{"Name":"Congenital omphalocele","DiseaseID__c":"GARD:0016540","id":16540,"encodedName":"congenital-omphalocele","IsDeleted":false,"Disease_Name_Full__c":"Congenital omphalocele","Xref_IDs__c":"18735004; C0795690; C98997; DOID:0060327; MEDGEN:162756; MONDO:0019015; ORPHA:660","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019015","Disease_Description__c":"A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.","GARD_Name__c":"Congenital omphalocele","GARD_Synonym__c":"amniocele; exomphalos; omphalocele; omphalocele (disease); omphalocoele","Curated_Disease_Description_Source__c":"MONDO:0019015","Curated_Disease_Description__c":"A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:660","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019015","ORPHANET_ID__c":"ORPHA:660","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Onfalocele","Spanish_Description_Source__c":"ORPHA:660","Spanish_Description__c":"Es una malformación de la pared abdominal no sindrómica y poco frecuente, caracterizada por una hernia de la pared abdominal, localizada en el cordón umbilical, en la que las vísceras protruyentes están protegidas por un saco.","Spanish_Disease_Name__c":"onfalocele","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, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.","Curated_Disease_Description_Source__c":"MONDO:0019015","GARD_Synonym__c":"amniocele; exomphalos; omphalocele; omphalocele (disease); omphalocoele","Name":"Congenital omphalocele","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"O Warrior","Website__c":"https://www.owarrior.org/"}],"GARD_Disease_Tag__c":[{"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:660"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060327","Source__c":"MONDO:0019015","Xref__c":"DOID:0060327"},{"URL__c":"https://www.orpha.net/en/disease/detail/660","Source__c":"C0795690; MONDO:0019015; ORPHA:660","Xref__c":"ORPHA:660"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18735004","Source__c":"C0795690; MONDO:0019015","Xref__c":"18735004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=162756","Source__c":"C0795690","Xref__c":"MEDGEN:162756"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0795690","Source__c":"C0795690","Xref__c":"C0795690"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98997","Source__c":"C0795690; MONDO:0019015","Xref__c":"C98997"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019015","Source__c":"GARD:0016540","Xref__c":"MONDO:0019015"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001539","Source__c":"C0795690","Xref__c":"HP:0001539"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000099245","Source__c":"C0795690","Xref__c":"D000099245"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011425","HPO_Name__c":"Fetal ultrasound soft marker","HPO_Feature_Type__c":"Imaging_Ultrasound_Fetal"}},{"Provided_By__c":"ORPHA:660","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:660","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001539","HPO_Synonym__c":"Exomphalos; Omphalocoele","HPO_Name__c":"Omphalocele","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Pediatrics"]},"synonyms":["amniocele"," exomphalos"," omphalocele"," omphalocele (disease)"," omphalocoele"]}