{"Name":"Pseudounicornuate uterus","DiseaseID__c":"GARD:0020175","id":20175,"encodedName":"pseudounicornuate-uterus","IsDeleted":false,"Disease_Name_Full__c":"Pseudounicornuate uterus","Xref_IDs__c":"770591002; C4749300; MEDGEN:1657403; MONDO:0015833; ORPHA:180079","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015833","Disease_Description__c":"A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.","GARD_Name__c":"Pseudounicornuate uterus","GARD_Synonym__c":"incomplete unilateral aplasia of mullerian ducts; incomplete unilateral aplasia of the mullerian ducts; incomplete unilateral aplasia of the müllerian ducts; incomplete unilateral mullerian aplasia; incomplete unilateral müllerian aplasia; unicornuate uterus with rudimentary horn","Curated_Disease_Description_Source__c":"MONDO:0015833","Curated_Disease_Description__c":"A rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:180079","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015833","ORPHANET_ID__c":"ORPHA:180079","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Útero pseudo-unicorne","Spanish_Description_Source__c":"ORPHA:180079","Spanish_Description__c":"Es una malformación uterovaginal no sindrómica poco frecuente caracterizada por un útero de tamaño pequeño y en forma de media luna con un solo cuerno y una trompa de Falopio asociada a un segundo cuerno rudimentario (que puede ser sólido o contener una cavidad con endometrio funcional, tanto comunicante como no comunicante). Con frecuencia se asocian anomalías en el tracto urinario.","Spanish_Disease_Name__c":"útero pseudo-unicorne","Spanish_GARD_Synonym__c":"aplasia mulleriana unilateral incompleta; aplasia unilateral incompleta de los conductos de müller; útero unicorne con cuerno rudimentario","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 uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.","Curated_Disease_Description_Source__c":"MONDO:0015833","GARD_Synonym__c":"incomplete unilateral aplasia of mullerian ducts; incomplete unilateral aplasia of the mullerian ducts; incomplete unilateral aplasia of the müllerian ducts; incomplete unilateral mullerian aplasia; incomplete unilateral müllerian aplasia; unicornuate uterus with rudimentary horn","Name":"Pseudounicornuate uterus","estimateUsa":""}],"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":"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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749300","Source__c":"C4749300","Xref__c":"C4749300"},{"URL__c":"https://www.orpha.net/en/disease/detail/180079","Source__c":"C4749300; MONDO:0015833; ORPHA:180079","Xref__c":"ORPHA:180079"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1657403","Source__c":"C4749300","Xref__c":"MEDGEN:1657403"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770591002","Source__c":"C4749300","Xref__c":"770591002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015833","Source__c":"GARD:0020175","Xref__c":"MONDO:0015833"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Obstetrics / Gynecology","Urologist"]},"synonyms":["incomplete unilateral aplasia of mullerian ducts"," incomplete unilateral aplasia of the mullerian ducts"," incomplete unilateral aplasia of the müllerian ducts"," incomplete unilateral mullerian aplasia"," incomplete unilateral müllerian aplasia"," unicornuate uterus with rudimentary horn"]}