sarnsrun/medquad huggingface dataset:
Topic: Hall Riggs mental retardation syndrome
Question: What are the symptoms of Hall Riggs mental retardation syndrome ?
Answer: What are the signs and symptoms of Hall Riggs mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hall Riggs mental retardation 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) Anteverted nares 90% Cognitive impairment 90% Epicanthus 90% Microcephaly 90% Neurological speech impairment 90% Short stature 90% Thick lower lip vermilion 90% Wide nasal bridge 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Brachydactyly syndrome 50% Coarse hair 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Hypertelorism 50% Limb undergrowth 50% Nausea and vomiting 50% Platyspondyly 50% Scoliosis 50% Seizures 50% Slow-growing hair 50% Wide mouth 50% Abnormality of dental enamel 7.5% Delayed eruption of teeth 7.5% Limitation of joint mobility 7.5% Absent speech - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive - Feeding difficulties in infancy - Hypoplasia of dental enamel - Hypoplasia of the primary teeth - Intellectual disability - Intrauterine growth retardation - Irregular vertebral endplates - Kyphosis - Metaphyseal dysplasia - Microdontia of primary teeth - Osteoporosis - Prominent nose - U-Shaped upper lip vermilion - 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.
Source: GARD
Topic: Osteopetrosis autosomal recessive 2
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.
Source: GARD
Topic: Osteopetrosis autosomal recessive 2
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.
Source: GARD
Topic: Oculopharyngeal muscular dystrophy
Question: What is (are) Oculopharyngeal muscular dystrophy ?
Answer: Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. There are two types of OPMD, which are distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene.
Source: GARD
Topic: Oculopharyngeal muscular dystrophy
Question: What are the symptoms of Oculopharyngeal muscular dystrophy ?
Answer: What are the signs and symptoms of Oculopharyngeal muscular dystrophy? There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70.  The most common symptoms of OPMD include: Muscle weakness (also known as myopathy) Droopy eyelids (also known as ptosis) Difficulty swallowing (also known as dysphagia) Double vision Tongue weakness Upper and/or lower body weakness Weakness of the muscles in the face Voice disorders (in about half of people with this condition) The Human Phenotype Ontology provides the following list of signs and symptoms for Oculopharyngeal muscular dystrophy. 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 pharynx 90% Myopathy 90% Ophthalmoparesis 90% Ptosis 90% Skeletal muscle atrophy 90% Mask-like facies 7.5% Adult onset - Autosomal dominant inheritance - Distal muscle weakness - Dysarthria - Dysphagia - Facial palsy - Gait disturbance - Limb muscle weakness - Neck muscle weakness - Progressive - Progressive ptosis - Proximal muscle weakness - 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.
Source: GARD
Topic: Oculopharyngeal muscular dystrophy
Question: What causes Oculopharyngeal muscular dystrophy ?
Answer: What causes oculopharyngeal muscular dystrophy? Oculopharyngeal muscular dystrophy (OPMD) is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making a protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein acts to protect the mRNA from being broken down and allows it to move within the cell. Mutations in the PABPN1 gene that cause OPMD result in a PABPN1 protein that forms clumps within muscle cells, and hence they cannot be broken down. These clumps are thought to impair the normal function of muscle cells and eventually cause cells to die. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with OPMD. It is not known why abnormal PABPN1 proteins seem to affect muscle cells in only certain parts of the body.
Source: GARD
Topic: Oculopharyngeal muscular dystrophy
Question: Is Oculopharyngeal muscular dystrophy inherited ?
Answer: How is oculopharyngeal muscular dystrophy inherited?
Source: GARD
Topic: Oculopharyngeal muscular dystrophy
Question: How to diagnose Oculopharyngeal muscular dystrophy ?
Answer: Is genetic testing available for oculopharyngeal muscular dystrophy? Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting testing click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals that are interested in learning more will need to work with a health care provider or a genetics professional.
Source: GARD
Topic: Oculopharyngeal muscular dystrophy
Question: What are the treatments for Oculopharyngeal muscular dystrophy ?
Answer: How might oculopharyngeal muscular dystrophy be treated? Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive.
