Vanquish44/Healthcare_NLP huggingface dataset:
Question: How to diagnose Danon disease ?
Answer: Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories.

Topic: Danon disease
Source: GARD
Question: What are the treatments for Danon disease ?
Answer: How might the cardiomyopathy in Danon disease be treated? Because Danon disease can be associated with rapidly progressive cardiomyopathy and sudden death, careful monitoring of heart disease is required. Aggressive interventions may be recommended for people showing signs of progressive heart failure (e.g., early intervention with heart transplantation or implantable cardioverter-defibrillator). However, the severity of cardiomyopathy does vary, particularly in females. Management will depend on the presence and severity of the heart disease, and will be tailored to the needs of the patient.

Topic: Danon disease
Source: GARD
Question: What are the symptoms of Lissencephaly 1 ?
Answer: What are the signs and symptoms of Lissencephaly 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly 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) Cerebellar hypoplasia - Heterotopia - Hypoplasia of the brainstem - Intellectual disability - Lissencephaly - Muscular hypotonia of the trunk - Pachygyria - Postnatal microcephaly - Seizures - Spastic tetraparesis - Sporadic - Variable expressivity - Ventriculomegaly - 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.

Topic: Lissencephaly 1
Source: GARD
Question: What are the symptoms of Glaucoma sleep apnea ?
Answer: What are the signs and symptoms of Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. 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) Glaucoma 90% Respiratory insufficiency 90% Sleep apnea - 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.

Topic: Glaucoma sleep apnea
Source: GARD
Question: What are the symptoms of Corneal dystrophy crystalline of Schnyder ?
Answer: What are the signs and symptoms of Corneal dystrophy crystalline of Schnyder? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy crystalline of Schnyder. 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 - Corneal dystrophy - Crystalline corneal dystrophy - 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.

Topic: Corneal dystrophy crystalline of Schnyder
Source: GARD
Question: What are the symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ?
Answer: What are the signs and symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, low-birth-weight type with unresponsiveness to growth hormone. 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 - Hypoglycemia - Intellectual disability - Intrauterine growth retardation - 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.

Topic: Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
Source: GARD
Question: What are the symptoms of Spastic paraplegia 26 ?
Answer: What are the signs and symptoms of Spastic paraplegia 26? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 26. 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 5% Decreased serum testosterone level 5% Nystagmus 5% Urinary urgency 5% Autosomal recessive inheritance - Babinski sign - Cerebral cortical atrophy - Difficulty walking - Distal amyotrophy - Dysarthria - Dyskinesia - Dysmetria - Dystonia - Emotional lability - Frequent falls - Hyperreflexia - Intellectual disability, mild - Lower limb spasticity - Pes cavus - Progressive - Scoliosis - Slow progression - Spastic gait - Spastic paraplegia - Toe walking - 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.

Topic: Spastic paraplegia 26
Source: GARD
Question: What are the symptoms of Hyperinsulinemic hypoglycemia familial 2 ?
Answer: What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 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) Autosomal recessive inheritance - Hyperinsulinemic hypoglycemia - Hypoglycemia - Large for gestational age - Pancreatic islet-cell hyperplasia - 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.

Topic: Hyperinsulinemic hypoglycemia familial 2
Source: GARD
Question: What is (are) Chester porphyria ?
Answer: Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP).  Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic.

Topic: Chester porphyria
Source: GARD
Question: What are the symptoms of Intellectual deficit - short stature - hypertelorism ?
Answer: What are the signs and symptoms of Intellectual deficit - short stature - hypertelorism? The Human Phenotype Ontology provides the following list of signs and symptoms for Intellectual deficit - short stature - hypertelorism. 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% Broad forehead 90% Frontal bossing 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Long philtrum 50% 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.

Topic: Intellectual deficit - short stature - hypertelorism
Source: GARD
Question: What are the symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 ?
Answer: What are the signs and symptoms of Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis-parkinsonism/dementia complex 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) Abnormal lower motor neuron morphology - Amyotrophic lateral sclerosis - Bulbar palsy - Dementia - Muscle cramps - Muscle weakness - Parkinsonism - 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.

Topic: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
Source: GARD
Question: What are the symptoms of Osteogenesis imperfecta type V ?
Answer: What are the signs and symptoms of Osteogenesis imperfecta type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type V. 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) Blue sclerae 5% Dentinogenesis imperfecta 5% Joint hypermobility 5% Abnormality of metabolism/homeostasis - Abnormality of pelvic girdle bone morphology - Anterior radial head dislocation - Autosomal dominant inheritance - Biconcave vertebral bodies - Hyperplastic callus formation - Limited pronation/supination of forearm - Osteopenia - Platyspondyly - Recurrent fractures - Short stature - Triangular face - Vertebral wedging - Wormian bones - 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.

Topic: Osteogenesis imperfecta type V
Source: GARD
Question: What are the symptoms of Myopathy congenital ?
Answer: What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy congenital. 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 nervous system - Autosomal recessive inheritance - Myopathy - 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.

Topic: Myopathy congenital
Source: GARD
Question: What is (are) West syndrome ?
Answer: West syndrome is characterized by a specific type of seizure (infantile spasms) seen in infancy and childhood. This syndrome leads to developmental regression and causes a specific pattern, known as hypsarrhythmia (chaotic brain waves), on electroencephalography (EEG) testing. The infantile spasms usually begin in the first year of life, typically between 4-8 months. The seizures primarily consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be replaced by other types of seizures. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can lead to these spasms, making it important to identify the underlying cause. In some children, no cause can be found.

Topic: West syndrome
Source: GARD
Question: What are the symptoms of West syndrome ?
Answer: What are the signs and symptoms of West syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for West 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) Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Seizures 90% Choreoathetosis - Dysphagia - Dyspnea - Dystonia - Epileptic encephalopathy - Generalized myoclonic seizures - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Microcephaly - Muscular hypotonia of the trunk - Spasticity - Ventriculomegaly - 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.

Topic: West syndrome
Source: GARD
Question: What are the symptoms of Cardiocranial syndrome ?
Answer: What are the signs and symptoms of Cardiocranial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiocranial 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) Cognitive impairment 90% Craniosynostosis 90% Dolichocephaly 90% External ear malformation 90% Hypertelorism 90% Laryngomalacia 90% Low-set, posteriorly rotated ears 90% Short stature 90% Tracheomalacia 90% Trismus 90% Abnormal localization of kidney 50% Atria septal defect 50% Camptodactyly of finger 50% Cryptorchidism 50% Exaggerated cupid's bow 50% Hypoplasia of penis 50% Limitation of joint mobility 50% Polyhydramnios 50% Ptosis 50% Tetralogy of Fallot 50% Vesicoureteral reflux 50% Renal hypoplasia/aplasia 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Abnormality of the tracheobronchial system - Autosomal recessive inheritance - Growth delay - Intellectual disability - Micropenis - Microphallus - Sagittal craniosynostosis - 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.

Topic: Cardiocranial syndrome
Source: GARD