sarnsrun/medquad huggingface dataset:
Topic: Aicardi-Goutieres syndrome type 1
Question: What are the symptoms of Aicardi-Goutieres syndrome type 1 ?
Answer: What are the signs and symptoms of Aicardi-Goutieres syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome 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) Hepatomegaly 5% Splenomegaly 5% Abnormality of extrapyramidal motor function - Acrocyanosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebral atrophy - Chilblain lesions - Chronic CSF lymphocytosis - Deep white matter hypodensities - Dystonia - Elevated hepatic transaminases - Feeding difficulties in infancy - Fever - Hepatosplenomegaly - Increased CSF interferon alpha - Intellectual disability, profound - Leukoencephalopathy - Morphological abnormality of the pyramidal tract - Multiple gastric polyps - Muscular hypotonia of the trunk - Nystagmus - Petechiae - Poor head control - Progressive encephalopathy - Progressive microcephaly - Prolonged neonatal jaundice - Purpura - Seizures - Spasticity - Strabismus - Thrombocytopenia - 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.
Source: GARD
Topic: Amyopathic dermatomyositis
Question: What is (are) Amyopathic dermatomyositis ?
Answer: Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin.
Source: GARD
Topic: Amyopathic dermatomyositis
Question: What are the symptoms of Amyopathic dermatomyositis ?
Answer: What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. 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 eye 90% Autoimmunity 90% EMG abnormality 90% Muscle weakness 90% Myalgia 90% Periorbital edema 90% Abnormal hair quantity 50% Abnormality of the nail 50% Acrocyanosis 50% Arthralgia 50% Arthritis 50% Chondrocalcinosis 50% Dry skin 50% Muscular hypotonia 50% Poikiloderma 50% Pruritus 50% Pulmonary fibrosis 50% Recurrent respiratory infections 50% Respiratory insufficiency 50% Restrictive lung disease 50% Skin ulcer 50% Weight loss 50% Abnormality of eosinophils 7.5% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the skin 7.5% Arrhythmia 7.5% Cellulitis 7.5% Coronary artery disease 7.5% Cutaneous photosensitivity 7.5% Feeding difficulties in infancy 7.5% Gangrene 7.5% Gastrointestinal stroma tumor 7.5% Lymphoma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neurological speech impairment 7.5% Ovarian neoplasm 7.5% Pulmonary hypertension 7.5% Telangiectasia of the skin 7.5% Vasculitis 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.
Source: GARD
Topic: Maturity-onset diabetes of the young, type 7
Question: What are the symptoms of Maturity-onset diabetes of the young, type 7 ?
Answer: What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. 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 - Maturity-onset diabetes of the young - Type II diabetes mellitus - 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.
Source: GARD
Topic: Paget disease of bone
Question: What is (are) Paget disease of bone ?
Answer: Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.
Source: GARD
Topic: Paget disease of bone
Question: What are the symptoms of Paget disease of bone ?
Answer: What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. 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) Bilateral conductive hearing impairment 40% Abnormality of pelvic girdle bone morphology - Autosomal dominant inheritance - Bone pain - Brain stem compression - Cranial nerve paralysis - Elevated alkaline phosphatase - Fractures of the long bones - Heterogeneous - Hydroxyprolinuria - Increased susceptibility to fractures - Long-tract signs - Osteolysis - Paraparesis - Tetraparesis - Vertebral compression 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.
Source: GARD
Topic: Rowley-Rosenberg syndrome
Question: What are the symptoms of Rowley-Rosenberg syndrome ?
Answer: What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg 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 musculature - Aminoaciduria - Atelectasis - Autosomal recessive inheritance - Cor pulmonale - Growth delay - Pulmonary hypertension - Recurrent pneumonia - Reduced subcutaneous adipose tissue - Right ventricular hypertrophy - 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.
Source: GARD
Topic: McKusick Kaufman syndrome
Question: What are the symptoms of McKusick Kaufman syndrome ?
