Protein C deficiency ?
Answer: How might protein C deficiency be treated? Most people with mild protein C deficiency never develop abnormal blood clots and thus do not require treatment. However, people who have experienced a deep venous thrombosis (DVT) or a pulmonary embolism are usually treated with blood-thinning drugs such as heparin or warfarin, which help to prevent another blood clot from developing in the future. Preventative treatment with these blood-thinning drugs may also be considered in those with a family history of blood clotting, as well as in higher risk situations such as pregnancy. A protein C concentrate (Ceprotin) was approved by the Food and Drug Administration in 2007 for the treatment of protein C deficiency. High doses of intravenous protein C concentrates can help thin the blood and protect from blood clots. It can also be used a preventative treatment against blood clots during surgery, pregnancy delivery, prolonged immobility, or overwhelming infection in the blood stream (sepsis). Currently, no guidelines exist as to which patients should receive protein C concentrate. It is typically given only at times of increased risk for clotting, or when the blood thinner heparin by itself cannot be safely given because it would lead to an increased risk for bleeding. However, in those with severe protein C who have had severe bleeding complications on long-term blood thinning therapy, protein C concentrate has been used on a regular basis.
Source: GARD
Topic: Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Question: What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ?
Answer: What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. 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) Amelogenesis imperfecta - Autosomal recessive inheritance - Biconcave vertebral bodies - Broad ribs - Photophobia - Prominent deltoid tuberosities - Reduced visual acuity - Rhizomelia - Rod-cone dystrophy - Scoliosis - Short clavicles - Short femoral neck - Short humerus - Short neck - Short ribs - Strabismus - 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.
Source: GARD
Topic: 1q44 microdeletion syndrome
Question: What are the symptoms of 1q44 microdeletion syndrome ?
Answer: What are the signs and symptoms of 1q44 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q44 microdeletion 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) Cognitive impairment 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the philtrum 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertelorism 50% Microcephaly 50% Short stature 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Abnormality of the palate 7.5% Displacement of the external urethral meatus 7.5% Frontal bossing 7.5% High forehead 7.5% Hydrocephalus 7.5% Intestinal malrotation 7.5% Narrow forehead 7.5% Optic atrophy 7.5% Preauricular skin tag 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Synophrys 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.
Source: GARD
Topic: Leukodystrophy
Question: What is (are) Leukodystrophy ?
Answer: A leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain. The white matter degrades due to defects of the myelin, which is a fatty covering that insulates nerves in the brain. Myelin is needed to protect the nerves and the nerves can't function normally without it. These disorders are progressive, meaning they tend to get worse with time. The leukodystrophies are a group of disorders caused by spelling mistakes (mutations) in the genes involved in making myelin. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease. The most common symptom of a leukodystrophy is a decline in functioning of an infant or child who previously appeared healthy. This gradual loss may be seen with issues in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior.
Source: GARD
Topic: Nephrosis deafness urinary tract digital malformation
Question: What are the symptoms of Nephrosis deafness urinary tract digital malformation ?
Answer: What are the signs and symptoms of Nephrosis deafness urinary tract digital malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephrosis deafness urinary tract digital malformation. 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% Nephrotic syndrome 90% Abnormality of the ureter 50% Cleft palate 50% Hematuria 50% Hypertension 50% Proteinuria 50% Abnormal localization of kidney 7.5% Abnormality of lipid metabolism 7.5% Renal insufficiency 7.5% Bifid distal phalanx of the thumb - Bifid uvula - Hearing impairment - Partial duplication of the distal phalanx of the hallux - Short distal phalanx of hallux - Short distal phalanx of the thumb - 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.
Source: GARD
Topic: Acromesomelic dysplasia Hunter Thompson type
Question: What are the symptoms of Acromesomelic dysplasia Hunter Thompson type ?
Answer: What are the signs and symptoms of Acromesomelic dysplasia Hunter Thompson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic dysplasia Hunter Thompson 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) Abnormality of the ankles 90% Brachydactyly syndrome 90% Elbow dislocation 90% Micromelia 90% Neurological speech impairment 90% Short stature 90% Single transverse palmar crease 90% Tarsal synostosis 90% Abnormality of the hip bone 50% Abnormality of the wrist 50% Cognitive impairment 50% Limitation of joint mobility 50% Patellar dislocation 50% Scoliosis 50% Abnormally shaped carpal bones - Acromesomelia - Autosomal recessive inheritance - Cuboidal metacarpal - Distal femoral bowing - Hip dislocation - Hypoplasia of the radius - Hypoplasia of the ulna - Radial bowing - Severe short-limb dwarfism - Short foot - Short thumb - Short tibia - Shortening of all middle phalanges of the fingers - Shortening of all proximal phalanges of the fingers - 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.
