bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, 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) Autosomal recessive inheritance - Bruising susceptibility - Hemothorax - Joint hemorrhage - Persistent bleeding after trauma - 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.
Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms.
What are the signs and symptoms of Scleroderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Scleroderma. 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 stomach 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Cheilitis 90% Chest pain 90% Dry skin 90% Gangrene 90% Gingivitis 90% Lack of skin elasticity 90% Muscle weakness 90% Myalgia 90% Nausea and vomiting 90% Restrictive lung disease 90% Skin ulcer 90% Xerostomia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormal tendon morphology 50% Abnormality of the pericardium 50% Arrhythmia 50% Bowel incontinence 50% Chondrocalcinosis 50% Coronary artery disease 50% Cranial nerve paralysis 50% Decreased nerve conduction velocity 50% Feeding difficulties in infancy 50% Hyperkeratosis 50% Hypopigmented skin patches 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Nephropathy 50% Pulmonary fibrosis 50% Recurrent urinary tract infections 50% Telangiectasia of the skin 50% Urticaria 50% Weight loss 50% Behavioral abnormality 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Erectile abnormalities 7.5% Gastrointestinal hemorrhage 7.5% Gingival bleeding 7.5% Hematuria 7.5% Hypertrophic cardiomyopathy 7.5% Memory impairment 7.5% Narrow mouth 7.5% Neoplasm of the lung 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Pulmonary infiltrates 7.5% Renal insufficiency 7.5% Seizures 7.5% Skeletal muscle atrophy 7.5% Tracheoesophageal fistula 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.
Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition.
What are the signs and symptoms of Hypotrichosis simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis simplex. 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) Hypotrichosis 100% Abnormality of the eyelashes 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Congenital, generalized hypertrichosis 50% Woolly hair 50% Hyperkeratosis 7.5% Pruritus 7.5% Autosomal dominant inheritance - Autosomal 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.
What are the signs and symptoms of Angioma serpiginosum, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. 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) Hypermelanotic macule 90% Telangiectasia of the skin 90% Abnormality of the retinal vasculature 7.5% Verrucae 7.5% Autosomal dominant inheritance - Hyperkeratosis - Juvenile onset - Slow progression - Sporadic - 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 X-linked hypohidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypohidrotic ectodermal dysplasia. 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 hair quantity 90% Delayed eruption of teeth 90% Depressed nasal ridge 90% Hypohidrosis 90% Microdontia 90% Frontal bossing 50% Anterior hypopituitarism 7.5% Hypertension 7.5% Short distal phalanx of finger 7.5% Type I diabetes mellitus 7.5% Abnormality of oral mucosa - Absent eyebrow - Absent nipple - Anhidrosis - Aplasia/Hypoplastia of the eccrine sweat glands - Brittle hair - Concave nail - Conical tooth - Depressed nasal bridge - Dry skin - Dysphonia - Eczema - Everted upper lip vermilion - Fever - Heat intolerance - Heterogeneous - Hoarse voice - Hypodontia - Hypohidrotic ectodermal dysplasia - Hypoplasia of the maxilla - Hypoplastic nipples - Hypoplastic-absent sebaceous glands - Hypotrichosis - Periorbital hyperpigmentation - Periorbital wrinkles - Prominent supraorbital ridges - Respiratory difficulties - Short chin - Short nose - Soft skin - Sparse eyebrow - Sparse eyelashes - Taurodontia - Thick vermilion border - Thin skin - Underdeveloped nasal alae - 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.
Polycythemia vera (PV) is a condition characterized by an increased number of red blood cells in the bloodstream. Affected people may also have excess white blood cells and platelets. These extra cells cause the blood to be thicker than normal, increasing the risk for blood clots that can block blood flow in arteries and veins. People with PV have an increased risk of deep vein thrombosis which can cause a pulmonary embolism, heart attack, and stroke. Most cases of PV are not inherited and are acquired during a person's lifetime. In rare cases, the risk for PV runs in families and may be inherited in an autosomal dominant manner. The condition has been associated with mutations in the JAK2 and TET2 genes.
What are the signs and symptoms of Polycythemia vera? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycythemia vera. 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) Abdominal pain 90% Acute leukemia 90% Bruising susceptibility 90% Coronary artery disease 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Hepatomegaly 90% Migraine 90% Myelodysplasia 90% Splenomegaly 90% Tinnitus 90% Vertigo 90% Weight loss 90% Arthralgia 50% Respiratory insufficiency 50% Arterial thrombosis 7.5% Cerebral ischemia 7.5% Portal hypertension 7.5% Pruritus 7.5% Thrombophlebitis 7.5% Autosomal dominant inheritance - Budd-Chiari syndrome - Cerebral hemorrhage - Increased hematocrit - Increased hemoglobin - Increased megakaryocyte count - Increased red blood cell mass - Leukocytosis - Somatic mutation - Sporadic - Thrombocytopenia - Thrombocytosis - Thromboembolism - 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.
