sarnsrun/medquadmini huggingface dataset:
Question:
How to diagnose Anophthalmia plus syndrome ?

Answer:
How is anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.
Question:
What are the symptoms of Cornea guttata with anterior polar cataract ?

Answer:
What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. 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) Anterior polar cataract - Autosomal dominant inheritance - 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 Tremors, nystagmus and duodenal ulcers ?

Answer:
What are the signs and symptoms of Tremors, nystagmus and duodenal ulcers? The Human Phenotype Ontology provides the following list of signs and symptoms for Tremors, nystagmus and duodenal ulcers. 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 gastric mucosa 90% Nystagmus 90% Incoordination 50% Abnormality of the cerebellum - Autosomal dominant inheritance - Duodenal ulcer - Tremor - 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 Coenzyme Q10 deficiency ?

Answer:
What are the signs and symptoms of Coenzyme Q10 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Coenzyme Q10 deficiency. 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 - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Dysarthria - Elevated serum creatine phosphokinase - Encephalopathy - Glomerulosclerosis - Hepatic failure - Hypergonadotropic hypogonadism - Hypertrophic cardiomyopathy - Intellectual disability - Lactic acidosis - Motor delay - Nephrotic syndrome - Nystagmus - Onset - Pancytopenia - Phenotypic variability - Postural instability - Progressive muscle weakness - Ragged-red muscle fibers - Recurrent myoglobinuria - Rod-cone dystrophy - Scanning speech - Seizures - Sensorineural hearing impairment - Specific learning disability - 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 is (are) Hemangioma thrombocytopenia syndrome ?

Answer:
Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.
Question:
What are the symptoms of Hemangioma thrombocytopenia syndrome ?

Answer:
What are the signs and symptoms of Hemangioma thrombocytopenia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangioma thrombocytopenia 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 - Hemangioma - Hyperkalemia - Microangiopathic hemolytic anemia - Thrombocytopenia - Ventricular arrhythmia - 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 Mitochondrial trifunctional protein deficiency ?

Answer:
What are the signs and symptoms of Mitochondrial trifunctional protein deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial trifunctional protein deficiency. 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) Pigmentary retinopathy 2/16 Abnormality of the amniotic fluid - Autosomal recessive inheritance - Congestive heart failure - Dilated cardiomyopathy - Elevated hepatic transaminases - Failure to thrive - Generalized muscle weakness - Hydrops fetalis - Hyperammonemia - Hypoketotic hypoglycemia - Lactic acidosis - Muscular hypotonia - Myoglobinuria - Peripheral neuropathy - Prenatal maternal abnormality - Respiratory failure - Rhabdomyolysis - Small for gestational age - 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) 2,4-Dienoyl-CoA reductase deficiency ?

Answer:
2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.
Question:
What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ?

Answer:
What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. 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 - Hyperlysinemia - Neonatal hypotonia - Respiratory acidosis - 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 Cone dystrophy X-linked with tapetal-like sheen ?

Answer:
What are the signs and symptoms of Cone dystrophy X-linked with tapetal-like sheen? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy X-linked with tapetal-like sheen. 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 light-adapted electroretinogram - Abnormality of metabolism/homeostasis - Adult onset - Cone/cone-rod dystrophy - Retinal detachment - 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 is (are) Diabetes mellitus type 1 ?

Answer:
Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually develops by early adulthood, most often in adolescence. Symptoms of high blood sugar may include frequent urination, excessive thirst, fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. The exact cause of DM1 is unknown, but having certain "variants" of specific genes may increase a person's risk to develop the condition. A predisposition to develop DM1 runs in families, but no known inheritance pattern exists. Treatment includes blood sugar control and insulin replacement therapy. Improper control can cause recurrence of high blood sugar, or abnormally low blood sugar (hypoglycemia) during exercise or when eating is delayed. If not treated, the condition can be life-threatening. Over many years, chronic high blood sugar may be associated with a variety of complications that affect many parts of the body.
Question:
What are the symptoms of Diabetes mellitus type 1 ?

Answer:
What are the signs and symptoms of Diabetes mellitus type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Diabetes mellitus 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 the immune system - Diabetes mellitus - Heterogeneous - Hyperglycemia - Ketoacidosis - Polydipsia - Polyphagia - Polyuria - 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 Diabetes mellitus type 1 inherited ?

Answer:
Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. While the exact cause is not known, some genetic risk factors have been found. The risk of developing DM1 is increased by having certain versions (variants) of genes, which belong to a family of genes called the human leukocyte antigen (HLA) complex. HLA genes have many variations, and people have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing DM1, with particular combinations causing the highest risk. However, these variants are also found in the general population, and only about 5% of people with the gene variants develop DM1. Other genes, as well as a variety of other factors, are thought to influence the risk for DM1 also. Because there is no specific inheritance pattern associated with DM1, it is difficult to predict whether another family member will develop the condition. Generally, the risk is higher if a parent or sibling is affected. In some cases, genetic testing can be done to determine if someone who has a family history is at increased risk of developing the condition.  More information can be found on the America Diabetes Association's Web site, which has an article entitled Genetics of Diabetes. People with specific questions about genetic risks to themselves or family members should speak with their health care provider or a genetics professional.
Question:
What is (are) Dihydropteridine reductase deficiency ?

Answer:
Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by mutations in the QDPR gene. It is inherited in an autosomal recessive manner. Treatment should be started as soon as possible and includes BH4 supplementation usually combined with a diet without phenylalanine, folate supplementation, and specific medications to restore the levels of neurotransmitters in the brain.
Question:
What are the symptoms of Dihydropteridine reductase deficiency ?

Answer:
What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase deficiency. 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) Cognitive impairment 90% Microcephaly 90% Autosomal recessive inheritance - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperphenylalaninemia - Hypertonia - Infantile onset - Intellectual disability - Irritability - Muscular hypotonia - Myoclonus - Progressive neurologic deterioration - Seizures - Tremor - Variable expressivity - 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) Congenital disorders of glycosylation ?

Answer:
Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.
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.