{"Name":"Aspergillosis","DiseaseID__c":"GARD:0005856","id":5856,"encodedName":"aspergillosis","IsDeleted":false,"Disease_Name_Full__c":"Aspergillosis","Xref_IDs__c":"65553006; B44; C0004030; C2886; D001228; DOID:13564; MEDGEN:13939; MONDO:0005657; ORPHA:1163","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005657","Disease_Description__c":"Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.","GARD_Name__c":"Aspergillosis","GARD_Synonym__c":"infection due to aspergillus","Curated_Disease_Description_Source__c":"GARD:0005856","Curated_Disease_Description__c":"Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of Aspergillosis. One kind is allergic bronchopulmonary Aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of Aspergillosis is invasive Aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive Aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of Aspergillosis. This type of Aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:1163","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005657","ORPHANET_ID__c":"ORPHA:1163","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aspergilosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aspergilosis","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68416","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of Aspergillosis. One kind is allergic bronchopulmonary Aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of Aspergillosis is invasive Aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive Aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of Aspergillosis. This type of Aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas.","Curated_Disease_Description_Source__c":"GARD:0005856","GARD_Synonym__c":"infection due to aspergillus","Name":"Aspergillosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"},{"Account_Name__c":"MYCology Advocacy, Research, & Education (MYCARE)","Website__c":"https://fightfungus.org/"},{"Account_Name__c":"International Pediatric Fungal Network","Website__c":"http://www.ipfn.org/"},{"Account_Name__c":"Aspergillus & Aspergillosis","Website__c":"https://www.aspergillus.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious diseases"},{"Tag_Name__c":"Rare mycosis","Tag_Category__c":"Cause","curated_tag_name":"Fungal Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:1163"}],"External_Identifier_Disease__c":[{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/B44","Source__c":"MONDO:0005657","Xref__c":"B44"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=13939","Source__c":"C0004030","Xref__c":"MEDGEN:13939"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001228","Source__c":"C0004030; MONDO:0005657","Xref__c":"D001228"},{"URL__c":"https://www.orpha.net/en/disease/detail/1163","Source__c":"C0004030; MONDO:0005657; ORPHA:1163","Xref__c":"ORPHA:1163"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2886","Source__c":"C0004030; MONDO:0005657","Xref__c":"C2886"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0004030","Source__c":"C0004030","Xref__c":"C0004030"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13564","Source__c":"MONDO:0005657","Xref__c":"DOID:13564"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=65553006","Source__c":"C0004030; MONDO:0005657","Xref__c":"65553006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005657","Source__c":"GARD:0005856","Xref__c":"MONDO:0005657"},{"URL__c":"https://www.cdc.gov/aspergillosis/index.html"},{"URL__c":"https://medlineplus.gov/aspergillosis.html"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030878","HPO_Synonym__c":"Abnormal pulmonary function test","HPO_Name__c":"Abnormality on pulmonary function testing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002207","HPO_Name__c":"Diffuse reticular or finely nodular infiltrations","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020153","HPO_Name__c":"Positive blood 1,3 beta glucan test","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002693","HPO_Synonym__c":"Abnormality of cranial base; Abnormality of the skull base","HPO_Name__c":"Abnormal skull base morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020103","HPO_Name__c":"Invasive pulmonary aspergillosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004302","HPO_Synonym__c":"Functional motor problems","HPO_Name__c":"Functional motor deficit","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032016","HPO_Synonym__c":"Abnormal sputum morphology","HPO_Name__c":"Abnormal sputum","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011450","HPO_Synonym__c":"Central nervous system infection","HPO_Name__c":"Unusual CNS infection","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005607","HPO_Synonym__c":"Tracheobronchial anomalies","HPO_Name__c":"Abnormal tracheobronchial morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011531","HPO_Synonym__c":"Hyalitis; Vitreitis","HPO_Name__c":"Vitritis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006528","HPO_Synonym__c":"Chronic lung disease","HPO_Name__c":"Chronic lung disease","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200026","HPO_Synonym__c":"Eye pain","HPO_Name__c":"Ocular pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of the rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000772","HPO_Synonym__c":"Abnormality of the ribs; Rib abnormalities; Rib anomalies","HPO_Name__c":"Abnormal rib morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased count of eosinophils in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001880","HPO_Synonym__c":"Eosinophilia; High blood eosinophil count; Increased eosinophil count","HPO_Name__c":"Increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000246","HPO_Synonym__c":"Sinus inflammation","HPO_Name__c":"Sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002031","HPO_Synonym__c":"Abnormality of esophagus structure; Anomaly of the esophagus","HPO_Name__c":"Abnormal esophagus morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025179","HPO_Synonym__c":"GGO; Ground glass opacities","HPO_Name__c":"Ground-glass opacification","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032177","HPO_Name__c":"Parenchymal consolidation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Replacement of normal lung tissues by fibroblasts and collagen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002206","HPO_Synonym__c":"Pulmonary scarring","HPO_Name__c":"Pulmonary fibrosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to pass air through the nasal cavity often leading to mouth breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001742","HPO_Synonym__c":"Blockage of nose; Nasal blockage; Nasal obstruction; Obstruction of nose; Stuffy nose","HPO_Name__c":"Nasal congestion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006516","HPO_Name__c":"Hypersensitivity pneumonitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increase in periorbital soft tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000629","HPO_Synonym__c":"Periorbital puffiness; Periorbital swelling; Puffiness around eye; Puffy eyes; Swelling around the eyes","HPO_Name__c":"Periorbital fullness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006510","HPO_Synonym__c":"Chronic obstructive pulmonary disease; COPD","HPO_Name__c":"Chronic pulmonary obstruction","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002113","HPO_Synonym__c":"Lung infiltrates; Pulmonic infiltration","HPO_Name__c":"Pulmonary infiltrates","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased discharge of mucus from the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031417","HPO_Synonym__c":"Nasal Discharge; Runny Nose","HPO_Name__c":"Rhinorrhea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of size or shape of the long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011314","HPO_Synonym__c":"Abnormal shape of long bone; Abnormality of long bone morphology; Abnormality of the tubular bones","HPO_Name__c":"Abnormal long bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004377","HPO_Name__c":"Hematological neoplasm","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the pleura.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002102","HPO_Synonym__c":"Inflammation of tissues lining lungs and chest; Pleurisy","HPO_Name__c":"Pleuritis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002383","HPO_Synonym__c":"Brain inflammation","HPO_Name__c":"Infectious encephalitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100326","HPO_Name__c":"Immunologic hypersensitivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000491","HPO_Synonym__c":"Corneal inflammation","HPO_Name__c":"Keratitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the nasolacrimal sac.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000620","HPO_Synonym__c":"Dacrocystitis; Infection of the lacrimal sac","HPO_Name__c":"Dacryocystitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1163","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Rare mycosis"]},"synonyms":["infection due to aspergillus"]}