bowang0911/MedQuAD huggingface dataset:
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.
What are the signs and symptoms of Methylmalonic acidemia with homocystinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylmalonic acidemia with homocystinuria. 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 oral cavity 90% Anorexia 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hydrocephalus 90% Megaloblastic anemia 90% Microcephaly 90% Muscular hypotonia 90% Pallor 90% Reduced consciousness/confusion 90% Retinopathy 90% Seizures 90% Behavioral abnormality 50% Gait disturbance 50% Infantile onset 50% Skin rash 7.5% Abnormality of extrapyramidal motor function - Autosomal recessive inheritance - Cerebral cortical atrophy - Confusion - Cystathioninemia - Cystathioninuria - Decreased adenosylcobalamin - Decreased methionine synthase activity - Decreased methylcobalamin - Decreased methylmalonyl-CoA mutase activity - Dementia - Failure to thrive - Hematuria - Hemolytic-uremic syndrome - High forehead - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Intellectual disability - Lethargy - Long face - Low-set ears - Macrotia - Metabolic acidosis - Methylmalonic acidemia - Methylmalonic aciduria - Nephropathy - Neutropenia - Nystagmus - Pigmentary retinopathy - Proteinuria - Reduced visual acuity - Renal insufficiency - Smooth philtrum - Thrombocytopenia - Thromboembolism - Tremor - 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.
What are the signs and symptoms of Papillon Lefevre syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillon Lefevre 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 fingernails 90% Gingivitis 90% Palmoplantar keratoderma 90% Periodontitis 90% Premature loss of primary teeth 90% Pustule 90% Reduced number of teeth 90% Cerebral calcification 50% Recurrent respiratory infections 50% Skin ulcer 50% Arachnodactyly 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Liver abscess 7.5% Melanoma 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Atrophy of alveolar ridges - Autosomal recessive inheritance - Choroid plexus calcification - Palmoplantar hyperkeratosis - Premature loss of teeth - Severe periodontitis - 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.
What are the signs and symptoms of Cerebral palsy ataxic? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral palsy ataxic. 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 - Broad-based gait - Cerebellar atrophy - Cerebral palsy - Dysarthria - Dysdiadochokinesis - Horizontal nystagmus - Infantile onset - Motor delay - 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.
What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 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) Hypocalciuria 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Dehydration - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperchloridura - Hypokalemia - Hypokalemic metabolic alkalosis - Hypotension - Impaired reabsorption of chloride - Increased circulating renin level - Increased urinary potassium - Polyuria - Renal potassium wasting - Renal salt wasting - 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.
What are the signs and symptoms of Hydrocephalus obesity hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrocephalus obesity hypogonadism. 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% Cryptorchidism 90% Hydrocephalus 90% Hypoplasia of penis 90% Obesity 90% Short stature 90% Respiratory insufficiency 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.
Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The earliest symptom is a slight blurring of vision that cannot be corrected with glasses. Over time, there may be eye halos, glare, or other night vision problems.The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role. Treatment for keratoconus depends on the severity of your condition and how quickly the condition is progressing. Mild to moderate keratoconus can be treated with eyeglasses or contact lenses. In some people the cornea becomes scarred or wearing contact lenses becomes difficult. In these cases, surgery might be necessary.
What are the signs and symptoms of Keratoconus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus. 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) Astigmatism - Autosomal dominant inheritance - Heterogeneous - Keratoconus - Young adult onset - 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.
What causes keratoconus? The exact cause of keratoconus is unknown. Both genetic and environmental factors may play a role in the development of keratoconus. The genetic factors involve abnormalities in the structure of collagen, which result in a weak and flexible cornea. Keratoconus is more common in people with Down syndrome, Marfan syndrome, and Leber congenital amaurosis, and certain genetic conditions. In these cases, the cause depends on the specific condition.  Environmental factors may include living in sunny, hot areas of the world, while eye-rubbing is a major behavioral factor in the disease. Malfunctioning enzymes that normally help maintain the health of the cornea may play a role. All of these factors contribute to the main problem in keratoconus, which is the defective collagen structure that results in thinning and irregularity of the cornea. Keratoconus occurs more frequently in patients with atopy (asthma and eczema) or severe ocular allergies. It may also be linked to hormonal factors because it is more frequent during puberty and also may progress during pregnancy.
