{"Name":"Familial hemophagocytic lymphohistiocytosis type 1","DiseaseID__c":"GARD:0006590","id":6590,"encodedName":"familial-hemophagocytic-lymphohistiocytosis-type-1","IsDeleted":false,"Disease_Name_Full__c":"Familial hemophagocytic lymphohistiocytosis type 1","Xref_IDs__c":"C4551514; C61276; DOID:0110921; MEDGEN:1642840; MONDO:0009974","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":0,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009974","Disease_Description__c":"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.","GARD_Name__c":"Familial hemophagocytic lymphohistiocytosis type 1","GARD_Synonym__c":"erythrophagocytic lymphohistiocytosis, familial; fhl1; hemophagocytic reticulosis, familial; hlh1; hplh1; reticulosis, familial histiocytic","Curated_Disease_Description_Source__c":"MONDO:0009974","Curated_Disease_Description__c":"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009974","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.","Curated_Disease_Description_Source__c":"MONDO:0009974","GARD_Synonym__c":"erythrophagocytic lymphohistiocytosis, familial; fhl1; hemophagocytic reticulosis, familial; hlh1; hplh1; reticulosis, familial histiocytic","Name":"Familial hemophagocytic lymphohistiocytosis type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110921","Source__c":"MONDO:0009974","Xref__c":"DOID:0110921"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1642840","Source__c":"C4551514","Xref__c":"MEDGEN:1642840"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61276","Source__c":"MONDO:0009974","Xref__c":"C61276"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551514","Source__c":"C4551514","Xref__c":"C4551514"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009974","Source__c":"GARD:0006590","Xref__c":"MONDO:0009974"}],"tags":{},"synonyms":["erythrophagocytic lymphohistiocytosis, familial"," fhl1"," hemophagocytic reticulosis, familial"," hlh1"," hplh1"," reticulosis, familial histiocytic"]}