Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia ?
Answer: What are the signs and symptoms of Mastocytosis cutaneous with short stature conductive hearing loss and microtia? The Human Phenotype Ontology provides the following list of signs and symptoms for Mastocytosis cutaneous with short stature conductive hearing loss and microtia. 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 fontanelles or cranial sutures 90% Abnormality of the outer ear 90% Abnormality of the palate 90% Camptodactyly of finger 90% Clinodactyly of the 5th finger 90% Conductive hearing impairment 90% Hypermelanotic macule 90% Mastocytosis 90% Microcephaly 90% Muscular hypotonia 90% Optic atrophy 90% Proptosis 90% Pruritus 90% Seizures 90% Short stature 90% Thick lower lip vermilion 90% Triangular face 90% Upslanted palpebral fissure 90% Urticaria 90% Abnormal nasal morphology 7.5% Lower limb asymmetry 7.5% Prominent supraorbital ridges 7.5% Scoliosis 7.5% Abnormality of metabolism/homeostasis - Abnormality of skin pigmentation - Autosomal recessive inheritance - Cutaneous mastocytosis - Feeding difficulties - High palate - Intellectual disability - Microtia - Underdeveloped nasal alae - Wide nasal bridge - 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) Osteopetrosis autosomal recessive 2 ?
Answer: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Question:  What are the symptoms of Osteopetrosis autosomal recessive 2 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal recessive 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. 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) Anemia - Autosomal recessive inheritance - Blindness - Carious teeth - Chronic rhinitis due to narrow nasal airway - Cranial hyperostosis - Diaphyseal sclerosis - Extramedullary hematopoiesis - Facial paralysis - Genu valgum - Hepatosplenomegaly - Mandibular osteomyelitis - Mandibular prognathia - Optic atrophy - Osteopetrosis - Pancytopenia - Persistence of primary teeth - Recurrent fractures - Thrombocytopenia - 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 Isotretinoin embryopathy like syndrome ?
Answer: What are the signs and symptoms of Isotretinoin embryopathy like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Isotretinoin embryopathy like 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) Atresia of the external auditory canal 90% Low-set, posteriorly rotated ears 90% Ventricular septal defect 90% Abnormality of the aorta 50% Abnormality of the nose 50% Anterior creases of earlobe 50% Atria septal defect 50% High forehead 50% Hypertelorism 50% Oral cleft 50% Overfolded helix 50% Patent ductus arteriosus 50% Preauricular skin tag 50% Prominent occiput 50% Short neck 50% Abnormality of the posterior cranial fossa - Anotia - Autosomal recessive inheritance - Cleft palate - Conotruncal defect - Hydrocephalus - Microtia - 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) Nevoid basal cell carcinoma syndrome ?
Answer: Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene.
Question:  Is Nevoid basal cell carcinoma syndrome inherited ?
Answer: How is nevoid basal cell carcinoma syndrome inherited? Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way.  This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not.  Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone.  As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS.
Question:  What are the treatments for Nevoid basal cell carcinoma syndrome ?
Answer: How might nevoid basal cell carcinoma syndrome be treated? The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists). If a medulloblastoma is detected early enough, it may be treated by surgery and chemotherapy. Jaw keratocysts usually need to be surgically removed. Early treatment of basal cell carcinomas is necessary to prevent long-term cosmetic problems, particularly on the face. Surgical removal is often supplemented by other treatments such as cryotherapy, laser treatment, and/or photodynamic therapy. Radiation therapy is not recommended because it can provoke the development of more tumors. Some people may need long term treatment with oral retinoids such as isotretinoin or acitretin. Cardiac fibromas may not cause symptoms, but they should be monitored by a cardiologist. If ovarian fibromas need surgical treatment, it is typically recommended that ovarian tissue is preserved even though it involves a risk of recurrence.
Question:  What is (are) Non 24 hour sleep wake disorder ?
Answer: Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role.
Question:  What are the symptoms of Non 24 hour sleep wake disorder ?
Answer: What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. 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) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 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.
Question:  What are the symptoms of Achromatopsia 3 ?
Answer: What are the signs and symptoms of Achromatopsia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Achromatopsia 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) Achromatopsia - Autosomal recessive inheritance - Cataract - Dyschromatopsia - Horizontal pendular nystagmus - Monochromacy - Photophobia - Severe Myopia - Severe 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.
Question:  What are the symptoms of IMAGe syndrome ?
Answer: What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe 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 adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - 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) Hyperkalemic periodic paralysis ?
Answer: Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and long periods without food. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness, particularly in muscles of the face and hands. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant fashion.
Question:  What are the symptoms of Hyperkalemic periodic paralysis ?
Answer: What are the signs and symptoms of Hyperkalemic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic 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) Cerebral palsy 90% EMG abnormality 90% Gait disturbance 50% Hyperkalemia 50% Involuntary movements 50% Myalgia 50% Myotonia 50% Arrhythmia 7.5% Bowel incontinence 7.5% Chest pain 7.5% Congestive heart failure 7.5% Feeding difficulties in infancy 7.5% Flexion contracture 7.5% Hypertonia 7.5% Hypokalemia 7.5% Hyponatremia 7.5% Malignant hyperthermia 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Paresthesia 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Skeletal muscle hypertrophy 7.5% Autosomal dominant inheritance - Episodic flaccid weakness - Infantile onset - Periodic hyperkalemic paralysis - 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 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?
Answer: What are the signs and symptoms of Retinal arterial macroaneurysm with supravalvular pulmonic stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal arterial macroaneurysm with supravalvular pulmonic stenosis. 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 - Exudative retinal detachment - Pulmonic stenosis - 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 Ectodermal dysplasia adrenal cyst ?
Answer: What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail 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) Long QT syndrome 8 ?
Answer: Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. Other symptoms of Timothy syndrome include fusion of the skin between fingers or toes and distinctive facial features. In addition, many children with this syndrome have developmental delay and characteristic features of autism. Mental retardation and seizures can also occur in children with Timothy syndrome. There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.
Question:  What are the symptoms of Long QT syndrome 8 ?
Answer: What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. 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) Prolonged QT interval - Sudden death - Syndactyly - 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.