{"Name":"Diaphragmatic hernia-short bowel-asplenia syndrome","DiseaseID__c":"GARD:0022193","id":22193,"encodedName":"diaphragmatic-hernia-short-bowel-asplenia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Diaphragmatic hernia-short bowel-asplenia syndrome","Xref_IDs__c":"C5681454; MEDGEN:1811530; MONDO:0035105; ORPHA:527468","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035105","Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.","GARD_Name__c":"Diaphragmatic hernia-short bowel-asplenia syndrome","GARD_Synonym__c":"diaphragmatic hernia, short bowel, asplenia syndrome","Curated_Disease_Description_Source__c":"MONDO:0035105","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:527468","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035105","ORPHANET_ID__c":"ORPHA:527468","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hernia diafragmática-intestino corto-asplenia","Spanish_Description_Source__c":"ORPHA:527468","Spanish_Description__c":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de origen genético, y poco frecuente caracterizado por hernia diafragmática congénita, intestino corto y asplenia. Los rasgos faciales dismórficos incluyen frente amplia, hipertelorismo, narinas antevertidas y mandíbula pequeña. También se ha descrito atresia duodenal.","Spanish_Disease_Name__c":"síndrome de hernia diafragmática-intestino corto-asplenia","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 genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.","Curated_Disease_Description_Source__c":"MONDO:0035105","GARD_Synonym__c":"diaphragmatic hernia, short bowel, asplenia syndrome","Name":"Diaphragmatic hernia-short bowel-asplenia syndrome","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:527468"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681454","Source__c":"C5681454","Xref__c":"C5681454"},{"URL__c":"https://www.orpha.net/en/disease/detail/527468","Source__c":"C5681454; MONDO:0035105; ORPHA:527468","Xref__c":"ORPHA:527468"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1811530","Source__c":"C5681454","Xref__c":"MEDGEN:1811530"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217373008","Source__c":"C5681454","Xref__c":"1217373008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035105","Source__c":"GARD:0022193","Xref__c":"MONDO:0035105"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HLX","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Gastroenterology","Pediatrics"]},"synonyms":["diaphragmatic hernia, short bowel, asplenia syndrome"]}