{"Name":"Recurrent Neisseria infections due to factor D deficiency","DiseaseID__c":"GARD:0017055","id":17055,"encodedName":"recurrent-neisseria-infections-due-to-factor-d-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Recurrent Neisseria infections due to factor D deficiency","Xref_IDs__c":"234607008; C0398764; C565027; MEDGEN:97989; MONDO:0013487; OMIM:613912; ORPHA:169467","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:169467","Disease_Description__c":"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to <i> Neisseria </i> bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.","GARD_Name__c":"Recurrent Neisseria infections due to factor D deficiency","GARD_Synonym__c":"factor d deficiency","Curated_Disease_Description_Source__c":"ORPHA:169467","Curated_Disease_Description__c":"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to  Neisseria  bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:169467","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013487","ORPHANET_ID__c":"ORPHA:169467","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infecciones recurrentes de neisseria por deficiencia de factor d","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"infecciones recurrentes de neisseria por deficiencia de factor d","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":"Recurrent Neisseria infections due to factor D deficiency is a rare, genetic, primary immunodeficiency disorder characterized by an increased susceptibility to  Neisseria  bacterial infections, resulting from complement factor D deficiency, typically manifesting as recurrent respiratory infections, recurrent meningitis and/or septicemia. Patients typically present fever, purpuric rash, arthralgia, myalgia and undetectable complement factor D plasma concentrations.","Curated_Disease_Description_Source__c":"ORPHA:169467","GARD_Synonym__c":"factor d deficiency","Name":"Recurrent Neisseria infections due to factor D deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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.ncbi.nlm.nih.gov/medgen/?term=97989","Source__c":"C0398764","Xref__c":"MEDGEN:97989"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565027","Source__c":"MONDO:0013487","Xref__c":"C565027"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398764","Source__c":"C0398764","Xref__c":"C0398764"},{"URL__c":"https://www.orpha.net/en/disease/detail/169467","Source__c":"C0398764; MONDO:0013487","Xref__c":"ORPHA:169467"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234607008","Source__c":"C0398764; MONDO:0013487","Xref__c":"234607008"},{"URL__c":"https://www.omim.org/entry/613912","Source__c":"C0398764; MONDO:0013487; ORPHA:169467","Xref__c":"OMIM:613912"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013487","Source__c":"GARD:0017055","Xref__c":"MONDO:0013487"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CFD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613912","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613912","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A partial reduction in level of the complement component Factor D in circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008338","HPO_Synonym__c":"Partial functional adipsin deficiency; Partial functional factor d deficiency","HPO_Name__c":"Partial functional complement factor D deficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["factor d deficiency"]}