5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.
What are the signs and symptoms of 5q14.3 microdeletion syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for 5q14.3 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) Autism 90% Broad forehead 90% Cognitive impairment 90% High forehead 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Aplasia/Hypoplasia of the corpus callosum 50% Short nose 50% Short philtrum 50% Stereotypic behavior 50% Upslanted palpebral fissure 50% Ventriculomegaly 50% Anteverted nares 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Cerebral cortical atrophy 7.5% Deeply set eye 7.5% Open mouth 7.5% Optic atrophy 7.5% Strabismus 7.5% Thick eyebrow 7.5% Toe syndactyly 7.5% Abnormality of the periventricular white matter 5% Epileptic encephalopathy 5% Depressed nasal bridge - Downturned corners of mouth - Hypertelorism - Inability to walk - Intellectual disability, severe - Low-set ears - Motor delay - Poor eye contact - Short chin - 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.
Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination.  MSA affects both men and women primarily in their 50s.  The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. The cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. Most cases are sporadic, meaning they occur at random. A possible risk factor for the disease is variations in the synuclein gene SCNA, which provides instructions for the production of alpha-synuclein. A characteristic feature of MSA is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. These deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). This protein also accumulates in Parkinsons disease, but in nerve cells. Because they both have a buildup of alpha-synuclein in cells, MSA and Parkinsons disease are sometimes referred to as synucleinopathies.  There is no cure for this condition, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.
What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. 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 5% Adult onset - Anhidrosis - Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Babinski sign - Bradykinesia - Dysarthria - Dysautonomia - Gaze-evoked nystagmus - Hyperreflexia - Hypohidrosis - Impotence - Iris atrophy - Neurodegeneration - Olivopontocerebellar atrophy - Orthostatic hypotension - Parkinsonism - Phenotypic variability - Postural instability - Progressive - Ptosis - Rigidity - Skeletal muscle atrophy - Sporadic - Tremor - Urinary incontinence - Urinary urgency - 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.
Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputation. When this happens the baby is said to have amniotic band syndrome. Amniotic bands are thought to happen sporadically or in association with trauma to the abdomen. It can be a complication after an amniocentesis and/or it can indicate early rupture of the amniotic sac.
What are the signs and symptoms of Amniotic band syndrome? The symptoms of amniotic band syndrome depend on the severity and location of the constrictions. The mildest constrictions affect only the superficial skin and may not require treatment. Deeper constrictions may block lymphatic vessels, impair blood flow, and require immediate surgical care. When the bands affect the limbs, the lower part of the limbs are most often involved, especially the middle, long, and index fingers of the hand. When the feet are involved, the bands most commonly affect the big toe. Pressure from the bands may result in additional abnormalities, such as underdevelopment of a limb, bone abnormalities, amputations, leg-length discrepancy, and club feet. Constriction bands across the head and face may lead to facial clefts. Severe clefts affecting vital organs are often life-threatening. The Human Phenotype Ontology provides the following list of signs and symptoms for Amniotic band 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) Amniotic constriction ring 90% Finger syndactyly 90% Split hand 90% Talipes 90% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the radius 50% Lymphedema 50% Oligohydramnios 50% Scoliosis 50% Abnormal lung lobation - Abnormality of the rib cage - Bladder exstrophy - Cleft eyelid - Cleft palate - Cleft upper lip - Ectopia cordis - Encephalocele - Facial cleft - Gastroschisis - Hand polydactyly - Omphalocele - Sporadic - Syndactyly - 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.