Druvith/medqa1 huggingface dataset:
Question:  What are the symptoms of Microphthalmia syndromic 8 ?
Answer: What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 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) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - 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 Mesomelic dwarfism of hypoplastic tibia and radius type ?
Answer: What are the signs and symptoms of Mesomelic dwarfism of hypoplastic tibia and radius type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dwarfism of hypoplastic tibia and radius 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) Autosomal dominant inheritance - Hypoplasia of the radius - Mesomelic short stature - Neonatal short-limb short stature - Pseudoarthrosis - Short tibia - 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) Infantile-onset ascending hereditary spastic paralysis ?
Answer: Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.
Question:  What are the symptoms of Infantile-onset ascending hereditary spastic paralysis ?
Answer: What are the signs and symptoms of Infantile-onset ascending hereditary spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile-onset ascending hereditary spastic 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) Abnormal pyramidal signs 90% Feeding difficulties in infancy 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Neurological speech impairment 90% Abnormality of eye movement 50% Pseudobulbar signs 50% Abnormal lower motor neuron morphology - Abnormality of the corticospinal tract - Abnormality of the eye - Abnormality of the face - Achilles tendon contracture - Anarthria - Autosomal recessive inheritance - Babinski sign - Chewing difficulties - Dysarthria - Infantile onset - Motor delay - Muscle weakness - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic paraplegia - Spastic tetraplegia - Tetraplegia - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question:  What is (are) Polyembryoma ?
Answer: Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women).  Such tumors are called germ cell tumors.  Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.  Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation.  Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy.  The cause of polyembryoma is not yet known.
Question:  What are the treatments for Polyembryoma ?
Answer: How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition.  However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible.  Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain.
Question:  What is (are) Osteopetrosis autosomal dominant type 1 ?
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 dominant type 1 ?
Answer: What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 1. 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 pelvic girdle bone morphology - Abnormality of the vertebral column - Autosomal dominant inheritance - Conductive hearing impairment - Generalized osteosclerosis - Headache - Osteopetrosis - Thickened calvaria - 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) Maffucci syndrome ?
Answer: Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.
Question:  What are the symptoms of Maffucci syndrome ?
Answer: What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci 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 metaphyses 90% Abnormality of the skin 90% Cavernous hemangioma 90% Lower limb asymmetry 90% Micromelia 90% Multiple enchondromatosis 90% Osteolysis 90% Recurrent fractures 90% Thrombophlebitis 90% Visceral angiomatosis 90% Abnormal joint morphology 50% Bone pain 50% Exostoses 50% Limitation of joint mobility 50% Scoliosis 50% Short stature 50% Abnormality of coagulation 7.5% Anemia 7.5% Cerebral palsy 7.5% Cranial nerve paralysis 7.5% Feeding difficulties in infancy 7.5% Goiter 7.5% Lymphangioma 7.5% Neoplasm of the adrenal gland 7.5% Neoplasm of the breast 7.5% Neoplasm of the nervous system 7.5% Neoplasm of the parathyroid gland 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Skin ulcer 7.5% Chondrosarcoma - 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 Maffucci syndrome ?
Answer: How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. Orthopedic surgeon: An orthopedic surgeon may be consulted to evaluate bone changes and skeletal neoplasms and to help in treatment of fractures associated with the disease. Dermatologist: A dermatologist may be consulted to evaluate hemangiomas associated with the condition and to identify any new lesions on the skin.
Question:  What are the symptoms of Oculocutaneous albinism type 3 ?
Answer: What are the signs and symptoms of Oculocutaneous albinism type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 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) Nystagmus 90% Ocular albinism 90% Freckling 50% Strabismus 50% Cutaneous photosensitivity 7.5% Albinism - Autosomal recessive inheritance - Partial albinism - Red hair - 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 Hirschsprung disease type 3 ?
Answer: What are the signs and symptoms of Hirschsprung disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hirschsprung disease type 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) Aganglionic megacolon - Autosomal dominant 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 Verloes Bourguignon syndrome ?
Answer: What are the signs and symptoms of Verloes Bourguignon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloes Bourguignon 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) Hypoplasia of the maxilla 5% Mandibular prognathia 5% Amelogenesis imperfecta - Autosomal recessive inheritance - Delayed skeletal maturation - Herniation of intervertebral nuclei - Intervertebral space narrowing - Microdontia - Narrow vertebral interpedicular distance - Oligodontia - Platyspondyly - Short stature - 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 are the symptoms of Sabinas brittle hair syndrome ?
Answer: What are the signs and symptoms of Sabinas brittle hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sabinas brittle hair 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) Nail dystrophy 5% Autosomal recessive inheritance - Brittle hair - Dry hair - Hypotrichosis - Intellectual disability - 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 are the symptoms of Acrocephalopolydactylous dysplasia ?
Answer: What are the signs and symptoms of Acrocephalopolydactylous dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrocephalopolydactylous dysplasia. 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) Omphalocele 30% Pancreatic fibrosis 30% Abnormality of the pinna - Ascites - Autosomal recessive inheritance - Craniosynostosis - Cystic renal dysplasia - Enlarged kidneys - Epicanthus - Extrapulmonary sequestrum - Hepatic fibrosis - Hepatomegaly - Hypertelorism - Hypoplasia of the small intestine - Hypoplastic colon - Low-set ears - Micromelia - Oxycephaly - Phenotypic variability - Polysplenia - Postaxial hand polydactyly - Pulmonary hypoplasia - Short neck - Short nose - Upslanted palpebral fissure - 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) X-linked creatine deficiency ?
Answer: X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. X-linked creatine deficiency is caused by changes (mutations) in the SLC6A8 gene and is inherited in an X-linked manner. Treatment with high doses of creatine monohydrate, L-arginine, and L-glycine has been used to treat some of the symptoms associated with X-linked creatine deficiency with variable success.