{"Name":"Spigelian hernia-cryptorchidism syndrome","DiseaseID__c":"GARD:0021371","id":21371,"encodedName":"spigelian-hernia-cryptorchidism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Spigelian hernia-cryptorchidism syndrome","Xref_IDs__c":"C4751074; MEDGEN:1662076; MONDO:0017798; ORPHA:314432","USA_Estimate__c":"1,000","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":"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":3,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:314432","Disease_Description__c":"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.","GARD_Name__c":"Spigelian hernia-cryptorchidism syndrome","GARD_Synonym__c":"spigelian hernia with cryptorchidism syndrome","Curated_Disease_Description_Source__c":"ORPHA:314432","Curated_Disease_Description__c":"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.","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:314432","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017798","ORPHANET_ID__c":"ORPHA:314432","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hernia spiegeliana-criptorquidia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hernia spiegeliana-criptorquidia","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":"Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates. The gubernaculum and/or inguinal canal may be absent.","Curated_Disease_Description_Source__c":"ORPHA:314432","GARD_Synonym__c":"spigelian hernia with cryptorchidism syndrome","Name":"Spigelian hernia-cryptorchidism syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:314432"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314432"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751074","Source__c":"C4751074","Xref__c":"C4751074"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1662076","Source__c":"C4751074","Xref__c":"MEDGEN:1662076"},{"URL__c":"https://www.orpha.net/en/disease/detail/314432","Source__c":"C4751074; MONDO:0017798; ORPHA:314432","Xref__c":"ORPHA:314432"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773623000","Source__c":"C4751074","Xref__c":"773623000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017798","Source__c":"GARD:0021371","Xref__c":"MONDO:0017798"}],"tags":{"Disease Category":["Congenital Abnormality"],"Specialist":["Pediatrics"]},"synonyms":["spigelian hernia with cryptorchidism syndrome"]}