{"Name":"Corticosteroid-sensitive aseptic abscess syndrome","DiseaseID__c":"GARD:0010946","id":10946,"encodedName":"corticosteroid-sensitive-aseptic-abscess-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Corticosteroid-sensitive aseptic abscess syndrome","Xref_IDs__c":"720751000; C4303863; MEDGEN:929532; MONDO:0018900; ORPHA:54251","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018900","Disease_Description__c":"A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.","GARD_Name__c":"Corticosteroid-sensitive aseptic abscess syndrome","GARD_Synonym__c":"aseptic abscesses syndrome; aseptic systemic abscesses; corticosteroid sensitive aseptic abscess syndrome; disseminated aseptic abscesses","Curated_Disease_Description_Source__c":"MONDO:0018900","Curated_Disease_Description__c":"A rare autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:54251","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018900","ORPHANET_ID__c":"ORPHA:54251","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de absceso estéril","Spanish_Description_Source__c":"ORPHA:54251","Spanish_Description__c":"Es un trastorno autoinflamatorio poco frecuente caracterizado por ataques recurrentes de fiebre y abscesos estériles.","Spanish_Disease_Name__c":"síndrome de absceso estéril","Spanish_GARD_Synonym__c":"abscesos estériles diseminados; abscesos estériles sistémicos; síndrome de absceso aséptico","Category_Linearization__c":"ORPHA:98023","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 autoinflammatory disorder characterized by recurrent attacks of fever and sterile abscesses.","Curated_Disease_Description_Source__c":"MONDO:0018900","GARD_Synonym__c":"aseptic abscesses syndrome; aseptic systemic abscesses; corticosteroid sensitive aseptic abscess syndrome; disseminated aseptic abscesses","Name":"Corticosteroid-sensitive aseptic abscess syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:54251"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:54251"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720751000","Source__c":"C4303863; MONDO:0018900","Xref__c":"720751000"},{"URL__c":"https://www.orpha.net/en/disease/detail/54251","Source__c":"C4303863; MONDO:0018900; ORPHA:54251","Xref__c":"ORPHA:54251"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929532","Source__c":"C4303863","Xref__c":"MEDGEN:929532"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303863","Source__c":"C4303863","Xref__c":"C4303863"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018900","Source__c":"GARD:0010946","Xref__c":"MONDO:0018900"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A collection of pus, immune cells, and other material in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030049","HPO_Synonym__c":"Brain abscess","HPO_Name__c":"Brain abscess","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","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"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100763","HPO_Name__c":"Abnormality of the lymphatic system","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural lymph node abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002733","HPO_Synonym__c":"Abnormal lymph node histology; Abnormality of the lymph nodes","HPO_Name__c":"Abnormal lymph node morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Uncommon (<1-4%)","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:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011897","HPO_Synonym__c":"Increased blood neutrophil counts; Neutrophilia","HPO_Name__c":"Increased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000035","HPO_Synonym__c":"Abnormality of the testis; Anomaly of the testes","HPO_Name__c":"Abnormal testis morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:54251","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed area of pus or necrotic debris in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100523","HPO_Synonym__c":"Hepatic abscess; Liver abscess","HPO_Name__c":"Liver abscess","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Pediatrics"]},"synonyms":["aseptic abscesses syndrome"," aseptic systemic abscesses"," corticosteroid sensitive aseptic abscess syndrome"," disseminated aseptic abscesses"]}