sarnsrun/medquadmini huggingface dataset:
Question:
What are the symptoms of Adult neuronal ceroid lipofuscinosis ?

Answer:
What are the signs and symptoms of Adult neuronal ceroid lipofuscinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult neuronal ceroid lipofuscinosis. 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) Abnormal pyramidal signs 90% Abnormality of extrapyramidal motor function 90% Behavioral abnormality 90% Developmental regression 90% Incoordination 90% Involuntary movements 90% Seizures 90% Retinopathy 7.5% Visual impairment 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.
Question:
What is (are) Myhre syndrome ?

Answer:
Myhre syndrome is a rare inherited disorder characterized by intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.
Question:
What causes Myhre syndrome ?

Answer:
What causes Myhre syndrome? Myhre syndrome is caused by mutations in the SMAD4 gene. This gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface to the nucleus. This signaling pathway, called the transforming growth factor beta (TGF-) pathway, allows the environment outside the cell to affect how the cell produces other proteins. As part of this pathway, the SMAD4 protein interacts with other proteins to control the activity of particular genes. These genes influence many areas of development. Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
Question:
Is Myhre syndrome inherited ?

Answer:
How is Myhre syndrome inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Question:
What are the treatments for Myhre syndrome ?

Answer:
How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. Early intervention is important to help ensure that children with Myhre syndrome reach their full potential.
Question:
What are the symptoms of Maple syrup urine disease type 1B ?

Answer:
What are the signs and symptoms of Maple syrup urine disease type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1B. 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) Ataxia - Autosomal recessive inheritance - Cerebral edema - Coma - Elevated plasma branched chain amino acids - Feeding difficulties in infancy - Growth abnormality - Hypertonia - Hypoglycemia - Intellectual disability - Ketosis - Lactic acidosis - Lethargy - Vomiting - 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 Cardioskeletal syndrome Kuwaiti type ?

Answer:
What are the signs and symptoms of Cardioskeletal syndrome Kuwaiti type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioskeletal syndrome Kuwaiti 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) Abnormal form of the vertebral bodies 90% Abnormality of the metaphyses 90% Accelerated skeletal maturation 90% Atria septal defect 90% Limb undergrowth 90% Narrow chest 90% Short stature 90% Ventricular septal defect 90% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the ribs 50% Abnormality of the tricuspid valve 50% Kyphosis 50% Abnormality of cardiovascular system morphology - Autosomal recessive inheritance - Skeletal dysplasia - 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) Benign hereditary chorea ?

Answer:
Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.
Question:
What are the symptoms of Benign hereditary chorea ?

Answer:
What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. 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) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:
What are the symptoms of Pinheiro Freire-Maia Miranda syndrome ?

Answer:
What are the signs and symptoms of Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda 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) Abnormal hair quantity 90% Abnormality of dental morphology 90% Abnormality of the eyelashes 90% Fine hair 90% Reduced number of teeth 90% Delayed eruption of teeth 50% Hyperlordosis 50% Increased number of teeth 50% Palmoplantar keratoderma 50% Scoliosis 50% Sparse lateral eyebrow 50% Abnormality of female internal genitalia 7.5% Abnormality of the hip bone 7.5% Adenoma sebaceum 7.5% Cafe-au-lait spot 7.5% Hypermetropia 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.
Question:
What is (are) Familial prostate cancer ?

Answer:
Familial prostate cancer is a cluster of prostate cancer within a family. Most cases of prostate cancer occur sporadically in people with no family history of the condition. However, approximately 5% to 10% of prostate cancer cases are believed to be primarily caused by a genetic predisposition to the condition. In many families, the underlying genetic cause is unknown; however, some of these cases are caused by changes (mutations) in the BRCA1, BRCA2, HOXB13, or several other genes. Other cases are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening at an earlier age is typically recommended in men who have an increased risk for prostate cancer based on personal and/or family histories.
Question:
What are the symptoms of Familial prostate cancer ?

Answer:
What are the signs and symptoms of Familial prostate cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial prostate cancer. 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 - Neoplasm - Prostate cancer - 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 Epiphyseal dysplasia hearing loss dysmorphism ?

Answer:
What are the signs and symptoms of Epiphyseal dysplasia hearing loss dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. 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) Abnormal dermatoglyphics 90% Abnormality of the wrist 90% Anteverted nares 90% Behavioral abnormality 90% Cognitive impairment 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Facial asymmetry 90% Hypertelorism 90% Hypopigmented skin patches 90% Proximal placement of thumb 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Wide mouth 90% Abnormality of the genital system 50% Deep philtrum 50% Finger syndactyly 50% Long philtrum 50% Ptosis 50% Scoliosis 50% Abnormal localization of kidney 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.
Question:
What are the symptoms of Penttinen-Aula syndrome ?

Answer:
What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula 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) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - 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) Limb dystonia ?

Answer:
Limb dystonia is characterized by excessive pulling of the muscles of a limb, such as the hand or foot. The arm or leg might also be involved. Specific symptoms depend on the combinations of muscles involved and how hard each one is pulling. Mild forms may be expressed as stiffness or soreness of a limb; more moderate forms are characterized by unwanted movements or postures; and in severe forms, abnormal postures may become fixed. Common examples of limb dystonia include writer's cramp and musician's dystonia. In most cases, the cause of limb dystonia remains unknown. Treatment is challenging. Botulinum toxin injection, oral medications, and physical therapy may help some patients.
Question:
What are the symptoms of Johnson neuroectodermal syndrome ?

Answer:
What are the signs and symptoms of Johnson neuroectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnson neuroectodermal 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 genital system 90% Alopecia 90% Abnormality of the eyelashes 50% Abnormality of the pinna 50% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Cognitive impairment 50% Conductive hearing impairment 50% Facial asymmetry 50% Facial palsy 50% Short stature 50% Abnormal nasal morphology 7.5% Abnormality of the sense of smell 7.5% Cafe-au-lait spot 7.5% Choanal atresia 7.5% Cleft palate 7.5% Developmental regression 7.5% Hypohidrosis 7.5% Microcephaly 7.5% Preaxial hand polydactyly 7.5% Tetralogy of Fallot 7.5% Choanal stenosis 5% Decreased testicular size 5% Micropenis 5% Patent ductus arteriosus 5% Retrognathia 5% Right aortic arch 5% Sparse hair 5% Ventricular septal defect 5% Absent eyebrow - Absent eyelashes - Anosmia - Atresia of the external auditory canal - Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - Intellectual disability - Microtia - Multiple cafe-au-lait spots - Protruding ear - 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 Hypomagnesemia primary ?

Answer:
What are the signs and symptoms of Hypomagnesemia primary? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia primary. 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) Abdominal pain - Astigmatism - Autosomal recessive inheritance - Chronic kidney disease - Failure to thrive - Feeding difficulties in infancy - Hematuria - Hypercalciuria - Hypermagnesiuria - Hypermetropia - Hyperuricemia - Hypocitraturia - Hypomagnesemia - Juvenile onset - Myopia - Nephrocalcinosis - Nephrolithiasis - Nystagmus - Polydipsia - Polyuria - Recurrent urinary tract infections - Renal calcium wasting - Renal magnesium wasting - Renal tubular acidosis - Seizures - Strabismus - Tetany - 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) Nonseminomatous germ cell tumor ?

Answer:
Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type). Possible early signs of this cancer include chest pain and breathing problems.