{"Name":"Neutropenia-monocytopenia-deafness syndrome","DiseaseID__c":"GARD:0003982","id":3982,"encodedName":"neutropenia-monocytopenia-deafness-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Neutropenia-monocytopenia-deafness syndrome","Xref_IDs__c":"C4518430; MEDGEN:1383523; MONDO:0017100; ORPHA:2690","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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":2,"Description_Source__c":"MONDO:0017100","Disease_Description__c":"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.","GARD_Name__c":"Neutropenia-monocytopenia-deafness syndrome","GARD_Synonym__c":"neutropenia-monocytopenia-hearing loss syndrome; neutropenia, monocytopenia, deafness syndrome","Curated_Disease_Description_Source__c":"ORPHA:2690","Curated_Disease_Description__c":"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2690","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017100","ORPHANET_ID__c":"ORPHA:2690","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de neutropenia-monocitopenia-sordera","Spanish_Description_Source__c":"ORPHA:2690","Spanish_Description__c":"Es un síndrome caracterizado por neutropenia con hipoplasia mieloide en médula ósea, monocitopenia, y sordera congénita. Se ha descrito en tres hermanos que sufren infecciones bacterianas recurrentes.","Spanish_Disease_Name__c":"síndrome de neutropenia-monocitopenia-sordera","Spanish_GARD_Synonym__c":"síndrome de neutropenia-monocitopenia-hipoacusia","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":"Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness.","Curated_Disease_Description_Source__c":"ORPHA:2690","GARD_Synonym__c":"neutropenia-monocytopenia-hearing loss syndrome; neutropenia, monocytopenia, deafness syndrome","Name":"Neutropenia-monocytopenia-deafness syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Neutropenia Network","Website__c":"https://neutropenianet.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2690"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2690"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2690","Source__c":"C4518430; MONDO:0017100; ORPHA:2690","Xref__c":"ORPHA:2690"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518430","Source__c":"C4518430","Xref__c":"C4518430"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1383523","Source__c":"C4518430","Xref__c":"MEDGEN:1383523"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725137007","Source__c":"C4518430","Xref__c":"725137007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017100","Source__c":"GARD:0003982","Xref__c":"MONDO:0017100"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2690","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A neutrophil abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001874","HPO_Synonym__c":"Abnormality of neutrophil; Abnormality of neutrophils; Abnormality of polymorphonuclear neutrophils","HPO_Name__c":"Abnormality of neutrophils","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2690","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2690","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of macrophages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004311","HPO_Synonym__c":"Abnormality of histiocytes; Abnormality of macrophages","HPO_Name__c":"Abnormal macrophage morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2690","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Immunology","Otolaryngology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["neutropenia-monocytopenia-hearing loss syndrome"," neutropenia, monocytopenia, deafness syndrome"]}