fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Diabetes mellitus type 1 ?
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. + GARD + Diabetes mellitus type 1
Is Diabetes mellitus type 1 inherited ?
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. + GARD + Diabetes mellitus type 1
What is (are) Dihydropteridine reductase deficiency ?
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. + GARD + Dihydropteridine reductase deficiency
What are the symptoms of Dihydropteridine reductase deficiency ?
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. + GARD + Dihydropteridine reductase deficiency
What is (are) Congenital disorders of glycosylation ?
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. + GARD + Congenital disorders of glycosylation
What are the symptoms of Congenital disorders of glycosylation ?
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. + GARD + Congenital disorders of glycosylation
What are the symptoms of Pulmonary venous return anomaly ?
What are the signs and symptoms of Pulmonary venous return anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary venous return anomaly. 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 cardiac septa 90% Anomalous pulmonary venous return 90% Respiratory insufficiency 7.5% Tapered distal phalanges of finger 5% Aplasia/Hypoplasia of the nails - Autosomal dominant inheritance - Pulmonary hypertension - Recurrent respiratory infections - Total anomalous pulmonary venous return - 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. + GARD + Pulmonary venous return anomaly
What are the symptoms of Spinocerebellar ataxia 20 ?
What are the signs and symptoms of Spinocerebellar ataxia 20? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 20. 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 - Adult onset - Autosomal dominant inheritance - Dysarthria - Dysphonia - Gait ataxia - High pitched voice - Hypermetric saccades - Limb ataxia - Nystagmus - Palatal myoclonus - Postural tremor - Slow progression - 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. + GARD + Spinocerebellar ataxia 20
What is (are) Aniridia ?
References National LIbrary of Medicine. Aniridia. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/aniridia. Accessed 3/30/2011. Hingorani M, Moore A. Aniridia. GeneReviews. August 12, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1360/. Accessed 3/30/2011. + GARD + Aniridia
What are the symptoms of Aniridia ?
What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. 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 macula 90% Aplasia/Hypoplasia of the iris 90% Nystagmus 90% Visual impairment 90% Blepharophimosis 50% Cataract 50% Corneal erosion 50% Ectopia lentis 50% Glaucoma 50% Keratoconjunctivitis sicca 50% Opacification of the corneal stroma 50% Optic atrophy 50% Photophobia 50% Ptosis 50% Strabismus 50% Abnormality of the genital system 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the sense of smell 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Decreased corneal thickness 7.5% Microcornea 7.5% Ocular albinism 7.5% Optic nerve coloboma 7.5% Sensorineural hearing impairment 7.5% Umbilical hernia 7.5% Aniridia - Autosomal dominant inheritance - Hypoplasia of the fovea - Optic nerve hypoplasia - 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. + GARD + Aniridia
What are the treatments for Aniridia ?
How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist.  Additional treatment is adapted to each individual depending on the associated complications. + GARD + Aniridia
What are the symptoms of Acanthosis nigricans muscle cramps acral enlargement ?
What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. 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) Acanthosis nigricans - Autosomal recessive inheritance - Insulin resistance - Muscle cramps - 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. + GARD + Acanthosis nigricans muscle cramps acral enlargement
What is (are) Childhood hypophosphatasia ?
Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes (mutations) in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the FDA. + GARD + Childhood hypophosphatasia
What are the symptoms of Childhood hypophosphatasia ?
What are the signs and symptoms of Childhood hypophosphatasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Childhood hypophosphatasia. 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 - Bowing of the legs - Carious teeth - Craniosynostosis - Dolichocephaly - Elevated plasma pyrophosphate - Elevated urine pyrophosphate - Frontal bossing - Low alkaline phosphatase - Myopathy - Phosphoethanolaminuria - Premature loss of primary teeth - Proptosis - Rachitic rosary - Seizures - Short stature - Skin dimple over apex of long bone angulation - Waddling gait - 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. + GARD + Childhood hypophosphatasia
What is (are) Duchenne muscular dystrophy ?
Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart.  There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life. + GARD + Duchenne muscular dystrophy
What are the symptoms of Duchenne muscular dystrophy ?
What are the signs and symptoms of Duchenne muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Duchenne 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) Arrhythmia - Calf muscle pseudohypertrophy - Childhood onset - Congestive heart failure - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Hyporeflexia - Hypoventilation - Intellectual disability, mild - Muscular dystrophy - Muscular hypotonia - Respiratory failure - Scoliosis - Waddling gait - X-linked recessive 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. + GARD + Duchenne muscular dystrophy