{"Name":"Complement component deficiency","DiseaseID__c":"GARD:0009526","id":9526,"encodedName":"complement-component-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Complement component deficiency","Xref_IDs__c":"363009005; C1285186; MEDGEN:226929; MONDO:0000015","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":1,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0000015","Disease_Description__c":"A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.","GARD_Name__c":"Complement component deficiency","GARD_Synonym__c":"classic complement early component deficiency; genetic deficiency of early component of the classical complement pathway","Curated_Disease_Description_Source__c":"MONDO:0000015","Curated_Disease_Description__c":"A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.","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 Grouping","MONDO_ID__c":"MONDO:0000015","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":"A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.","Curated_Disease_Description_Source__c":"MONDO:0000015","GARD_Synonym__c":"classic complement early component deficiency; genetic deficiency of early component of the classical complement pathway","Name":"Complement component deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=363009005","Source__c":"C1285186; MONDO:0000015","Xref__c":"363009005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226929","Source__c":"C1285186","Xref__c":"MEDGEN:226929"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1285186","Source__c":"C1285186","Xref__c":"C1285186"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000015","Source__c":"GARD:0009526","Xref__c":"MONDO:0000015"}],"tags":{},"synonyms":["classic complement early component deficiency"," genetic deficiency of early component of the classical complement pathway"]}