Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Congenital disorders of glycosylation ?
Answer: What are the signs and symptoms of Congenital disorders of glycosylation? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital disorders of glycosylation. 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 adipose tissue 90% Abnormality of coagulation 90% Abnormality of immune system physiology 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the cerebellum 90% Aplasia/Hypoplasia of the nipples 90% Cerebral cortical atrophy 90% Cognitive impairment 90% Elevated hepatic transaminases 90% Strabismus 90% Abnormality of the genital system 50% Abnormality of the pericardium 50% Broad forehead 50% Hypertrophic cardiomyopathy 50% Hypoglycemia 50% Seizures 50% Abnormality of the intestine 7.5% Ascites 7.5% Nephropathy 7.5% Peripheral neuropathy 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) Usher syndrome, type 1E ?
Answer: Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
Question:  What are the symptoms of Usher syndrome, type 1E ?
Answer: What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. 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 - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular areflexia - 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 Usher syndrome, type 1E inherited ?
Answer: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Question:  What is (are) Microcystic adnexal carcinoma ?
Answer: Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well.  The average age of diagnosis is 56.  This tumor is often first noticed as a bump or yellowish spot in the skin.  Though microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes). The main treatment for microcystic adnexal carcinoma is Mohs micrographic surgery, which is thought to improve the chances that all of the tumor cells are removed during surgery.
Question:  What are the symptoms of Microcystic adnexal carcinoma ?
Answer: What are the symptoms of microcystic adnexal carcinoma? Microcystic adnexal carcinoma appears as a smooth bump or patch that is slightly raised from the surrounding skin.  It may be flesh-colored or yellowish, and it increases in size over time.  A microcystic adnexal carcinoma may grow into nerves nearby, which can cause discomfort, numbness, tingling (paresthesia), burning, or itching.
Question:  What are the treatments for Microcystic adnexal carcinoma ?
Answer: Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease.  There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective.  Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done.  However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor.
Question:  What are the symptoms of Cataract congenital Volkmann type ?
Answer: What are the signs and symptoms of Cataract congenital Volkmann type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann 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) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - 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 Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert ?
Answer: What are the signs and symptoms of Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert? The Human Phenotype Ontology provides the following list of signs and symptoms for Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert. 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) Hypertension 5% Aplasia/Hypoplasia involving the central nervous system - Ataxia - Autosomal recessive inheritance - Brain atrophy - Broad-based gait - Cutis marmorata - Dementia - Dysarthria - Emotional lability - Hemianopia - Migraine - Pseudobulbar signs - Seizures - Telangiectases producing 'marbled' skin - 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 are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ?
Answer: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type 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) Segmental peripheral demyelination 5% Areflexia - Autosomal dominant inheritance - Axonal degeneration - Decreased number of peripheral myelinated nerve fibers - Distal sensory impairment - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - 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 Genu valgum, st Helena familial ?
Answer: What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. 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 - Genu valgum - 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) Sprengel deformity ?
Answer: Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.
Question:  What are the symptoms of Sprengel deformity ?
Answer: What are the signs and symptoms of Sprengel deformity? Signs and symptoms of Sprengel deformity can vary depending on the severity and whether additional skeletal or muscular abnormalities are present. Some people may not have noticeable signs or symptoms. It more commonly occurs on the left side, but can occur on both sides (bilaterally). In addition to shoulder asymmetry, the elevated shoulder blade may cause a lump in the back of the base of the neck; underdeveloped or incomplete muscles in the surrounding area; and limited movement of the shoulder and arm on the affected side. Some people have bone, cartilage or fiber- like tissue between the shoulder blade and the spinal bones (vertebrae) next to it. Other features that have been found in association with Sprengel deformity include: scoliosis Klippel Feil syndrome limb length discrepancy an underdeveloped backbone (hemivertebrae) missing, fused, or extra ribs (cervical ribs) abnormalities of the collarbone abnormalities of the chest organs of the body displaced on the opposite side (ex: liver on the left and heart on the right) spina bifida occulta cleft palate The Human Phenotype Ontology provides the following list of signs and symptoms for Sprengel deformity. 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 shoulder 90% Sprengel anomaly 90% Cleft palate 7.5% Autosomal dominant inheritance - Cervical segmentation defect - Hemivertebrae - Neck muscle hypoplasia - Rib segmentation abnormalities - Scoliosis - Shoulder muscle hypoplasia - Spina bifida occulta - Sporadic - 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 treatments for Sprengel deformity ?
Answer: How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered.
Question:  What are the symptoms of Congenital intrauterine infection-like syndrome ?
Answer: What are the signs and symptoms of Congenital intrauterine infection-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital intrauterine infection-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) Cerebral calcification 90% Hyperreflexia 90% Hypertonia 90% Microcephaly 90% Seizures 90% Abnormality of movement 50% Cerebral cortical atrophy 50% Cataract 5% Opacification of the corneal stroma 5% Renal insufficiency 5% Anteverted nares - Autosomal recessive inheritance - Cerebellar hypoplasia - Decreased liver function - Elevated hepatic transaminases - Failure to thrive - Hepatomegaly - High palate - Increased CSF protein - Intellectual disability, profound - Jaundice - Lissencephaly - Long philtrum - Low-set ears - Microretrognathia - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Petechiae - Phenotypic variability - Polymicrogyria - Sloping forehead - Spasticity - Splenomegaly - Thrombocytopenia - 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 are the symptoms of Robinow Sorauf syndrome ?
Answer: What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf 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 dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - 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) Olivopontocerebellar atrophy ?
Answer: Olivopontocerebellar atrophy (OPCA) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. It occurs in several neurodegenerative diseases, including multiple system atrophy (MSA) and inherited and non-inherited forms of ataxia. OPCA may also occur in people with prion disorders and inherited metabolic diseases. The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known. There is no cure for OPCA, and management aims to treat symptoms and prevent complications.