fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ?
What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara type. 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 blistering of the skin 90% Abnormality of the fingernails 90% Subcutaneous hemorrhage 90% Palmoplantar keratoderma 50% Skin ulcer 50% Abnormality of skin pigmentation 7.5% Abnormality of the oral cavity 7.5% Constipation 7.5% Feeding difficulties in infancy 7.5% Neoplasm of the skin 7.5% Atrophic scars 5% Autosomal dominant inheritance - Growth delay - Milia - Nail dysplasia - Nail dystrophy - Neonatal onset - Palmoplantar hyperkeratosis - 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 + Epidermolysis bullosa simplex, Dowling-Meara type
What are the symptoms of Spinal muscular atrophy type 1 with congenital bone fractures ?
What are the signs and symptoms of Spinal muscular atrophy type 1 with congenital bone fractures? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 1 with congenital bone fractures. 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) Acute infantile spinal muscular atrophy - Autosomal recessive inheritance - Multiple prenatal fractures - 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 + Spinal muscular atrophy type 1 with congenital bone fractures
What are the symptoms of Syngnathia multiple anomalies ?
What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple anomalies. 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 teeth 90% Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 90% Cognitive impairment 90% Facial palsy 90% Iris coloboma 90% Microcephaly 90% Narrow mouth 90% Nystagmus 90% Respiratory insufficiency 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Trismus 90% Vertebral segmentation defect 90% 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 + Syngnathia multiple anomalies
What is (are) Squamous cell carcinoma of the head and neck ?
Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments. + GARD + Squamous cell carcinoma of the head and neck
What are the symptoms of White sponge nevus of cannon ?
What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. 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 metabolism/homeostasis - Autosomal dominant inheritance - Oral leukoplakia - 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 + White sponge nevus of cannon
What are the symptoms of De Sanctis-Cacchione syndrome ?
What are the signs and symptoms of De Sanctis-Cacchione syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Sanctis-Cacchione 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) Areflexia - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Choreoathetosis - Conjunctivitis - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - Dermal atrophy - Ectropion - Entropion - Gonadal hypoplasia - Hyporeflexia - Intellectual disability - Keratitis - Mental deterioration - Microcephaly - Olivopontocerebellar atrophy - Photophobia - Poikiloderma - Sensorineural hearing impairment - Severe short stature - Spasticity - Telangiectasia - 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 + De Sanctis-Cacchione syndrome
What are the symptoms of Carpotarsal osteochondromatosis ?
What are the signs and symptoms of Carpotarsal osteochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Carpotarsal osteochondromatosis. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - 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 + Carpotarsal osteochondromatosis
What are the symptoms of Achromatopsia 3 ?
What are the signs and symptoms of Achromatopsia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Achromatopsia 3. 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) Achromatopsia - Autosomal recessive inheritance - Cataract - Dyschromatopsia - Horizontal pendular nystagmus - Monochromacy - Photophobia - Severe Myopia - Severe 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 + Achromatopsia 3
What is (are) Danon disease ?
Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms. + GARD + Danon disease
What causes Danon disease ?
What causes Danon disease? Danon disease is caused by mutation in the LAMP2 gene. LAMP2 stands for lysosomal-associated membrane protein 2. + GARD + Danon disease
Is Danon disease inherited ?
How is Danon disease inherited? Dannon disease is inherited in an X-linked fashion. Click here to visit the Centre for Genetics Education Web site to learn more about X linked inheritance. + GARD + Danon disease
How to diagnose Danon disease ?
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. + GARD + Danon disease
What are the treatments for Danon disease ?
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. + GARD + Danon disease
What are the symptoms of Lissencephaly 1 ?
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. + GARD + Lissencephaly 1
What are the symptoms of Glaucoma sleep apnea ?
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. + GARD + Glaucoma sleep apnea
What are the symptoms of Corneal dystrophy crystalline of Schnyder ?
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. + GARD + Corneal dystrophy crystalline of Schnyder
What are the symptoms of Dwarfism, low-birth-weight type with unresponsiveness to growth hormone ?
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. + GARD + Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
What are the symptoms of Spastic paraplegia 26 ?
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. + GARD + Spastic paraplegia 26