Answer: What are the signs and symptoms of McKusick Kaufman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McKusick Kaufman 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) Cryptorchidism 50% Displacement of the external urethral meatus 50% Postaxial hand polydactyly 50% Urogenital sinus anomaly 50% Abnormality of the metacarpal bones 7.5% Aganglionic megacolon 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Finger syndactyly 7.5% Hypoplastic left heart 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Postaxial foot polydactyly 7.5% Renal hypoplasia/aplasia 7.5% Short stature 7.5% Tarsal synostosis 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Anal atresia - Autosomal recessive inheritance - Congenital hip dislocation - Edema - Edema of the lower limbs - Hydrometrocolpos - Hydronephrosis - Hydroureter - Mesoaxial hand polydactyly - Polycystic kidney dysplasia - Pulmonary hypoplasia - Rectovaginal fistula - Syndactyly - Transverse vaginal septum - Vaginal atresia - Vesicovaginal fistula - 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.
Source: GARD
Topic: 3 methylglutaconic aciduria type V
Question: What are the symptoms of 3 methylglutaconic aciduria type V ?
Answer: What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria 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) 3-Methylglutaric aciduria - Autosomal recessive inheritance - Congestive heart failure - Cryptorchidism - Decreased testicular size - Dilated cardiomyopathy - Glutaric aciduria - Hypospadias - Intellectual disability - Intrauterine growth retardation - Microvesicular hepatic steatosis - Muscle weakness - Noncompaction cardiomyopathy - Nonprogressive cerebellar ataxia - Normochromic microcytic anemia - Optic atrophy - Prolonged QT interval - Sudden cardiac death - 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.
Source: GARD
Topic: Thai symphalangism syndrome
Question: What are the symptoms of Thai symphalangism syndrome ?
Answer: What are the signs and symptoms of Thai symphalangism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thai symphalangism 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) Brachydactyly syndrome - Broad philtrum - Distal symphalangism (hands) - Dolichocephaly - High palate - Hypodontia - Hypoplastic helices - Postaxial foot polydactyly - Postaxial hand polydactyly - Prominent nasal bridge - Proximal symphalangism (hands) - Ptosis - Short finger - Short stature - Short toe - Small earlobe - Sporadic - Wide nasal bridge - 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.
Source: GARD
Topic: Spastic diplegia infantile type
Question: What are the symptoms of Spastic diplegia infantile type ?
Answer: What are the signs and symptoms of Spastic diplegia infantile type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic diplegia infantile 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) Abnormality of the palate 90% Cognitive impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Muscular hypotonia 90% Autosomal recessive inheritance - Infantile onset - Intellectual disability - Spastic diplegia - 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.
Source: GARD
Topic: 47 XXX syndrome
Question: What is (are) 47 XXX syndrome ?
Answer: 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.
Source: GARD
Topic: 47 XXX syndrome
Question: What are the symptoms of 47 XXX syndrome ?
Answer: What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical findings can be present in some individuals and may include epicanthal folds, hypertelorism (widely spaced eyes), upslanting palpebral fissures, clinodactyly, overlapping digits (fingers or toes), pes planus (flat foot), and pectus excavatum. The condition is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Delayed development of motor skills (such as sitting and walking), weak muscle tone (hypotonia), and behavioral and emotional difficulties are also possible, but these characteristics vary widely among affected girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. Most females with the condition have normal sexual development and are able to conceive children. The Human Phenotype Ontology provides the following list of signs and symptoms for 47 XXX 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 chromosome segregation 90% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Epicanthus 50% Muscular hypotonia 50% Tall stature 50% Abnormality of the hip bone 7.5% Attention deficit hyperactivity disorder 7.5% Hypertelorism 7.5% Joint hypermobility 7.5% Multicystic kidney dysplasia 7.5% Pectus excavatum 7.5% Renal hypoplasia/aplasia 7.5% Secondary amenorrhea 7.5% Seizures 7.5% Tremor 7.5% Upslanted palpebral fissure 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.
Source: GARD