{"Name":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","DiseaseID__c":"GARD:0010354","id":10354,"encodedName":"omphalocele-diaphragmatic-hernia-cardiovascular-anomalies-radial-ray-defect-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","Xref_IDs__c":"CN294762; MEDGEN:976517; MONDO:0044649; OMIM:609545; ORPHA:496693","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:496693","Disease_Description__c":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by a large omphalocele containing liver and small intestine, diaphragmatic hernia, cardiovascular anomalies (e. g. aortic coarctation), variable limb malformations (including radioulnar synostosis, agenesis of the radius and/or thumb, generalized syndactyly, and numerical reduction of toes), and dysmorphic facial features. Additional reported manifestations are unilateral absence of umbilical artery, intestinal malrotation, hypoplastic ovaries, and unilateral renal agenesis, among others. The condition is mostly fatal in the neonatal period.","GARD_Name__c":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","GARD_Synonym__c":"gershoni-baruch syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome is a rare condition that affects babies before they are born. Babies with this condition have a large hole in their belly called an omphalocele that allows their liver and small intestine to stick out. They may also have a hole in their diaphragm, the muscle that helps them breathe (called a diaphragmatic hernia). This condition can also cause problems with the heart, such as a narrow aorta. Other symptoms include missing or fused fingers and unusual facial features. Some babies with this condition may have other problems, such as missing arteries or organs. This condition is often deadly for newborn babies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:496693","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044649","ORPHANET_ID__c":"ORPHA:496693","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de onfalocele-hernia diafragmática-anomalías cardiovasculares-defecto del rayo radial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de onfalocele-hernia diafragmática-anomalías cardiovasculares-defecto del rayo radial","Spanish_GARD_Synonym__c":"síndrome de gershoni-baruch","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":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome is a rare condition that affects babies before they are born. Babies with this condition have a large hole in their belly called an omphalocele that allows their liver and small intestine to stick out. They may also have a hole in their diaphragm, the muscle that helps them breathe (called a diaphragmatic hernia). This condition can also cause problems with the heart, such as a narrow aorta. Other symptoms include missing or fused fingers and unusual facial features. Some babies with this condition may have other problems, such as missing arteries or organs. This condition is often deadly for newborn babies.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"gershoni-baruch syndrome","Name":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect synd","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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:496693"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:496693"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/496693","Source__c":"CN294762; MONDO:0044649","Xref__c":"ORPHA:496693"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294762","Source__c":"CN294762","Xref__c":"CN294762"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=976517","Source__c":"CN294762","Xref__c":"MEDGEN:976517"},{"URL__c":"https://www.omim.org/entry/609545","Source__c":"ORPHA:496693","Xref__c":"OMIM:609545"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044649","Source__c":"GARD:0010354","Xref__c":"MONDO:0044649"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Neurology","Gastroenterology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["gershoni-baruch syndrome"]}