Source: GARD
Topic: Snyder-Robinson syndrome
Question: What is (are) Snyder-Robinson syndrome ?
Answer: Snyder-Robinson syndrome is an inherited condition that is characterized by intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.
Source: GARD
Topic: Snyder-Robinson syndrome
Question: What are the symptoms of Snyder-Robinson syndrome ?
Answer: What are the signs and symptoms of Snyder-Robinson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Snyder-Robinson 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 pinna - Bifid uvula - Broad-based gait - Cleft palate - Cryptorchidism - Decreased muscle mass - Dental crowding - Dysarthria - Facial asymmetry - High, narrow palate - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability - Kyphoscoliosis - Long fingers - Long hallux - Long palm - Mandibular prognathia - Muscular hypotonia - Narrow palm - Nasal speech - Osteoporosis - Pectus carinatum - Pectus excavatum - Phenotypic variability - Recurrent fractures - Seizures - Severe Myopia - Short philtrum - Short stature - Talipes equinovarus - Tall stature - Thick lower lip vermilion - Webbed neck - Wide intermamillary distance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Tibia absent polydactyly arachnoid cyst
Question: What are the symptoms of Tibia absent polydactyly arachnoid cyst ?
Answer: What are the signs and symptoms of Tibia absent polydactyly arachnoid cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Tibia absent polydactyly arachnoid cyst. 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) Aplasia/Hypoplasia of the cerebellum 90% Abnormality of the fibula 50% Abnormality of the ulna 50% Congenital diaphragmatic hernia 50% Intestinal malrotation 50% Non-midline cleft lip 50% Postaxial foot polydactyly 50% Postaxial hand polydactyly 50% Preaxial foot polydactyly 50% Talipes 50% Toe syndactyly 50% Ventriculomegaly 50% Abnormality of the thorax - Aplasia/Hypoplasia of the tibia - Arachnoid cyst - Autosomal recessive inheritance - Choroid plexus cyst - Cleft upper lip - Posterior fossa cyst - Radial bowing - Talipes equinovarus - 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.
Source: GARD
Topic: Pars planitis
Question: What is (are) Pars planitis ?
Answer: Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop. Pars planitis most often affects young men and is generally not associated with any other disease or symptoms (idiopathic); however, it can be associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Treatment typically includes corticosteroid drugs, immunosuppressive medications, and/or surgery.
Source: GARD
Topic: Pars planitis
Question: What are the symptoms of Pars planitis ?
Answer: What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are bilateral (affecting both eyes), although one eye is typically more affected than the other. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop.
Source: GARD
Topic: Pars planitis
Question: What causes Pars planitis ?
Answer: What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Although most cases occur sporadically in people with no family history of the condition, pars planitis can rarely affect more than one family member. In these cases, there may be a genetic component; however, a disease-causing gene and specific inheritance pattern have not been identified.
Source: GARD
Topic: Pars planitis
Question: How to diagnose Pars planitis ?
Answer: How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a "hallmark" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.
Source: GARD
Topic: Pars planitis
Question: What are the treatments for Pars planitis ?
Answer: How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are not successful, other medications may be given to reduce the body's immune response (medications called immunosuppressants, such as methotrexate).  If medications are not effective, surgery may be considered. Cryotherapy has been performed in affected people to remove eye tissue that has inflammation. Although this surgery has been shown to be effective in restoring clarity of vision, there are concerns that it may cause damage to other parts of the eye. Another surgery, known as vitrectomy, can be done to remove cloudy fluid (vitreous humor) from the eye.
Source: GARD
Topic: Lipidosis with triglycerid storage disease
Question: What are the symptoms of Lipidosis with triglycerid storage disease ?
Answer: What are the signs and symptoms of Lipidosis with triglycerid storage disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipidosis with triglycerid storage disease. 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 lipid metabolism 90% Dry skin 90% Ichthyosis 90% Sensorineural hearing impairment 90% Abnormality of retinal pigmentation 50% Cognitive impairment 50% EMG abnormality 50% Hepatomegaly 50% Muscle weakness 50% Myopathy 50% Ptosis 50% Retinopathy 50% Short stature 50% Skeletal muscle atrophy 50% Abnormality of the aortic valve 7.5% Cataract 7.5% Cranial nerve paralysis 7.5% Diabetes mellitus 7.5% Incoordination 7.5% Nystagmus 7.5% Opacification of the corneal stroma 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.
Source: GARD
Topic: Duane syndrome type 3
Question: What is (are) Duane syndrome type 3 ?
Answer: Duane syndrome type 3 is a disorder of eye movement. The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms. In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion.
Source: GARD