{"Name":"Neutropenia, lethal congenital, with eosinophilia","DiseaseID__c":"GARD:0006107","id":6107,"encodedName":"neutropenia-lethal-congenital-with-eosinophilia","IsDeleted":false,"Disease_Name_Full__c":"Neutropenia, lethal congenital, with eosinophilia","Xref_IDs__c":"C1850381; C564943; MEDGEN:338037; MONDO:0009754; OMIM:257100","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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:257100","Disease_Description__c":"{1:Andrews et al. (1960)} described 2 affected sibs. The parents were not known to be related. It is not entirely certain that this is an entity separate from that listed as agranulocytosis ({202700}). It is possible that some cases of neonatal neutropenia are due to fetomaternal immunization involving neutrophil-specific antigens ({2:Lalezari and Radel, 1974}).","GARD_Name__c":"Neutropenia, lethal congenital, with eosinophilia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Neutropenia, lethal congenital, with eosinophilia is a rare and serious disease that affects newborns. It is characterized by recurrent infections, absence of neutrophils, and a higher than normal number of eosinophils. Neutrophils and eosinophils are types of white blood cells that help the body fight infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:257100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009754","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":"Neutropenia, lethal congenital, with eosinophilia is a rare and serious disease that affects newborns. It is characterized by recurrent infections, absence of neutrophils, and a higher than normal number of eosinophils. Neutrophils and eosinophils are types of white blood cells that help the body fight infections.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Name":"Neutropenia, lethal congenital, with eosinophilia","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338037","Source__c":"C1850381","Xref__c":"MEDGEN:338037"},{"URL__c":"https://www.omim.org/entry/257100","Source__c":"C1850381; MONDO:0009754","Xref__c":"OMIM:257100"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850381","Source__c":"C1850381","Xref__c":"C1850381"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564943","Source__c":"MONDO:0009754","Xref__c":"C564943"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009754","Source__c":"GARD:0006107","Xref__c":"MONDO:0009754"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:257100","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:257100","Feature__r":{"HPO_Description__c":"Increased count of eosinophils in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001880","HPO_Synonym__c":"Eosinophilia; High blood eosinophil count; Increased eosinophil count","HPO_Name__c":"Increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":[""]}