fenil210/Med-Lamma huggingface dataset:
What is (are) Hypertryptophanemia ?
Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. + GARD + Hypertryptophanemia
What are the symptoms of Hypertryptophanemia ?
What are the signs and symptoms of Hypertryptophanemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertryptophanemia. 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 dermatoglyphics 90% Neurological speech impairment 90% Abnormality of the elbow 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Abnormality of the knees 50% Abnormality of the ulna 50% Abnormality of the wrist 50% Adducted thumb 50% Aplasia/Hypoplasia of the radius 50% Asymmetry of the thorax 50% Cognitive impairment 50% EEG abnormality 50% Hyperhidrosis 50% Hypertelorism 50% Joint hypermobility 50% Myopia 50% Strabismus 50% Ulnar deviation of finger 50% Aggressive behavior - Camptodactyly of finger - Emotional lability - Generalized joint laxity - Hypersexuality - Limited elbow extension - Pes planus - Tryptophanuria - 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. + GARD + Hypertryptophanemia
What are the symptoms of Amelogenesis imperfecta nephrocalcinosis ?
What are the signs and symptoms of Amelogenesis imperfecta nephrocalcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta nephrocalcinosis. 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 calcium-phosphate metabolism 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Delayed eruption of teeth 90% Nephropathy 90% Amelogenesis imperfecta - Autosomal recessive inheritance - Dagger-shaped pulp calcifications - Delayed eruption of permanent teeth - Enuresis - Gingival overgrowth - Impaired renal concentrating ability - Nephrocalcinosis - Overgrowth - Polyuria - Renal insufficiency - 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 + Amelogenesis imperfecta nephrocalcinosis
What is (are) Charcot-Marie-Tooth disease type 2B ?
Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion. + GARD + Charcot-Marie-Tooth disease type 2B
What are the symptoms of Charcot-Marie-Tooth disease type 2B ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. 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) Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Dystrophic toenail - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Peripheral axonal atrophy - Pes cavus - Pes planus - Steppage 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 + Charcot-Marie-Tooth disease type 2B
What are the symptoms of Cataract microcornea syndrome ?
What are the signs and symptoms of Cataract microcornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract microcornea 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) Cataract 90% Microcornea 90% Myopia 50% Corneal dystrophy 7.5% Iris coloboma 7.5% Nystagmus 7.5% Opacification of the corneal stroma 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 + Cataract microcornea syndrome
What are the symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus ?
What are the signs and symptoms of Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus. 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 dental enamel 90% Aminoaciduria 90% Cognitive impairment 90% Incoordination 90% Intrauterine growth retardation 90% Microcephaly 90% Microdontia 90% Short stature 90% Type II diabetes mellitus 90% Autosomal recessive inheritance - Diabetes mellitus - Hypoplasia of dental enamel - Lactic acidosis - Severe short stature - 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 + Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
What are the symptoms of Preaxial polydactyly type 2 ?
What are the signs and symptoms of Preaxial polydactyly type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly type 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) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - 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 + Preaxial polydactyly type 2
What is (are) Lennox-Gastaut syndrome ?
Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found. Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures. + GARD + Lennox-Gastaut syndrome
What are the symptoms of Lennox-Gastaut syndrome ?
What are the signs and symptoms of Lennox-Gastaut syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lennox-Gastaut 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 periventricular white matter - Abnormality of the teeth - Autosomal recessive inheritance - Depressed nasal bridge - Dysphagia - Enlarged cisterna magna - Epileptic encephalopathy - Frontotemporal cerebral atrophy - Gastroesophageal reflux - Generalized myoclonic seizures - Gingival overgrowth - High forehead - Hypoplasia of the corpus callosum - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Macrocephaly - Posteriorly rotated ears - Progressive - Ptosis - Recurrent respiratory infections - Tented 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. + GARD + Lennox-Gastaut syndrome
What are the symptoms of Hypertelorism and tetralogy of Fallot ?
What are the signs and symptoms of Hypertelorism and tetralogy of Fallot? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertelorism and tetralogy of Fallot. 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 - Blepharophimosis - Depressed nasal bridge - Epicanthus - Hypertelorism - Hypospadias - Intellectual disability, mild - Long philtrum - Low-set ears - Patent ductus arteriosus - Patent foramen ovale - Posteriorly rotated ears - Spina bifida occulta - Talipes equinovarus - Tetralogy of Fallot - Tetralogy of Fallot with absent pulmonary valve - 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 + Hypertelorism and tetralogy of Fallot
What are the symptoms of Charcot-Marie-Tooth disease type 2D ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 2D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2D. 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 - Cold-induced hand cramps - Distal amyotrophy - Distal sensory impairment - First dorsal interossei muscle atrophy - First dorsal interossei muscle weakness - Hammertoe - Hyporeflexia - Onset - Pes cavus - Scoliosis - Slow progression - Thenar muscle atrophy - Thenar muscle weakness - Upper limb amyotrophy - Upper limb 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. + GARD + Charcot-Marie-Tooth disease type 2D
What is (are) Melioidosis ?
Melioidosis is an infectious disease caused by the bacteria Burkholderia pseudomallei that are commonly found in the soil and water. Melioidosis is a rare disease in the United States, but it is common in tropical or subtropical areas of the world, including Southeast Asia, Africa, and Australia. The signs and symptoms of the disease can vary greatly and may mimic those of tuberculosis or common forms of pneumonia. Signs and symptoms may include pain or swelling, fever, abscess, cough, high fever, headache, trouble breathing, and more. Although healthy people can also experience signs and symptoms of the disease, people with certain conditions like diabetes, liver disease, kidney disease, lung disease, thalassemia, cancer, or certain autoimmune diseases are more severely affected. Diagnosis is made by collecting blood, sputum, urine, or pus samples and growing the bacteria. Current treatment is divided into two stages: an intravenous (IV) antibiotic stage and oral antibiotic maintenance stage to prevent recurrence. + GARD + Melioidosis
What are the symptoms of Deafness, autosomal recessive 51 ?
What are the signs and symptoms of Deafness, autosomal recessive 51? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal recessive 51. 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 - Sensorineural hearing 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. + GARD + Deafness, autosomal recessive 51
What are the symptoms of Mental retardation, X-linked, nonspecific ?
What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. 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) Seizures 5% Autism - Dental crowding - Hyperactivity - Hypertelorism - Intellectual disability - Intellectual disability, moderate - Joint hypermobility - Mandibular prognathia - Open mouth - Short nose - Synophrys - Tented upper lip vermilion - Uplifted earlobe - Upslanted palpebral fissure - 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 + Mental retardation, X-linked, nonspecific