{"Name":"Scedosporiosis","DiseaseID__c":"GARD:0021880","id":21880,"encodedName":"scedosporiosis","IsDeleted":false,"Disease_Name_Full__c":"Scedosporiosis","Xref_IDs__c":"1217227009; C000656924; C1142170; MEDGEN:1713603; MONDO:0018668; ORPHA:449280","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:449280","Disease_Description__c":"A rare mycosis caused by <i>Scedosporium</i> species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, chronic lung disease, but also in immunocompetent hosts and near drowning.","GARD_Name__c":"Scedosporiosis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:449280","Curated_Disease_Description__c":"A rare mycosis caused by <i>Scedosporium</i> species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, and chronic lung disease as well as in immunocompetent hosts and following instances of near drowning.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:449280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018668","ORPHANET_ID__c":"ORPHA:449280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Escedosporiosis","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"escedosporiosis","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":"A rare mycosis caused by <i>Scedosporium</i> species, characterized by disparate disease pictures including pneumonia, skin and soft tissue infection, mycetoma, and disseminated infection. Central nervous system infection has also been reported. Infections with this ubiquitous mold can occur in a range of contexts like solid organ transplantation, chemotherapy, and chronic lung disease as well as in immunocompetent hosts and following instances of near drowning.","Curated_Disease_Description_Source__c":"ORPHA:449280","Name":"Scedosporiosis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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:449280"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000656924","Source__c":"MONDO:0018668","Xref__c":"C000656924"},{"URL__c":"https://www.orpha.net/en/disease/detail/449280","Source__c":"C1142170; MONDO:0018668; ORPHA:449280","Xref__c":"ORPHA:449280"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1142170","Source__c":"C1142170","Xref__c":"C1142170"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1713603","Source__c":"C1142170","Xref__c":"MEDGEN:1713603"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217227009","Source__c":"C1142170","Xref__c":"1217227009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018668","Source__c":"GARD:0021880","Xref__c":"MONDO:0018668"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:449280","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:449280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032169","HPO_Synonym__c":"Unusual course of infection","HPO_Name__c":"Severe infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of metabolism or structure of the brain identified by imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410263","HPO_Synonym__c":"Abnormal brain imaging","HPO_Name__c":"Brain imaging abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100584","HPO_Name__c":"Endocarditis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012210","HPO_Synonym__c":"Abnormal kidney morphology; Abnormally shaped kidney; Kidney malformation; Kidney structure issue; Renal malformation; Structural anomalies of the renal tract; Structural kidney abnormalities; Structural renal anomalies","HPO_Name__c":"Abnormal renal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005059","HPO_Synonym__c":"Joint pain/Joint inflammation","HPO_Name__c":"Arthralgia/arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the sac-like covering around the heart (pericardium).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001701","HPO_Synonym__c":"Swelling or irritation of membrane around heart","HPO_Name__c":"Pericarditis","Feature_System__c":"Cardiovascular System; 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Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Frequent (30-79%)","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:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fungal infection characterized by invasion of host tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020101","HPO_Name__c":"Invasive fungal infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032159","HPO_Name__c":"Fungal meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of pus in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011919","HPO_Synonym__c":"Pyothorax","HPO_Name__c":"Pleural empyema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032262","HPO_Synonym__c":"Pulmonary TB","HPO_Name__c":"Pulmonary tuberculosis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032176","HPO_Synonym__c":"Apical cap; Apical pleural thickening","HPO_Name__c":"Apical pulmonary opacity","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031994","HPO_Name__c":"Bronchial breath sound","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","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:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032162","HPO_Name__c":"Unusual skin infection","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001977","HPO_Synonym__c":"Abnormal blood clot; Abnormal blood clotting","HPO_Name__c":"Abnormal thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032255","HPO_Name__c":"Opportunistic fungal infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:449280","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Disease Category":["Infectious Disease"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Rare mycosis"]},"synonyms":[""]}