{"Name":"Kousseff syndrome","DiseaseID__c":"GARD:0004752","id":4752,"encodedName":"kousseff-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Kousseff syndrome","Xref_IDs__c":"726083008; C2931444; C537223; MEDGEN:444057; MONDO:0016522; ORPHA:2351","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0016522","Disease_Description__c":"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.","GARD_Name__c":"Kousseff syndrome","GARD_Synonym__c":"congenital sacral meningocele with conotruncal heart defect syndrome; sacral meningocele-conotruncal heart defects syndrome","Curated_Disease_Description_Source__c":"MONDO:0016522","Curated_Disease_Description__c":"A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:2351","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016522","ORPHANET_ID__c":"ORPHA:2351","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de kousseff","Spanish_Description_Source__c":"ORPHA:2351","Spanish_Description__c":"Es una malformación sindrómica poco frecuente del sistema nervioso central caracterizada por la asociación de defectos cardíacos conotruncales, mielomeningocele y dismorfia craneofacial similar a la observada en la monosomía 22q11.","Spanish_Disease_Name__c":"síndrome de kousseff","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.","Curated_Disease_Description_Source__c":"MONDO:0016522","GARD_Synonym__c":"congenital sacral meningocele with conotruncal heart defect syndrome; sacral meningocele-conotruncal heart defects syndrome","Name":"Kousseff syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2351"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2351"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2351"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726083008","Source__c":"C2931444; MONDO:0016522","Xref__c":"726083008"},{"URL__c":"https://www.orpha.net/en/disease/detail/2351","Source__c":"C2931444; MONDO:0016522; ORPHA:2351","Xref__c":"ORPHA:2351"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444057","Source__c":"C2931444","Xref__c":"MEDGEN:444057"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537223","Source__c":"MONDO:0016522","Xref__c":"C537223"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931444","Source__c":"C2931444","Xref__c":"C2931444"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016522","Source__c":"GARD:0004752","Xref__c":"MONDO:0016522"}],"tags":{"Disease Category":["Neurology","Congenital Abnormality"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["congenital sacral meningocele with conotruncal heart defect syndrome"," sacral meningocele-conotruncal heart defects syndrome"]}