Is polycythemia vera inherited? Most cases of polycythemia vera (PCV) are not inherited from a parent and are acquired during a person's lifetime. The condition is associated with genetic changes (mutations) that are somatic, which means they occur in cells of the body but not in egg and sperm cells. In rare cases, the risk to develop PCV runs in families and sometimes appears to have an autosomal dominant pattern of inheritance. This means that only one altered copy of a gene in each cell is enough to give a person an increased risk for PCV. In other words, while an increased risk to develop PCV may be inherited, the condition itself is not inherited.
What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV).  No single treatment has been found to be effective for all affected individuals.  For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water.  Several other treatments are available for more severe itching or for itching the does not respond to initial treatments.  Interferon-alpha has been found to be effective for reducing itching in a majority of individual with PV who received this therapy; however, this medication can have significant side effects.  Selective serotonin reuptake inhibitors (SSRIs), typically used to treat depression, may reducing itching for some individuals with PV..  Phototherapy, antihistamines, and phlebotomy have also been attempted, with mixed results.  Additionally, if a genetic cause of polycythemia vera is know, medications targeted to the causative gene - such as JAK or mTor inhibitors - may be helpful in reducing itching.
What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. 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) Broad forehead 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Downturned corners of mouth 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow mouth 90% Overriding aorta 90% Prominent nasal bridge 90% Triangular face 90% Arteriovenous malformation 50% Microcephaly 50% Abnormality of the hip bone 7.5% Behavioral abnormality 7.5% Genu varum 7.5% Hypoplasia of the zygomatic bone 7.5% Intrauterine growth retardation 7.5% Mandibular prognathia 7.5% Muscular hypotonia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Intellectual disability - Right aortic arch with mirror image branching - 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 Reducing body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Reducing body myopathy. 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) Dilated cardiomyopathy 5% Areflexia - Elevated serum creatine phosphokinase - Flexion contracture - Frequent falls - Hyperlordosis - Hyporeflexia - Increased variability in muscle fiber diameter - Kyphosis - Proximal muscle weakness - Rapidly progressive - Respiratory insufficiency due to muscle weakness - Scoliosis - Short neck - Spinal rigidity - X-linked dominant inheritance - 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.
Pineal cysts are cysts of the pineal gland which is a small organ in the brain that produces melatonin (a sleep-regulating hormone). Pineal cysts are relatively common and may be found by chance in up to 10% of people undergoing CT or MRI brain imaging. The exact cause of pineal cysts is unknown. Most people with pineal cysts do not have any signs or symptoms. Rarely, a pineal cyst may cause headaches, hydrocephalus, eye movement abnormalities, and Parinaud syndrome. Treatment is usually only considered when a cyst is causing symptoms, in which case surgery, stereotactic aspiration or endoscopic treatment may be recommended.
What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. Although rare, people with symptomatic pineal cysts may have other symptoms such as difficulty moving (ataxia); mental and emotional disturbances; seizures; sleep (circadian rhythm) troubles; hormonal imbalances that may cause precocious puberty; or secondary parkinsonism.
How might pineal cysts be treated? The best treatment options for pineal cysts depend on many factors, including the size of the cyst and whether or not it is associated with symptoms. For example, people with pineal cysts that do not cause symptoms may not require any form of treatment. However, they may need to have regular check-ups with a physician and follow up imaging if they have a large cyst (greater than 10-14 mm) or develop symptoms that could be related to the cyst. Treatment is often recommended for those individuals with pineal cysts that cause hydrocephalus; neurological symptoms such as headache or disturbance of vision; or enlargement of the cyst over time. Treatment may include surgery to remove the cyst, sometimes followed by the placement of a ventriculoperitoneal shunt. Aspiration of the contents of the cyst using ultrasound guidance has been explored as an alternative approach to surgery, and more recently, endoscopic procedures have been used. Radiation therapy may be recommended for cysts that recur after treatment. What is the appropriate follow-up for a pineal cyst found incidentally on MRI? There is limited information about what happens to a pineal cyst over time.  Several studies have shown that most pineal cysts remain stable and do not increase in size or cause symptoms later in life.  One study found that larger cysts were more likely to decrease in size over time, and there is currently no evidence that larger cysts are more likely to cause symptoms.   Because guidelines for management depend on an understanding of the typical course of a condition, and currently there is limited information about pineal cysts, there is some debate about the most appropriate way to manage these cysts.  Some studies do not recommend repeated magnetic resonance imaging (MRI) of the cyst.  Other studies state that repeated imaging of a pineal cyst is not required.  Another approach is for individuals with a pineal cyst to have regular check-ups with their personal doctor; if at any point new symptoms arise that may be related to the pineal cyst, repeat imaging should be done.
Huntington disease (HD) is an inherited condition that causes progressive degeneration of neurons in the brain. Signs and symptoms usually develop between ages 35 to 44 years and may include uncontrolled movements, loss of intellectual abilities, and various emotional and psychiatric problems. People with HD usually live for about 15 to 20 years after the condition begins. It is caused by changes (mutations) in the HTT gene and is inherited in an autosomal dominant manner. Treatment is based on the symptoms present in each person and may include various medications. There is also a less common, early-onset form of HD which begins in childhood or adolescence. For more information on this form, please visit GARD's juvenile Huntington disease Web page.