{"Name":"Familial omphalocele syndrome with facial dysmorphism","DiseaseID__c":"GARD:0021086","id":21086,"encodedName":"familial-omphalocele-syndrome-with-facial-dysmorphism","IsDeleted":false,"Disease_Name_Full__c":"Familial omphalocele syndrome with facial dysmorphism","Xref_IDs__c":"770900000; C4749579; MEDGEN:1655514; MONDO:0017235; ORPHA:280403","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017235","Disease_Description__c":"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.","GARD_Name__c":"Familial omphalocele syndrome with facial dysmorphism","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0017235","Curated_Disease_Description__c":"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.","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:280403","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017235","ORPHANET_ID__c":"ORPHA:280403","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de onfalocele familiar con dismorfia facial","Spanish_Description_Source__c":"ORPHA:280403","Spanish_Description__c":"Es un defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por onfalocele asociado a dismorfia facial, incluyendo cara plana, nariz corta y respingona, surco nasolabial largo y ancho y arco maxilar aplanado así como anomalías de las manos.","Spanish_Disease_Name__c":"síndrome de onfalocele familiar con dismorfia facial","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":"Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.","Curated_Disease_Description_Source__c":"MONDO:0017235","Name":"Familial omphalocele syndrome with facial dysmorphism","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"O Warrior","Website__c":"https://www.owarrior.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":"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":"Infancy","Provided_By__c":"ORPHA:280403"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:280403"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749579","Source__c":"C4749579","Xref__c":"C4749579"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1655514","Source__c":"C4749579","Xref__c":"MEDGEN:1655514"},{"URL__c":"https://www.orpha.net/en/disease/detail/280403","Source__c":"C4749579; MONDO:0017235; ORPHA:280403","Xref__c":"ORPHA:280403"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770900000","Source__c":"C4749579","Xref__c":"770900000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017235","Source__c":"GARD:0021086","Xref__c":"MONDO:0017235"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":[""]}