{"Name":"Situs inversus","DiseaseID__c":"GARD:0004883","id":4883,"encodedName":"situs-inversus","IsDeleted":false,"Disease_Name_Full__c":"Situs inversus","Xref_IDs__c":"24614000; C4551493; C87121; D012857; DOID:758; MEDGEN:1642262; MONDO:0010029; ORPHA:101063; Q89.3","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010029","Disease_Description__c":"A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).","GARD_Name__c":"Situs inversus","GARD_Synonym__c":"all organs on wrong side of body; complete situs inversus; complete situs inversus viscerum; complete transposition (morphologic abnormality); laterality sequence; situs inversus totalis; situs inversus totalis (disease); situs oppositus; situs transversus","Curated_Disease_Description_Source__c":"GARD:0004883","Curated_Disease_Description__c":"Situs inversus totalis is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of Situs inversus totalis are complex. Familial cases have been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101063","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010029","ORPHANET_ID__c":"ORPHA:101063","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Heterotaxia viscero-atrial","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"heterotaxia viscero-atrial","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":"Situs inversus totalis is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of Situs inversus totalis are complex. Familial cases have been reported.","Curated_Disease_Description_Source__c":"GARD:0004883","GARD_Synonym__c":"all organs on wrong side of body; complete situs inversus; complete situs inversus viscerum; complete transposition (morphologic abnormality); laterality sequence; situs inversus totalis; situs inversus totalis (disease); situs oppositus; situs transversus","Name":"Situs inversus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.org/"}],"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":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004883","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012857","Source__c":"MONDO:0010029","Xref__c":"D012857"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1642262","Source__c":"C4551493","Xref__c":"MEDGEN:1642262"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q89.3","Source__c":"MONDO:0010029","Xref__c":"Q89.3"},{"URL__c":"https://www.orpha.net/en/disease/detail/101063","Source__c":"C4551493; MONDO:0010029","Xref__c":"ORPHA:101063"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24614000","Source__c":"MONDO:0010029","Xref__c":"24614000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A758","Source__c":"MONDO:0010029","Xref__c":"DOID:758"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C87121","Source__c":"MONDO:0010029","Xref__c":"C87121"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551493","Source__c":"C4551493","Xref__c":"C4551493"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010029","Source__c":"GARD:0004883","Xref__c":"MONDO:0010029"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001696","Source__c":"C4551493","Xref__c":"HP:0001696"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNAH9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NODAL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PKD1L1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CFAP53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ANKS3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CIROP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CFAP52","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NME7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MMP21","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Gastroenterology","Congenital Heart Disease"]},"synonyms":["all organs on wrong side of body"," complete situs inversus"," complete situs inversus viscerum"," complete transposition (morphologic abnormality)"," laterality sequence"," situs inversus totalis"," situs inversus totalis (disease)"," situs oppositus"," situs transversus"]}