Druvith/medqa huggingface dataset:
What are the symptoms of Battaglia-Neri syndrome ? 

What are the signs and symptoms of Battaglia-Neri syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Battaglia-Neri 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) Coarse facial features 90% Cognitive impairment 90% Delayed skeletal maturation 90% Hypertrichosis 90% Microcephaly 90% Scoliosis 90% Seizures 90% Autosomal recessive inheritance - Hirsutism - 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.
What are the symptoms of Hard skin syndrome Parana type ? 

What are the signs and symptoms of Hard skin syndrome Parana type? The Human Phenotype Ontology provides the following list of signs and symptoms for Hard skin syndrome Parana 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) Generalized hyperpigmentation 90% Limitation of joint mobility 90% Respiratory insufficiency 50% Tapered finger 50% Abnormality of the nipple 7.5% Hyperkeratosis 7.5% Hypertrichosis 7.5% Pectus carinatum 7.5% Round face 7.5% Short stature 7.5% Abnormality of the abdomen - Abnormality of the skin - Autosomal recessive inheritance - Restricted chest movement - Severe postnatal growth retardation - 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 symptoms of Spranger Schinzel Myers syndrome ? 

What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers 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) Ablepharon - Absent eyelashes - Agenesis of corpus callosum - Autosomal recessive inheritance - Bifid uterus - Calcaneovalgus deformity - Camptodactyly - Cataract - Cerebellar hypoplasia - Choroid plexus cyst - Cleft palate - Cleft upper lip - Clinodactyly - Cryptorchidism - Dandy-Walker malformation - Decreased fetal movement - Finger syndactyly - Generalized edema - Hydranencephaly - Hypertelorism - Intrauterine growth retardation - Joint contracture of the hand - Lissencephaly - Macrotia - Microcephaly - Micromelia - Microphthalmia - Patent ductus arteriosus - Patent foramen ovale - Polyhydramnios - Proptosis - Pterygium - Pulmonary hypoplasia - Radial deviation of finger - Renal agenesis - Rocker bottom foot - Short neck - Short umbilical cord - Sloping forehead - Small placenta - Spina bifida - Stillbirth - Thick lower lip vermilion - Toe syndactyly - Transposition of the great arteries - Ventricular septal defect - Yellow subcutaneous tissue covered by thin, scaly skin - 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 is (are) Primary Familial Brain Calcification ? 

Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.
What are the symptoms of Primary Familial Brain Calcification ? 

What are the signs and symptoms of Primary Familial Brain Calcification? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary Familial Brain Calcification. 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 neuronal migration 90% Cerebral calcification 90% Hepatomegaly 90% Intrauterine growth retardation 90% Microcephaly 90% Seizures 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Ventriculomegaly 90% Opacification of the corneal stroma 50% Abnormal pyramidal signs 5% Adult onset - Athetosis - Autosomal dominant inheritance - Basal ganglia calcification - Bradykinesia - Calcification of the small brain vessels - Chorea - Dense calcifications in the cerebellar dentate nucleus - Depression - Dysarthria - Dysdiadochokinesis - Dystonia - Gait disturbance - Hyperreflexia - Limb dysmetria - Mask-like facies - Memory impairment - Mental deterioration - Parkinsonism - Postural instability - Progressive - Psychosis - Rigidity - Tremor - Urinary incontinence - 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 Primary Familial Brain Calcification ? 

What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.
How to diagnose Primary Familial Brain Calcification ? 

How is primary familial brain calcification (PFBC) diagnosed? The diagnosis of PFBC relies upon:   1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging,  2) presence of progressive neurological dysfunction,  3) absence of a metabolic, infectious, toxic, or traumatic cause, and 4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition). Molecular genetic testing can help confirm the diagnosis. Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known? Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well s analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered.  Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered.
What are the treatments for Primary Familial Brain Calcification ? 

How might primary familial brain calcification (PFBC) be treated? There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments.
What are the symptoms of Athabaskan brainstem dysgenesis ? 

What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. 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 brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing 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 symptoms of GOMBO syndrome ? 

What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO 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 cardiovascular system morphology - Autosomal recessive inheritance - Brachydactyly syndrome - Clinodactyly - Delayed puberty - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Microphthalmia - Radial deviation of finger - 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 is (are) Urea cycle disorders ? 

A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function.
What are the symptoms of Tetralogy of fallot and glaucoma ? 

What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. 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 - Congenital glaucoma - Tetralogy of Fallot - 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 symptoms of Thyrotoxic periodic paralysis ? 

What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. 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) Goiter - Heterogeneous - Hyperthyroidism - Hypokalemia - Muscle weakness - Palpitations - Periodic paralysis - Rhabdomyolysis - 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 is (are) SAPHO syndrome ? 

SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.
What are the symptoms of SAPHO syndrome ? 

What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO 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) Bone pain 90% Chest pain 90% Hyperostosis 90% Increased bone mineral density 90% Osteolysis 90% Abnormality of the sacroiliac joint 50% Acne 50% Arthritis 50% Osteomyelitis 50% Palmoplantar pustulosis 50% Psoriasis 50% Abdominal pain 7.5% Cranial nerve paralysis 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Recurrent fractures 7.5% Skin rash 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Vasculitis 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.
What are the treatments for SAPHO syndrome ? 

How might SAPHO syndrome be treated? There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne. Other drugs that may be used include: Colchicine Topical corticosteroids Systemic corticosteroids Methotrexate Calcitonin Bisphosphonates Infliximab Etanercept.
What is (are) Necrotizing fasciitis ? 

Necrotizing fasciitis is a serious infection of the skin, subcutaneous tissue (tissue just beneath the skin) and fascia. The infection can arise suddenly and spread quickly. Necrotizing fasciitis can be caused by several different types of bacteria. Early signs include flu-like symptoms and redness and pain around the infection site. If the infection is not treated promptly, it can lead to multiple organ failure and death. As a result, prompt diagnosis and treatment is essential. Treatment typically includes intravenous antibiotics and surgery to remove infected and dead tissue.
What are the symptoms of Necrotizing fasciitis ? 

What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some early symptoms may be mistaken for the flu and can include fever, sore throat, stomach ache, nausea, diarrhea, chills, and general body aches. The patient may notice redness around the area which spreads quickly; the affected area can eventually become swollen, shiny, discolored, and hot to the touch. In addition, there may be ulcers or blisters. If the infection continues to spread, the patient may experience the following: dehydration, high fever, fast heart rate, and low blood pressure. Pain may actually improve as tissues and the nerves are destroyed. As the infection spreads, vital organs may be affected and the patient may become confused or delirious. If not successfully treated, NF can lead to shock and eventual death.
What causes Necrotizing fasciitis ? 

What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. Although necrotizing fasciitis most frequently develops after trauma that causes a break in the skin, it can also develop after minor trauma that occurs without a break in the skin. NF can occur as a complication of a surgical procedure; it can also occur at the site of a relatively minor injury such as an insect bite or an injection. In addition, underlying illnesses which weaken the immune system may increase the risk that a person will develop NF. Studies have even suggested a possible relationship between the use of nonsteroidal anti-inflammatory medications (NSAIDs) during varicella infections and the development of necrotizing fasciitis.