{"Name":"Lethal hydranencephaly-diaphragmatic hernia syndrome","DiseaseID__c":"GARD:0021978","id":21978,"encodedName":"lethal-hydranencephaly-diaphragmatic-hernia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lethal hydranencephaly-diaphragmatic hernia syndrome","Xref_IDs__c":"C5567527; MEDGEN:1798950; MONDO:0018810; ORPHA:480528","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018810","Disease_Description__c":"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.","GARD_Name__c":"Lethal hydranencephaly-diaphragmatic hernia syndrome","GARD_Synonym__c":"lethal hydranencephaly, diaphragmatic hernia syndrome","Curated_Disease_Description_Source__c":"MONDO:0018810","Curated_Disease_Description__c":"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:480528","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018810","ORPHANET_ID__c":"ORPHA:480528","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome letal de hidranencefalia-hernia diafragmática","Spanish_Description_Source__c":"ORPHA:480528","Spanish_Description__c":"Es un síndrome genético con múltiples anomalías congénitas, letal y poco frecuente, caracterizado por hidranencefalia y hernia diafragmática, así como macrocefalia, fontanela anterior muy abierta, abdomen escafoide e hipotonía. También se han asociado defectos cardíacos congénitos, polihidramnios e hipertensión pulmonar.","Spanish_Disease_Name__c":"síndrome letal de hidranencefalia-hernia diafragmática","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":"Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.","Curated_Disease_Description_Source__c":"MONDO:0018810","GARD_Synonym__c":"lethal hydranencephaly, diaphragmatic hernia syndrome","Name":"Lethal hydranencephaly-diaphragmatic hernia 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:480528"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798950","Source__c":"C5567527","Xref__c":"MEDGEN:1798950"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567527","Source__c":"C5567527","Xref__c":"C5567527"},{"URL__c":"https://www.orpha.net/en/disease/detail/480528","Source__c":"C5567527; MONDO:0018810; ORPHA:480528","Xref__c":"ORPHA:480528"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172705006","Source__c":"C5567527","Xref__c":"1172705006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018810","Source__c":"GARD:0021978","Xref__c":"MONDO:0018810"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLAT","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Neurology","Gastroenterology","Pediatrics"]},"synonyms":["lethal hydranencephaly, diaphragmatic hernia syndrome"]}