{"Name":"Hyper-IgE syndrome","DiseaseID__c":"GARD:0010956","id":10956,"encodedName":"hyper-ige-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hyper-IgE syndrome","Xref_IDs__c":"C3144; C3887645; DOID:0080545; MEDGEN:854488; MONDO:0018037; OMIMPS:147060; ORPHA:331223","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018037","Disease_Description__c":"A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.","GARD_Name__c":"Hyper-IgE syndrome","GARD_Synonym__c":"hies; hies - hyperimmunoglobulin e syndrome; hyper-ige recurrent infection syndrome; hyperimmunoglobulin e syndrome","Curated_Disease_Description_Source__c":"GARD:0010956","Curated_Disease_Description__c":"Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:331223","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018037","ORPHANET_ID__c":"ORPHA:331223","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiper ige","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hiper ige","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98004","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":"Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections.","Curated_Disease_Description_Source__c":"GARD:0010956","GARD_Synonym__c":"hies; hies - hyperimmunoglobulin e syndrome; hyper-ige recurrent infection syndrome; hyperimmunoglobulin e syndrome","Name":"Hyper-IgE syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"},{"Account_Name__c":"United States Immunodeficiency Network","Website__c":"https://www.usidnet.org"},{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"Canadian Immunodeficiencies Patient Organization","Website__c":"http://www.cipo.ca/"},{"Account_Name__c":"Immune Deficiencies Foundation Australia","Website__c":"http://www.idfa.org.au/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080545","Source__c":"MONDO:0018037","Xref__c":"DOID:0080545"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3887645","Source__c":"C3887645","Xref__c":"C3887645"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854488","Source__c":"C3887645","Xref__c":"MEDGEN:854488"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3144","Source__c":"C3887645; MONDO:0018037","Xref__c":"C3144"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS147060","Source__c":"MONDO:0018037","Xref__c":"OMIMPS:147060"},{"URL__c":"https://www.orpha.net/en/disease/detail/331223","Source__c":"C3887645; MONDO:0018037; ORPHA:331223","Xref__c":"ORPHA:331223"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191009009","Source__c":"C3887645","Xref__c":"191009009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018037","Source__c":"GARD:0010956","Xref__c":"MONDO:0018037"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["hies"," hies - hyperimmunoglobulin e syndrome"," hyper-ige recurrent infection syndrome"," hyperimmunoglobulin e syndrome"]}