sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Morquio syndrome B ?

Answer:
What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. 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) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - Widely spaced teeth - 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 16q deletion ?

Answer:
Chromosome 16q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 16q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 16q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 16. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Question:
What are the symptoms of Anemia sideroblastic and spinocerebellar ataxia ?

Answer:
What are the signs and symptoms of Anemia sideroblastic and spinocerebellar ataxia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anemia sideroblastic and spinocerebellar ataxia. 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) Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Abnormality of movement 50% Cognitive impairment 50% Hyperreflexia 50% Intrauterine growth retardation 7.5% Muscular hypotonia 7.5% Scoliosis 7.5% Strabismus 7.5% Abnormality of metabolism/homeostasis - Babinski sign - Clonus - Dysarthria - Dysdiadochokinesis - Dysmetria - Hypochromic microcytic anemia - Intention tremor - Juvenile onset - Nonprogressive cerebellar ataxia - Sideroblastic anemia - 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.
Question:
What are the symptoms of SCARF syndrome ?

Answer:
What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF 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 palate 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - 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.
Question:
What is (are) Mercury poisoning ?

Answer:
Mercury poisoning is a condition that occurs in people who are exposed to toxic levels of the element, mercury. There are three different forms of mercury that can cause health problems: Elemental mercury (also known as liquid mercury or quicksilver) can be found in glass thermometers, electrical switches, dental fillings and fluorescent light bulbs. This form of mercury is generally only harmful when small droplets become airborne and are inhaled. If this occurs, signs and symptoms of poisoning may include metallic taste, vomiting, difficulty breathing, coughing, and/or swollen, bleeding gums. In severe cases, long-term brain damage, permanent lung damage and even death may occur. Inorganic mercury is found in batteries, chemistry labs, and some disinfectants. This form of mercury is harmful when swallowed. Signs and symptoms of inorganic mercury poisoning vary based on the amount consumed, but may include burning in the stomach and throat; vomiting; and/or bloody diarrhea. Inorganic mercury can also affect the kidneys and brain if it enters the blood stream. Organic mercury can be found in fish. Some organisms convert fumes from burning coal into organic mercury. This form of mercury is harmful if inhaled, eaten, or placed on the skin for long periods of time. Long-term exposure to organic mercury may result in skin numbness or pain; tremor; inability to walk well; blindness; double vision; memory problems; seizures; or even death. Treatment is generally supportive and based on the signs and symptoms present in each person. Medications called chelators, which remove mercury and heavy metals from the body, are generally prescribed.
Question:
What are the symptoms of Chudley-Mccullough syndrome ?

Answer:
What are the signs and symptoms of Chudley-Mccullough syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chudley-Mccullough 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) Intellectual disability, mild 5% Seizures 5% Arachnoid cyst - Autosomal recessive inheritance - Cerebellar dysplasia - Cerebellar hypoplasia - Dysplastic corpus callosum - Gray matter heterotopias - Hydrocephalus - Hypoplasia of the corpus callosum - Large foramen magnum - Partial agenesis of the corpus callosum - Polymicrogyria - Severe sensorineural hearing impairment - Ventriculomegaly - 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) Warthin tumor ?

Answer:
Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. Treatment may consist of surgery to remove the tumor or careful observation to watch for changes in the tumor over time.
Question:
What are the symptoms of Warthin tumor ?

Answer:
What are the signs and symptoms of Warthin tumor? Warthin tumor is a benign (noncancerous) tumor of the salivary glands. They most commonly arise in the parotid glands, the largest salivary glands which are located in each cheek above the jaw in front of the ears. Approximately 5-14% of cases are bilateral and 12-20% of affected people experience multicentric (more than one tumor which formed separately from one another) disease. The first symptom is usually a firm, painless bump. Without treatment, the swelling may gradually increase overtime which can cause facial nerve palsy (difficulty moving one side of the face).
Question:
What causes Warthin tumor ?

Answer:
What causes Warthin tumor? The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor.
Question:
How to diagnose Warthin tumor ?

Answer:
How is Warthin tumor diagnosed? A diagnosis of Warthin tumor is often suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis and rule out other conditions that cause similar features: X-rays of the salivary gland (called a ptyalogram or sialogram) CT scan, MRI and/or ultrasound Salivary gland biopsy
Question:
What are the treatments for Warthin tumor ?

Answer:
How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed.
Question:
What are the symptoms of Karak syndrome ?

Answer:
What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak 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) Autosomal recessive inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Cerebral atrophy - Chorea - Delayed speech and language development - Dysarthria - Dysdiadochokinesis - Dysmetria - Dysphagia - Dystonia - Emotional lability - Feeding difficulties - Gait ataxia - Hyperactivity - Impaired smooth pursuit - Impulsivity - Intention tremor - Mental deterioration - Neurodegeneration - Neurofibrillary tangles - Nystagmus - Optic atrophy - Phenotypic variability - Progressive - Seizures - Short attention span - Spasticity - Talipes calcaneovalgus - 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 Dystonia 11 ?

Answer:
What are the signs and symptoms of Dystonia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 11. 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) Muscular hypotonia 5% Agoraphobia - Anxiety - Autosomal dominant inheritance - Depression - Incomplete penetrance - Juvenile onset - Myoclonus - Obsessive-compulsive behavior - Torticollis - Tremor - Writer's cramp - 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) Sotos syndrome ?

Answer:
Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).
Question:
What are the symptoms of Sotos syndrome ?

Answer:
What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos 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) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - Ventricular septal defect - 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 Sotos syndrome inherited ?

Answer:
How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.