Source: GARD
Topic: Alpha-thalassemia
Question: What is (are) Alpha-thalassemia ?
Answer: Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.
Source: GARD
Topic: Alpha-thalassemia
Question: What are the symptoms of Alpha-thalassemia ?
Answer: What are the signs and symptoms of Alpha-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia. 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 heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - 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.
Source: GARD
Topic: Alpha-thalassemia
Question: Is Alpha-thalassemia inherited ?
Answer: How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the protein that results from these genes. For each of the 2 genes, one allele is inherited from a person's father, and the other is inherited from a person's mother - so each person inherits 2 alleles from each parent. The different types of alpha-thalassemia result from the loss of some or all of these alleles. If both parents are missing at least one alpha-globin allele, each of their children are at risk of having Hb Bart syndrome or hydrops fetalis, hemoglobin H (HbH) disease, or alpha-thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected. In most cases: a person with 1 mutated allele is a carrier and has no signs or symptoms a person with 2 mutated alleles may have mild signs or symptoms of alpha-thalassemia (called alpha-thalassemia minor, or alpha-thalassemia trait) a person with 3 mutated alleles has moderate to severe symptoms (called HbH disease) When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth.
Source: GARD
Topic: Alpha-thalassemia
Question: What are the treatments for Alpha-thalassemia ?
Answer: How might alpha-thalassemia be treated? Treatment of alpha-thalassemia often includes blood transfusions to provide healthy blood cells that have normal hemoglobin.  Bone marrow transplant has helped to cure a small number of individuals with severe alpha-thalassemia.
Source: GARD
Topic: Pediatric Crohn's disease
Question: What is (are) Pediatric Crohn's disease ?
Answer: Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery.
Source: GARD
Topic: Meleda disease
Question: What are the symptoms of Meleda disease ?
Answer: What are the signs and symptoms of Meleda disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Meleda disease. 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) Lichenification 90% Palmoplantar keratoderma 90% Abnormality of the palate 50% Finger syndactyly 50% Hyperhidrosis 50% Hypertrichosis 50% Ichthyosis 50% Skin ulcer 50% Osteolysis 7.5% Abnormality of the mouth - Autosomal recessive inheritance - Brachydactyly syndrome - Congenital symmetrical palmoplantar keratosis - Erythema - Fragile nails - Infantile onset - 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.
Source: GARD
Topic: Juvenile idiopathic arthritis
Question: What are the symptoms of Juvenile idiopathic arthritis ?
Answer: What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. 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 temperature regulation 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Joint swelling 90% Skin rash 90% Mediastinal lymphadenopathy 50% Abdominal pain 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Hepatomegaly 7.5% Splenomegaly 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.
Source: GARD
Topic: Amish infantile epilepsy syndrome
Question: What are the symptoms of Amish infantile epilepsy syndrome ?
Answer: What are the signs and symptoms of Amish infantile epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish infantile epilepsy 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) Hearing impairment 5% Microcephaly 5% Absent speech - Autosomal recessive inheritance - Choreoathetosis - Cortical visual impairment - Developmental regression - Developmental stagnation at onset of seizures - Failure to thrive - Feeding difficulties in infancy - Generalized tonic-clonic seizures - Global brain atrophy - Hyporeflexia of upper limbs - Irritability - Lower limb hyperreflexia - Muscular hypotonia - Myoclonus - Optic atrophy - Status epilepticus - Visual loss - 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.
Source: GARD
Topic: Anaplastic astrocytoma
Question: What is (are) Anaplastic astrocytoma ?
Answer: Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of the tumor and may include headaches, drowsiness, vomiting, and changes in personality or mental status. Some affected people have seizures, vision problems, weakness of the limbs, and/or coordination problems. Anaplastic astroctyomas usually occur sporadically but can be associated with a few rare, genetic disorders. Treatment may include surgery, radiation, and/or chemotherapy.
Source: GARD
Topic: Anaplastic astrocytoma
Question: Is Anaplastic astrocytoma inherited ?
Answer: Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. Astrosytomas occur more frequently in people with one of these disorders. Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is "triggered" by an environmental factor.
Source: GARD