{"Name":"Syngnathia multiple anomalies","DiseaseID__c":"GARD:0005092","id":5092,"encodedName":"syngnathia-multiple-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Syngnathia multiple anomalies","Xref_IDs__c":"C5190737; MEDGEN:1678646; MONDO:0017980; ORPHA:3262","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:3262","Disease_Description__c":"Dobrow syndrome is a rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.","GARD_Name__c":"Syngnathia multiple anomalies","GARD_Synonym__c":"dobrow syndrome; syngnathia-multiple anomalies syndrome; syngnathia, multiple anomalies syndrome","Curated_Disease_Description_Source__c":"ORPHA:3262","Curated_Disease_Description__c":"A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.","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:3262","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017980","ORPHANET_ID__c":"ORPHA:3262","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de dobrow","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de dobrow","Spanish_GARD_Synonym__c":"síndrome de singnatia-anomalías múltiples","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 multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.","Curated_Disease_Description_Source__c":"ORPHA:3262","GARD_Synonym__c":"dobrow syndrome; syngnathia-multiple anomalies syndrome; syngnathia, multiple anomalies syndrome","Name":"Syngnathia multiple anomalies","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3262"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3262"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3262"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3262","Source__c":"C5190737; MONDO:0017980; ORPHA:3262","Xref__c":"ORPHA:3262"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190737","Source__c":"C5190737","Xref__c":"C5190737"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1678646","Source__c":"C5190737","Xref__c":"MEDGEN:1678646"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017980","Source__c":"GARD:0005092","Xref__c":"MONDO:0017980"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782940006","Source__c":"C5190737","Xref__c":"782940006"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["dobrow syndrome"," syngnathia-multiple anomalies syndrome"," syngnathia, multiple anomalies syndrome"]}