bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Premature ovarian failure, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Premature ovarian failure, familial. 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 - Increased circulating gonadotropin level - Menstrual irregularities - Premature ovarian failure - X-linked 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.
What are the signs and symptoms of Paralysis agitans, juvenile, of Hunt? The Human Phenotype Ontology provides the following list of signs and symptoms for Paralysis agitans, juvenile, of Hunt. 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 - Bradykinesia - Dysarthria - Gait disturbance - Mask-like facies - Parkinsonism - Rigidity - Slow progression - Tremor - 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.
Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain.  Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery.
What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. 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) Hematuria 90% Urinary tract neoplasm 90% Abdominal pain 7.5% Hypercalcemia 7.5% Recurrent urinary tract infections 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.
Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.
How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. In February 2011, the US Food and Drug Administration approved Corifact, a product manufactured by CSL Behring of Marburg, Germany, to prevent bleeding in people with congenital Factor XIII deficiency. Corifact is made from the pooled plasma of healthy donors. It can be used for individuals with absent or decreased levels of FXIII.  People receiving Corifact may develop antibodies against Factor XIII that may make the product ineffective. It potentially can cause adverse events from abnormal clotting if doses higher than the labeled dose are given to patients. Cryoprecipitate should not be used to treat patients with factor XIII deficiency except in life- and limb-threatening emergencies when Factor XIII concentrate is not immediately available.
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening.
What are the signs and symptoms of Chondrodysplasia punctata 1, X-linked recessive? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia punctata 1, X-linked recessive. 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 vertebral column - Anosmia - Cataract - Depressed nasal bridge - Epiphyseal stippling - Hearing impairment - Hypogonadism - Ichthyosis - Microcephaly - Short distal phalanx of finger - Short nasal septum - Short nose - Short stature - 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.
C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.
What are the signs and symptoms of C syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for C 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) Anteverted nares 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Depressed nasal bridge 90% Epicanthus 90% Female pseudohermaphroditism 90% Gingival overgrowth 90% Hypoplasia of the ear cartilage 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Narrow forehead 90% Short neck 90% Short nose 90% Trigonocephaly 90% Upslanted palpebral fissure 90% Abnormality of immune system physiology 50% Cutis laxa 50% Joint dislocation 50% Limitation of joint mobility 50% Micromelia 50% Muscular hypotonia 50% Pectus excavatum 50% Sacral dimple 50% Seizures 50% Short stature 50% Single transverse palmar crease 50% Strabismus 50% Talipes 50% Thin vermilion border 50% Urogenital fistula 50% Abnormal localization of kidney 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Constipation 7.5% Hand polydactyly 7.5% Multicystic kidney dysplasia 7.5% Omphalocele 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Toe syndactyly 7.5% Accessory oral frenulum - Autosomal recessive inheritance - Clinodactyly - Clitoromegaly - Delayed skeletal maturation - Dislocated radial head - Failure to thrive - Fused sternal ossification centers - Hepatomegaly - High palate - Hip dislocation - Low-set ears - Patent ductus arteriosus - Postaxial foot polydactyly - Postaxial hand polydactyly - Posteriorly rotated ears - Radial deviation of finger - Renal cortical cysts - Scoliosis - Short metacarpal - Thick anterior alveolar ridges - Ulnar deviation of finger - Ventricular septal defect - Wide mouth - 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.
What are the signs and symptoms of Trichothiodystrophy nonphotosensitive? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichothiodystrophy nonphotosensitive. 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 face - Abnormality of the thorax - Asthma - Autosomal recessive inheritance - Brittle hair - Cataract - Congenital nonbullous ichthyosiform erythroderma - Cutaneous photosensitivity - Flexion contracture - Fragile nails - Hypogonadism - IgG deficiency - Intellectual disability - Intestinal obstruction - Lack of subcutaneous fatty tissue - Microcephaly - Recurrent infections - Short stature - Small for gestational age - 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.
What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 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.
Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.
What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. 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 pigmentation of the oral mucosa 90% Growth hormone excess 90% Gynecomastia 90% Hypercortisolism 90% Melanocytic nevus 90% Neoplasm of the adrenal gland 90% Neoplasm of the heart 90% Neoplasm of the skin 90% Neoplasm of the thyroid gland 90% Testicular neoplasm 90% Abnormality of adipose tissue 50% Abnormality of temperature regulation 50% Arthralgia 50% Behavioral abnormality 50% Broad foot 50% Cerebral ischemia 50% Coarse facial features 50% Congestive heart failure 50% Hypertension 50% Hypertrichosis 50% Joint swelling 50% Kyphosis 50% Large hands 50% Neoplasm of the breast 50% Osteoarthritis 50% Reduced bone mineral density 50% Round face 50% Skeletal muscle atrophy 50% Thin skin 50% Truncal obesity 50% Type II diabetes mellitus 50% Anemia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Mitral stenosis 7.5% Neoplasm of the nervous system 7.5% Ovarian neoplasm 7.5% Precocious puberty 7.5% Striae distensae 7.5% Sudden cardiac death 7.5% Tall stature 7.5% Weight loss 7.5% Abnormality of the eye - Autosomal dominant inheritance - Freckling - Hirsutism - Myxoid subcutaneous tumors - Nevus - Pheochromocytoma - Pituitary adenoma - Profuse pigmented skin lesions - Red hair - Schwannoma - Thyroid carcinoma - Thyroid follicular 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.
Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is long QT type 1. Long QT type 1 is caused by changes in the KCNQ1 gene. Romano-Ward syndrome is inherited in an autosomal dominant fashion.
What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Autosomal dominant inheritance - Heterogeneous - Prolonged QT interval - Sudden cardiac death - Syncope - Torsade de pointes - Ventricular fibrillation - 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.